Edna at the Palace! - Unique - The Rare Chromosome Disorder ...

RARE CHROMOSOME DISORDER SUPPORT GROUP
Spring 2009 No. 61
Edna
at the
Palace!
In this issue
■ Members’ Letters
■ GSK Impact Awards 2009 Winner
■ Appointment at the Palace
■ A Day in the Life of…
■ STOP PRESS: Jeans for Genes Guest Charity 2009

Welcome to the Unique Spring
2009 newsletter. Where does
the time go? It is so hard to
believe we are in 2009 and by
the time you read this let’s hope
that we are enjoying warmer
weather following the heavy
snow here at the beginning of
the year.
Well the day finally came in
December when I went with
two of my daughters to
Buckingham Palace to be
presented with the MBE by
Prince Charles, following my
award in the Queen’s Birthday
Honours list last June. You can
read about my special day later
in the newsletter. Thank you for the many congratulation cards,
letters and good wishes I received, I had such pleasure reading them
and they were very much appreciated.
Unique continues to expand as the number of professionals and
families who contact us increases daily, as our reputation of providing
high quality information and vital help continues to spread. It is a big
challenge for the staff to fulfil the requirements of the many
enquiries.
As you can imagine as Unique membership increases we need more
staff to deal with requests and give help and we need to increase our
income to meet these needs, which is a great challenge. We are so
very grateful to all of you who have supported us already. There are
many different ways to support us as you can see from our website.
You can help us in many ways, by donation, fundraising, Just Giving,
sponsorships, grants and so forth. However there is one other way
you can support Unique, which will cost you nothing extra. For those
of you who order goods online you can greatly help Unique by
ordering through EasyFundraising. If you order items online by
accessing the store’s website through EasyFundraising and then
selecting Unique as your chosen charity, a percentage of anything
you purchase is donated to the group. What could be easier? At this
moment when financial times are hard for everyone, it is a way of
continuing the support we desperately need without costing you
anything. Why not look it up now and also encourage your family,
friends and possibly your company to do it as well. Let’s see how
much we can raise through EasyFundraising this year. Do also look
at the fundraising pages in this magazine where we report the many
fundraising events and achievements by Unique members. Thank you
to you all. We are also interested in any new ideas you may have, so
do drop a line or email to Craig, or another member of the team,
if you can help in any way
Our website is regularly updated and I would encourage you to take
a look (www.rarechromo.org) so as not to miss out on the lastest
news and forthcoming events. You can also sign up very easily for
our bi-monthly e-news alert on the home page of the website. If you
haven’t signed up already, why not find out more immediately? Don’t
delay!
There is so much news, information and special letters in this edition,
so I will close now and encourage you to read on; it may take you
some time! Please do write to us, we look forward to receiving
letters and emails from you telling us about your children’s
achievements and family outings or holidays. Do let us know your
thoughts and ideas for inclusion in the next Summer newsletter.
Our best wishes to you all for 2009.
Edna Knight
Founder Trustee/Director
Front cover photo: Edna Knight with her MBE.
Dear Friends
I do hope you and your family are well
and that for those of you in the
Northern hemisphere, the bitterly cold
and snowy Winter did not prove to be
too great a problem. We were
particularly concerned for our families
in Australia over the last few weeks,
especially those of you in Victoria with
the horrendous bush fires. I hope that
you are all OK. Whenever we hear
about major incidents and events
around the world, we always check to
see if any of our families might be
affected. Indeed Unique has grown
enormously and now we have well over
6500 families in 76 countries
worldwide. Knowledge of our work and
our reputation is spreading rapidly around the globe and we anticipate we will
have had between 800 and 900 new families join us in the year to March 2009.
This is DOUBLE the number of families who joined in the previous year. This is
really great news, and we know the rate of new families joining will continue to
rise, but the increased workload does bring with it new challenges for us.
We are working harder than ever on funding applications and a whole host of
fundraising ideas and ventures but competition for funds is great, never more so
than in the current global economic climate. I would ask each and every one of
you, wherever you live, please to consider making a financial contribution to the
group. Providing our services costs Unique at least £35.00/US$70.00/€45.00 per
member family per year – multiply this up by 6500 and you can see how much
we have to raise just to stand still. Our total funding requirements will of course
rise as new families join and as we develop new services. Perhaps you have
been meaning to make a donation or do some fundraising for us for some time
and just haven’t got round to it. To encourage you to start, we’ve included a
voluntary donation slip with this magazine for you to complete. If you really
can’t help then please pass it on to someone else who might be able to help –
a relative, a friend, a work colleague, a neighbour… If you hear of any funding
opportunities, then do let us know. Please tell your employers about us and see
if they have a matched funding or charity of the year scheme. There are lots of
other ideas in the fundraising pages of this magazine, not least all the marathons,
fun runs and dragon boat races taking place this year. Unique is your group and
we need all the help we can get to sustain us as we grow.
Perhaps you would like to let people know about our good news too. We are
very pleased to have had a very successful few months in terms of awards. You
will have seen on the front cover, and can read further on about, Edna’s MBE.
Just recently we were thrilled to learn that we have been judged one of just 10
winners of the prestigious GSK Impact awards out of nearly 400 applicants. This
is a real achievement and a great honour. Also, hot off the press, we have just
learned that we are a Guest Charity for the Jeans for Genes 2009 appeal! I’ll be
writing more about both in our next issue. We have also secured Health on the
Net (HonCode) accreditation at the first attempt, so visitors to our website can
be assured of the quality of the health information they will find there. Our
Facebook page and Facebook cause have gone from strength to strength and
many new families have found us this way. We have now been awarded our
own YouTube channel where we and you can post videos to illustrate what it is
like to live with a rare chromosome disorder in the family. For now though,
thank you all for your support and encouragement and for spreading the word
about Unique. We do appreciate it!
Kindest regards
Beverly
Chief Executive Officer
PO Box 2189, Caterham, Surrey CR3 5GN, England
Tel/Fax: +44 (0)1883 330766 Email: info@rarechromo.org
www.rarechromo.org
Charity No. 1110661
Whilst we always do our best to include up to date and correct information in the newsletter, there
can be a gap of a week or two between finalising the contents and actually getting it into print. Even in
that short time, events can conspire against us and information may change but we are sure you will
understand. Unique, the management committee and the printers do not necessarily agree with the views
expressed in this newsletter nor do they recommend any particular methods of treatment. Any new
treatment must never be started, or existing treatment changed, without first consulting your doctor.
Copyright © Unique – Rare Chromosome Disorder Support Group 2009
www.rarechromo.org
Page 2

Deletion (1)(p36.3) with
Duplication (1)(q42.1qter)
Claire Walker: DOB 18/12/1998
Angie Hoffman, 2126 South Western,
Springfield, MO 65807-2177, USA
Email: hoffman_angie@sbcglobal.net
I am about 10
years late in writing
this, but now I
can let everyone
know of Claire’s
accomplishments
instead of 10 years
of unanswered
questions. After a
pretty rough start in
life, she is a happy,
healthy, alert and an independent young
girl.
Claire’s life started with being diagnosed
Trisomy 1 through an amniocentesis. At
birth, it was discovered that her esophagus
was joined to her lung. She was taken to
St Louis Children’s Hospital where she
spent four months and underwent four
surgeries to correct her internal birth
defects. She weighed 4 pounds and 10
ounces which made her quite small and
weak for surgeries. Her first surgery was
performed at two days old where they
detached her esophagus from her lung and
gave her an NG tube and a feeding tube.
Her esophagus was not long enough to join
to her stomach, so the doctors gave it some
time to grow longer. About a month later,
it was discovered that her esophagus was
reattaching to her lung, so the surgery was
performed to attach her esophagus to her
stomach. A fundoplication (for reflux and
to help in digestion) and aortopexy (to give
support to her trachea so that it would not
collapse while she was breathing) were her
next surgery procedures. Claire had healed
from her surgeries and was able to go home
four months after birth. She was able to
take a bottle by the time she came home
from the hospital. She had her feeding tube,
but was only tube fed at night.
She had routine therapies at home and at
daycare when she turned two. She was able
to have her feeding tube taken out when
she was two-and-a-half – she hated her
feeding tube. She would not lay on her
stomach – which kept her from crawling.
Her therapists all said that she would
eventually crawl, but Claire was pretty
stubborn and I did not think she would
give in to being on her stomach. I carried
her on my left hip because her feeding tube
would rub if I carried her on my right hip.
Once her feeding tube was removed, she
was more comfortable and learned to crawl
and spent more time on her stomach. She
did not walk independently until she was
about almost 3. She began walking with
AFOs and then moved on to using a walker.
She walks (and runs) unassisted now. Claire
did have issues with movement and
different textures. She always wanted her
feet firmly on the ground. In the grocery
cart, I had to set her in sideways so that her
feet were not dangling or she would seem
to be incredibly off balance and dizzy. She
would grab her head, grit her teeth and her
eyes would roll up into the back of her
head like she was getting ready to fly off the
face of the earth – very traumatic for her.
Same way with the baby swing or on the
playground swings. She has overcome that
unstable feeling. She does have some issues
with when she is walking if there is a
change of surface. Sometimes she is unsure
when the sidewalk turns to grass or if there
is a kerb, or the surface painted a different
color. She is just very cautious about her
footing and makes sure that she is solid on
the ground when walking. She does not
have many skinned knees because rarely
does she trip and fall. She wears glasses,
but mostly to correct her astigmatism and
not to correct her vision. Her therapists
had thought that maybe her vision had
something to do with her being unstable.
She now only wears her glasses at school
and not at home.
electrical therapy on his left hand and arm
to strengthen and retrain muscles from his
cerebral palsy. He also tried the Vitalstim
therapy because he has speech problems
from cerebral palsy.
Claire started fourth grade this year and
loves school. She has a difficult time
writing, but can get her name written
and loves to practice. She is smart – she
recognizes all of her letters and numbers
(can write numbers and letters). She is able
to recognize sight words and spell “c-a-t”
and “d-o-g” and other simple words. She
is slowly developing computer skills –
she loves to go to the pbskids or Disney
websites and maneuver through them. She
is developmentally delayed, but I think she
has accomplished so much from where she
started from and she is progressing daily.
She is independent in toileting – she was
potty trained by the start of kindergarten.
She is able to talk and communicate with
others – sometimes she talks constantly!
Her teacher has described her as the mother
hen of the classroom. She loves to help and
be involved in activities with other children
– she is very sociable and definitely likes to
help be in charge.
GSK Impact Awards 2009 Winner
We are thrilled to announce that we are one of 10 winners of the GSK Impact Awards for
2009. Run in conjunction with the King’s Fund, these prestigious awards recognize and reward
charities working in the field of health. As well as a cash prize, we will receive free high quality
training to help further develop our work and to measure its impact. Competition was fierce
this year with nearly 400 charities entered, so to be one of the 10 winners is a fantastic
achievement. The recognition will help with our goal of improving awareness of rare
chromosome disorders. The winners’ ceremony will take place in London on 7th May, by which
time a short video of our work should be available on the GSK Impact Awards website.
For more information about the GSK Impact Awards, please go to
www.kingsfund.org.uk/funding/gsk_impact_awards/index.html.
Claire still has some problems with her
esophagus and trachea. Her swallowing
evaluations show that liquids “pool” at the
base of her esophagus. She sometimes
aspirates and sounds “gurgly” or “rattles”
like she has pneumonia or bronchitis.
I have to remind her to cough and to
swallow. Her doctors will listen to her
lungs to make sure it is nothing more than
just pooling in her esophagus. We were
using Thick-it to thicken all her liquids so
that when she swallowed, everything would
go down instead of pooling, but she hated
it, so we just remind her to take small
drinks. She seems to manage without the
Thick-it. We did try Vitalstim therapy (an
electrotherapy) on her mouth and throat
to strengthen her muscles to help with
her speech and swallowing. We believe it
helped some, but the treatment was not
offered locally and we had to travel 45
minutes out of town three times a week for
four months. The treatment was definitely
worth trying, and if it is ever offered locally
we may try it again. We discovered this
therapy while her brother was doing
Claire sees many specialists yearly, and
always has a good report from all of them
– geneticist, urologist (she also has reflux
from her bladder to kidneys and she has
a malrotated kidney), neuphrologist,
endocrinologist (bone scan done at 9
years and 2 months showed that her
bone age was 8 years and 2 months),
ophthalmologist, orthopedist (shoe inserts
– she has no arch in her feet) and regular
pediatrician who has seen her since her
discharge from the hospital. She has
increased risk for upper respiratory
infections, but just manages to catch the
common cold. She has increased risk of
kidney and bladder infections, but does
not appear to have any bladder or kidney
damage from reflux. Her urologist suggests
she be on a preventative antibiotic. I was
not consistent in giving it to her, so I
decided not to give it to her at all since
she did not seem to have any problems.
I did talk to her pediatrician and her
neuphrologist who agreed with me. She
does not have infections and her blood
work and urine tests always show normal
www.rarechromo.org
Page 3

with no damage. With those test results,
I do not feel bad about not giving her
medicine every day. She does have other
birth defects or abnormalities – her two
toes next to her big toes (on each foot) are
joined/webbed. She has a hypoplastic left
thumb (which she is able to use and have
full function of her hand). She has two
urethras – one is just a blind pouch that
makes it pretty miserable to do any barium
testing for her bladder and kidneys. She
also has a “dimple” at the base of her spine
which made us wonder if she would ever
be able to walk. Claire also has an older
brother Corey (who turned 19 last year)
who has cerebral palsy in his left side
(congenital cytomegalovirus) and has
managed to overcome hurdles of his own.
With him, I have had some experience with
a special needs child, so other than Claire’s
medical problems, she fits right in. I give
both of them as much encouragement as
I can so that they can be independent and
be successful.
We are active in a local organization for
people with disabilities – Champion
Athletes of the Ozarks – which offers sports
activities and daily life skills. Both Corey
and Claire participate in all the sporting
activities offered – basketball, swimming,
gymnastics, soccer, track, bowling, golf,
a reading class as well as socialization
activities. Champion Athletes keeps us all
busy and focused on important things in
our lives. Corey and Claire are able to
socialize with others – disabled and
We’d love your letters for
the next edition of the
magazine please
Come on everyone – get out your pens
or computer keyboards and start writing!
We love to receive letters and photos
from any families within the group. If you
would like to include a piece in the next
newsletter, please send your article to
Beverly by 31st May 2009. If at all possible,
please send your article by email
(beverly@rarechromo.org), preferably as
a Word document attachment; this is by
far the easiest way for us and saves us a
lot of work typing up your letter. However,
if this is not possible, please send your
article by post (PO Box 2189, Caterham,
Surrey, CR3 5GN, England) or by fax
(+44 (0)1883 330766). Please make sure
you make it clear that the article is to be
published in the newsletter by writing
“For the Newsletter” across the top of the
article. Please send photos by email as a jpg
file attachment, rather than as a bmp or any
other file attachment. Otherwise, you can
send photos by post but please make sure
that you write your own name and address
and your child’s name on the back of the
photo and state whether you want the
photos returned to you.
Many thanks!
“normal” and love being a part of the
community. Claire and Corey also attend a
week-long summer camp for people with
disabilities. She has been to camp four years
now – she attended her first year when she
was only six years old. The camp provides a
one-on-one counselor if a camper needs to
have a one-on-one. Claire looks forward
every year to camp and knows that it is just
a part of her summer routine. She definitely
follows in her brother’s footsteps – he has
been at least ten years.
Despite all of her disabilities, she seems
to be growing and developing at her own
pace. I am confident that some day she will
be able to live independent successfully –
possibly with minimal assistance. I do enjoy
reading everyone’s stories and am glad I
have finally included our story. I will try
to not make the next update a ten-year
update.
Deletion (2)(q37.1)
Alex French: DOB 09/10/2000
David French, PO Box 1331,
Rockhampton, QLD 4700, Australia
Email: sandra16@bigpond.com.au
Hello, I’m David,
Alex’s Dad. We live
in Rockhampton, a
regional city in the
north of Australia.
We moved there for
a c-change in 1999,
with our eldest
Samuel. Next was
Alex (who this story
is about), and
then Lewis. I have been meaning to write
for a long while, but we have our own
business, and for the first time in years, we
shut over Christmas – so I have some time.
Our second son, Alexander, was born
weighing 3.4kg after a very short labour on
9th October 2000 at Rockhampton’s Mater
Hospital. The pregnancy was full term but
there was a large amount of meconium in
the amniotic fluid at the onset of labour.
When born he was floppy, blue and had to
be resuscitated. His initial and 5 minute
Apgar Score was 2. Alexander was placed
on oxygen, in a humidicrib with lots of
electrodes and a feeding tube. It was quite
a while before I realized the seriousness of
the situation – I can still remember asking
the obstetrician whether Alex had all his
“fingers and toes”, to which there was no
response. After 3 days Alex’s lungs weren’t
coping and he had to be placed on a
ventilator. He also picked up a blood
infection and had to be given some very
strong antibiotics, but after 2 days he
started breathing for himself and began
to improve and gain strength. Initially
Alexander was fed expressed breast milk
via a nasogastric tube. Once out of the
humidicrib we tried breast feeding but he
was too weak to attach (he was still very
www.rarechromo.org
‘floppy’ with low muscle tone), so we tried
bottle feeding with a Haberman bottle to
assist his weak sucking action. Initially he
could only suck for a minute or two before
he ran out of steam and the rest of the feed
would be given via the tube. The next two
weeks were spent building up his strength
so that he could go home.
We were able to take Alexander home after
about 3 weeks. He still had a feeding tube,
but after 2 weeks at home we were able to
discard the tube and by about 3 months of
age Alex was able to breastfeed, which he
did happily for the next 18 months. That
two weeks was pretty full on, so we got a
nanny in to help. This nanny was having a
break from one of the big cattle properties
round here, and consequently taught
Sandra how to cook corned beef perfectly –
simple really – if the recipe says two hours,
boil it for four!
When Alexander was about 6 weeks old a
DNA test was performed and it was found
that he had a chromosome deletion at
2q37.1. Alex tended to be an unresponsive
baby when exposed to stimulation. He
would gaze into space and it was difficult to
get his attention or to get a response from
him. He also did not reach out to grab
objects or laugh if something was dangled
in front of him. However, he did gradually
develop these skills but later than normal.
Due to his low muscle tone his physical
skills such as sitting up, crawling and
walking were all delayed (he did not walk
until he was almost 2 years old). Between
the ages of 2 and 4 years he would still
lose his balance quite easily and had some
terrible crashes. We eventually had him
wear a little padded football helmet which
looked funny but was very useful for
protecting his head.
His emerging language skills were assessed
at 6 months as mildly delayed and we
undertook a Hanen course to try and learn
some new language teaching skills.
Alex had surgery for ptosis (droopy eyelid)
and an umbilical hernia. He has twice had
to be resuscitated at home as a result of
numerous episodes of croup of unusual
severity. These attacks were terrifying, with
no more than 30 seconds between hearing
the first “seal cough” and being in deep
trouble. After the first episode he was
referred for a bronchoscopy and it was
found that he has unusually narrow and
floppy airways, and an additional bronchial
tube. We now keep adrenalin at Alexander’s
bedside, along with a nebulizer and a range
of preventative steroidal based medicines.
We have not had to use this for more than
two years now, but I’ll share a secret with
you – if you are ever in such a situation
– don’t think, “is it bad, will I call the
ambulance/use the adrenaline?”, just do it.
And if you’re using a nebulizer, make sure
that all the parts are in the case – our
Page 4

second terrible “mouth to mouth”
experience with Alex was our own fault –
one of the parts for the nebulizer looks like
a piece of Lego.
From the age of 6 months to 5 years Alex
has been attending the Neurodevelopment
Clinic at the Rockhampton Base Hospital,
where he received therapy from various
Speech Pathologists, Occupational
Therapists and Physiotherapists. When he
was 4 years he also attended music therapy
with a music teacher. Since the age of 5
Alex has attended private speech therapy
and a private Occupational Therapist.
We read books to all the kids nightly and
Alex has a private tutor one afternoon a
week, to assist with English and math
concepts.
Alex is now 8 years old. He attends the
local Grammar School, and will start year 3
this year with a full time carer. Measured
against the curriculum he is way behind,
but measured against our fears, he kicks
goals every day. The school/government
subsidises about two thirds of the carer’s
costs and we pay for the other third – we
are very grateful to the Grammar, because
of the flexibility and consideration they
have shown our family.
The efforts are showing results.
■ Speech has improved immensely and
Alex has grasped the idea that there is a
relationship between letters/symbols and
sounds, and quite often studies books
that he finds interesting. The other day
he was looking at a counting book,
counting out the examples as he went
– he took to this task by himself;
■ Alex knows the “name” and “sound” of
the alphabet and about 10 sight words
■ He can count to 10 reliably and to 20 if
he is focused.
■ Alex’ art skills are coming along well,
with a couple of surprising examples.
■ Alex actively takes part in singing
activities and class plays, even
participating in the signing choir at
the eisteddfod.
■ Alex can now tell us something about
what happened in his day, in a
conversation over dinner for example.
Alex competes in the school sports and
is cheered on by the whole school, even
though he is normally stone motherless last.
He is invited to birthday parties, and other
children attend his. This summer his
swimming has improved such that he is
diving in and skylarking with the other kids
and he can get himself out of the pool.
Alexander is well aware of the cause and
effect of teasing. Perhaps unfortunately I
played a Devo (I know I should burn my
1980’s collection) song called Mongaloid on
the car player – it’s actually a very positive
song, with a lesson to all us “normals” in it.
Of course the kids misheard the chorus,
and started calling each other “bongaloi”.
2009 WellChild Awards
Do you know a sick child whose bravery is
an inspiration? A boy or girl who deserves
national recognition for the courageous
way they go about their daily life despite
their serious illness? Or perhaps you want
to recognize the work of one of the
amazing carers and healthcare professionals
who go the extra mile for sick children.
The WellChild Awards celebrate the
courageous children and caring
professionals who are the inspiration
for so many people in the UK.
If you have been blown away by the
amazing bravery of a seriously ill child
or the dedication of their carers, then
nominate them and let the rest of the
world know.
WellChild’s star-studded ceremony in
London in September will be an evening
to remember for the brave youngsters
and those amazing people who support
them. Fill in the nomination form
online at www.wellchild.org.uk or call
0845 458 8171 for a nomination leaflet.
Now when Alex wants a raise out of his
brothers, he says Lewis is a bongaloi…
Which is quite ironic, because Alex is
saying it, and unknown to the kids, the
song says that the Mongaloid was more
normal than the normals. Alex’ brothers got
their own back the other week however,
when he was teasing them while standing
on the back of a boat. In his glee at
upsetting his brothers, he lost his footing
and fell into the sea! Luckily I was standing
right nearby, and Alex paddled to the side
of the boat when I hoisted him in. He was
obviously very surprised! Anyway, I threw
him in again, and then everybody wanted
me to throw them in too! Everyone now
talks about the day Alex fell off the boat!
Alex is really good at detail. His shaping
of letters in the alphabet is better than his
normal brothers, and his colouring in is
prizewinning material. On the other hand,
he can have trouble remembering what he
learnt, and things have to be repeated again
and again. We are also worried about Alex’
social skills – he sometimes seems to have
no concept as to the effect of his actions on
others. On that account he seems to have
some autistic attributes. He spends a lot of
time looking for bugs in the garden and
loves (sometimes too much) animals. You’d
be surprised at how tolerant most animals
are! The school has a garden that is
carefully tended each recess, and Alex likes
to go down there to look for bugs and help.
Alex also loves fishing, and crabbing (we
have lots of fish and mud crabs round
here), and he can pull them in himself.
I’ve got to teach him to cast next.
We also go Geocaching – an internet based
hide and seek. It’s a global game where you
go out and look for real hidden treasure,
and then record your finds on the internet.
www.rarechromo.org
You can look it up at Geocaching.com. I’m
sure it would be a good outlet for many
Unique families. Not too difficult, with
something for all participants.
One problem that has reared its head
recently is that of jealously amongst his
brothers. Alex has demanded a lot more
time and effort than the other two, and
they are annoyed about that. They are also
concerned what their friends think about
their “weird” brother. We have talked about
Alex’ condition with both of them, but kids
are kids. Interestingly, the complaints have
dropped off over Christmas, while I have
been home, and have put a big effort into
doing things with our two normal kids
– that is showing them that they are
important to us. We are investigating a
group called Siblings, which might help
with some of these issues.
Throughout the last 8 years we have had
two really meaningful strokes of luck:
The first was being introduced to Unique.
We were looking at a now defunct
Chromosome 2 chat site. A kind woman
from Holland directed us to Unique and
a similar organization in the USA. It was
like finding a whole new world – people
with similar experiences, well organized,
enthusiastic, and excellent research, makes
Unique unique in itself – especially when
no two family’s experiences are the same.
It’s hard to describe the relief that came
with finding Unique, even if you are on
the other side of the world. The second
was us noticing that Alex spoke better
when he had a cold. We often give the kids
Dimetapp or similar to ease stuffy noses and
I have read that pseudoephedrine is related
to speed, which is in turn related to Ritalin.
So we asked the Pediatrician (who thought
the hypothesis was just a little crazy), and
he agreed to give it a try. Alex’ speech has
improved noticeably, he can concentrate for
much longer, and in class he is a very good
boy (note that the medication does not
seem to work as well at home in that area!).
We take him off medication in the holidays
to feed him up.
Looking through the Unique newsletter,
we know that many families do have it
tougher than ourselves. It probably seems
strange that we would even bother being
members when our son goes to a normal
school. But strangely a little ability might
be worse than no ability at all. What we are
most concerned about is that Alexander’s
strengths offset his weaknesses just enough
for him to slip through the cracks. That is,
his issues are not addressed early enough;
he begins to struggle and is not able to keep
up. This is likely to make someone with
even reasonable intelligence “give up”,
become bitter and outcast. One only has to
walk the streets or read the newspaper to
see the consequences. Every year we revisit
whether we are doing the right thing – and
every year there is no clear answer. All I can
Page 5

say is so far so good. Best of everything to
you all.
Deletion (2) (q24.2q32.2)
Liam Royle: DOB 17/03/2004
Rebecca Tripp, 2/37 Truman Street,
South Kingsville, Melbourne,
Victoria 3015, Australia
Email: becktripp@hotmail.com
Liam was born
five weeks early on
St Patrick’s Day
2004 at Rosebud
Hospital. In my
state of euphoria,
holding my first
(and only) baby son
in my arms, I wasn’t
phased when the
obstetrician told us
Liam’s toes were webbed from the second
to the last toes. It wasn’t until later in the
afternoon when the paediatrician did her
routine ward round and noted some
‘unusual features’ that I began to feel the
sense of ‘falling’. We were transferred by
ambulance to the Special Care Nursery at
Frankston Hospital for tests. Sitting in the
chair next to his crib the sensation of falling
continued, not knowing when or where the
bottom was. The nursery became Liam’s
home for the next 17 days where he was
fed expressed breast milk through a nasal
gastric tube. (Liam was breast fed for nine
months). Liam took it all in his stride, a
very sleepy baby, he slept though most
if not all the tests, including the MRI. I
realised it was Neil and I that were being
tested, not Liam. It was a massive test of
our trust, patience, strength and of our
relationship, which have been tested many,
many times over in the last almost five
years. At ten days the genetic tests came
back showing that Liam had a deletion of
part of chromosome 2. We were told that it
was extremely rare and that Liam would
have ‘developmental delay and learning
problems’.
Liam’s development has been very slow.
He first rolled at eight months, began
commando crawling at 18 months and
proper crawling a few months after his
second birthday. Liam was 15 months old
when he began to grasp objects and began
to sit unaided at 22 months. Liam is able
to walk a few steps now holding an adult’s
hands or with the aid of a walking frame,
but crawling is his mode of getting around
and he is very confident and agile at it.
Liam is also a competent climber, climbing
onto the sofa and even onto my desk via
the chair at times. He is a happy and
fearless child, unthreatened by new
environments or new people. He has no
recognisable speech but has a large range of
vocalisations and reasonable comprehension
of about 15 words. Liam wears glasses for
short sightedness.
A Unique Experience
By Fiona McCutcheon and Judith Walker,
West Midlands Regional Genetics Laboratory
Fiona and Rachel are cytogeneticists who helped with the cytogenetics display at our conference last
Autumn. They wrote the following piece for the British Society of Human Genetics newsletter and we
thought you’d like to read it too. Thank you both!
On the 1st of November 2008, Unique, the Rare Chromosome Disorder Support Group, met
for their 12th family conference weekend. This weekend provided a fantastic opportunity for
children and families affected by rare chromosome disorders to meet and share stories. The
program for the weekend included lectures by guest speakers and workshops led by subject
experts. The aim of the weekend was to provide advice and support to families affected by
these disorders and for them to learn more about the genetics involved. Several members of
scientific and technical staff from the West Midlands Regional Genetics Laboratory were invited
to attend the conference to provide a genetic analysis demonstration, and of course, we
jumped at the chance! Within the conference suite a temporary genetics laboratory was set
up and throughout the day families were invited to join in and ask questions regarding genetic
analysis. Microscopes showing actual metaphase chromosomes were available for families to
view (analyse!) and image analysis stations were set up
giving examples of real cases involving both G band and
FISH analysis. A separate stand was dedicated to aCGH,
and as a relatively new technique it generated lots of
interest. But by far the most popular activity of the day
was the analysis of giant Velcro chromosomes! Adults
and children alike were challenged to assign the
chromosomes to the correct positions – and I think we
may have found the cytogeneticists of the future!
In addition to our chromosome analysis demonstration
taking place throughout the day, a proportion of time
was spent helping within the conference crèche. Here
we were given the rare and rewarding opportunity of
getting to know some of the children. Their smiling faces
and wonderful personalities will be with us throughout
the rest of our professional careers. The opportunity to
talk to these families whose lives have been dramatically
altered by the diagnosis of a chromosome disorder, and
to be there when many of them saw real
chromosomes for the first time, was an incredibly
humbling experience. One which I’m sure we will
readily volunteer for in the future!
We want to say a big thank you to Unique for giving
us the opportunity to be a part of the conference
and a special thank you to all the families who
showed such a keen interest in our demonstration, making it all worthwhile.
He is under the care of many specialists at
the Royal Children’s Hospital. I cannot
speak highly enough of the care and
expertise of these doctors.
The biggest challenge has been Liam’s
feeding. Liam had gastric reflux until about
the age of two. It was a huge relief when he
grew out of the daily vomiting but he now
has many food allergies and intolerances
and is still eating pureed or mashed food
and he drinks prescription formula from a
bottle. He does eat large quantities of food
though and continues to grow slowly. He
weighs just over 11kg and is about the
size of a two year old. Liam’s delayed
development has affected his ability to
swallow his saliva so drooling and dribbling
result in dozens of wet bibs every day
which we have grown used to.
Last year Liam commenced in the Early
Education Program at Port Phillip Specialist
School in Port Melbourne. Port Phillip SS
runs a world leading program where the
arts are incorporated into all areas of the
curriculum. So Liam not only has speech,
physiotherapy and occupational therapy,
but also music therapy, dance therapy and
swimming, all of which he loves. He will
also have access to a wide range of visual
arts therapies. It is a unique and extremely
successful approach to special education,
where all of the therapies are integrated to
form individualised programs for each
child. We were extremely fortunate to get a
place in this school as it is popular. Prior to
this our exposure to early intervention was
very patchy and although high in quality,
very poor in quantity, and with long waiting
lists. Liam will start in the prep class next
week which seems quite remarkable.
St Patrick’s Day 2009 will be Liam’s fifth
birthday and I think we will celebrate this
milestone with character and fun! Liam has
been an enormous delight in our lives. He
is a sunny happy child who loves music,
stories, walks and cuddles. People comment
on what a ‘character’ Liam is and yes he
certainly has his own distinct personality!
www.rarechromo.org
Page 6

Duplication (4)(q31.3qter)
René Roeglin: DOB 13/11/2007
Anika Roeglin
Email: anika.roeglin@googlemail.com
When I was 17
years old I got a
uterine infection
and the doctors had
to operate on it.
There they found
out that I have
Endometriosis and
they told me, that I
probably will never
have children. As I
just wanted to have children, it was horrible
to hear this. At this moment, I was still
falling in love with my current husband and
both of us knew that we wanted to grow
old together, so we decided to try for a
baby. It was very frustrating, because
nothing happened.
After 2 and a half years, we went to a
special doctor. He decided that I need a
hormonal stimulation where I have to
inject myself every day with hormones. At
the last attempt, I became pregnant. After
my wedding day, this was the happiest day
of my life when my doctor told me I was to
have a baby. After such a long time I was
finally pregnant.The first 3 months were
very easy, because mostly I feel good,
sometimes I felt a bit bad and I had to be
sick but it was OK, we would get a baby.
In the third month, I had a special
first-trimester ultrasound scan which wasn’t
positive. My gynaecologist recommended us
to have amniocentesis. It was a very painful
test and the time we had to wait for the
results shredded our nerves. Then we got
the important call where they said to us
that we have to come into the hospital.
My husband and I knew this couldn’t be
something good. This day was the worst
day of my life. The geneticists told us,
that my “son”, yes we will get a son, has a
trisomy 4. We didn’t know what this would
mean but we don’t feel good. Moreover they
said to us that even they didn’t know what
it would mean to us. But they told us also
that my baby must have a severe mental
disability because he hasn’t physical
disabilities. I started to cry and the next
days I didn’t stop crying. My husband was
very helpful but I couldn’t stop crying. I
didn’t know what to do at that moment.
As we started all the tests, my husband and
I decided that we will not go through with
the pregnancy if the baby had disabilities.
And now? I was in the 6th month at this
time, I felt my son move and I loved my
son more than anyone else in the world.
A few days later, we were on the train to
hospital to have a termination. And on the
way, I felt so bad, I couldn’t “kill” my baby.
Design a Christmas Card Competition 2009
Attention all budding artists!
This year we have decided to do things differently. Instead of ordering
three new designs for our Christmas cards, we have decided that two
of this year’s designs will be designed by our members. We would
love to include Christmas cards designed and created by two of our
members for 2009. The winning card designers will receive an ‘arty’
prize, plus a pack (of 10 cards) of their winning design to send to
their friends.
There will be two categories:
Category 1 is open to all children aged up to 14 years of age
Category 2 is open to all children and adults with special needs
Why not create a design that you think our members and their family and friends would love
to receive?
We need you to get your pens, pencils and paints out and start drawing!
■ All entries must be on white paper or card, A5 size.
■ Please only use pens, coloured pencils or paint. Because of the printing process, please DO
NOT use metallic ink, glitter or any collage type or stick on materials.
■ All entries in category 1 and 2 must be the child’s (or adult’s) own work and must include
on a separate piece of paper, the artist’s full name, age and parent’s full name and postal
address (if under 18) and telephone number/email plus the category in which the card is to
be entered.
■ Please DO NOT write any of these details on the front or back of the picture.
■ We recommend that entries are sent by recorded delivery as we cannot be held liable for
any entries lost in the post. If you would like us to return your entries, please include an
appropriate-sized stamped, addressed envelope.
Please send all entries to:
Unique Christmas Card Competition, PO Box 2189, Caterham, Surrey CR3 5GN, UK
Entries must be received by 31st May 2009. Entries will be shortlisted and will be judged by a
panel of judges, who will take age and ability into consideration, when making a final decision.
The winning designers will be notified by post in Summer 2009.
Good luck!
I decided to have our son and it was so. For
the rest of the pregnancy, I was so happy, it
was so great.
The birth was very painful, but at the first
moment I saw my son I knew we made the
right decision. My son is now 14 month
old. He developed normally like other
children. He can crawl and now he can
also walk. And every day he learns more
and more. He is really interested in his
environment and he understands us exactly.
He knows some different words and he can
link this words. All medical inspections
were usually good. We can say he is just
in time.
Sometimes I think about the first days,
what we would do now if we hadn’t got our
son? We don’t want imagine it. René is even
perfect.
Ring (5)(p15.3q35.3)de novo
Oscar Clitheroe: DOB 24/03/2007
Daniel and Donna Clitheroe,
9 Glebe Villas, Hove,
East Sussex BN3 5SL, England
Email: dmcordery@hotmail.com
Throughtout my
pregnancy, I was
told that I was
‘small for dates’; my
bump was usually a
centimeter under
the measurement I
should have been
each week. People
couldn’t believe I
was pregnant – at 6
months, I looked like I had a swollen belly,
but I definitely didn’t look 3 months away
from giving birth! I worried constantly
throughout my pregnancy – looking back
now, I’m sure my instinct was telling me
something wasn’t quite right. I even asked
at each appointment, “Why am I so small?”
All I was told was “This is your first baby,
you aren’t a big person yourself, so stop
worrying”. I would go home each time in
tears, because I knew there was more to it
than that.
Oscar was born 12 days late, normal
delivery, weighing 5.7lbs – all the doctors
and nurses were very happy with him –
and we were ecstatic – though deep down I
still had a feeling something wasn’t quite
right (mother’s instinct). Oscar was so very
petite and he had a tiny cry, like a kitten,
and he struggled to breastfeed, but I kept at
it and got there in the end (or so I thought).
We left the hospital 4 days later, I was
completely exhausted and tearful and as
soon as we got home, I had a terrible time
trying to feed Oscar. I think he could sense
my anxiety. For 8 weeks I persisted trying
to breastfeed him. He would either fall
asleep on the boob or only suck for
maximum of 3 minutes – I was worried
sick. Oscar surprisingly didn’t lose any
www.rarechromo.org
Page 7

weight in the first few weeks, he gained a
nice amount (God only knows how!) but
then as his weigh-ins continued, we noticed
that he would only ever put on 2–3oz per
week. By now he was on formula and he
still wasn’t putting on the weight he should
have been – but he was very alert, active
and doing everything he should have been
doing developmentally – so the midwives
didn’t panic and we tried not to either.
When Oscar was about 9 weeks old he had
a chest infection, he got so wheezy one
afternoon that I decided to jump in the
car and take him to Brighton’s Alexandra
Children’s Hospital, up the road (What a
God send). When I got there, I burst into
tears and told them about my worries (that
my instinct was telling me something wasn’t
right, that Oscar was so petite, had such a
small cry, that he wasn’t feeding well and
putting on the weight). They did a few tests
on Oscar and found that he had a slight
heart murmur and that they thought we
should do a genetic test on him – so this
is what we did. Three weeks later we were
told that Oscar had a very rare chromosome
disorder, called ‘Ring Chromosome 5’. We
were sent to Guy’s Hospital in London and
told that Oscar’s condition was De Novo,
it wasn’t passed on to him from us, his
parents – it just came out of the blue. There
Expectations – a new play
about rare chromosome
disorders
The Gothenburg English Speaking Theatre
(GEST) will be presenting the World
Premiere of ‘Expectations’ written by
Kristina Branden-Whitaker and directed
by Gary Whitaker, both Unique member
parents, at Teater Trixter in Gothenburg,
Sweden from 15 April–8th May 2009.
Expectations is an honest, moving and hard
hitting tale of two couples, one English, one
Swedish who discover that their babies
have a rare chromosome disorder. There
are choices to be made, fears and secrets
to share. As we follow their different
chosen paths the two couples are finally
brought together through Unique. The
play will also have its UK premiere at the
Edinburgh Festival in August. For more
information see www.gest.se.
Tina and Gary hope that the play will also
be educational and of possibly some help
in raising awareness. They plan to have
information available about Unique for the
audiences to read. There is also a scene
with a geneticist who gives the English
couple Unique info, The Yellow Book, etc
and they are planning a fundraising
performance.
Tina and Gary say they would love to see
Unique members in both Sweden and
Scotland. Please do support them in this
excellent venture and tell your friends and
family.
were only 3 other documented cases in the
world, and these were from the 1970’s.
Since being in touch with Unique we have
been in touch with 2 other families whose
children also have Ring 5 – which has
helped us tremendously. Oscar has a slight
deletion from the very top of one arm of
his number 5 pair of chromosomes, this
becomes sticky and clings to the other end
and forms a ring shape. As far as we know,
Oscar’s size is the only thing that results
from this happening – he is very petite, at
12 months old, he only weighed about
14lbs and was in size 3–6month clothing.
People couldn’t believe that he was only 12
months old, as he was trying to walk, and
crawled around on his hands and toes!
There is a condition called Cri-du-chat (cry
of the cat syndrome) that can affect children
who have a deletion of the end of the short
arm of chromosome 5. Oscar hasn’t got a
big enough deletion of the short arm of
chromosome 5 to have Cri-du-chat, but he
definitely had the cat/kitten like cry that
comes with this syndrome, which he has
now outgrown.
There’s no guarantee that Oscar won’t have
other problems, it’s a matter of ‘time will
tell’ but, so far, he is developing at the rate
that he should be, if not a little ahead of his
peers, so we have all our fingers and toes
crossed that he continues like this. He is
now 19 months and runs about like mad, is
extremely confident around other kids (who
are all much bigger then he is – due to his
size) and he is the happiest baby we have
ever met. We are so lucky to have such a
beautiful, characterful little boy who makes
everybody he meets fall in love with him.
He may be little, but he has left a big happy
mark on his family.
Duplication (7)(q35q36.3)
inserted into one copy of
chromosome 8
Eve Power: DOB 08/09/2007
Elaine Power, 103 Hornby Crescent,
Clock Face, St Helens,
Merseyside WA9 4SA, England
Email: mrselainepower@aol.com
When I found out
I was pregnant
with my daughter
Eve I was so happy.
We already had an
8 year old daughter
called Sophie and
we didn’t want
her to be an only
child. It was a
pretty uneventful
pregnancy. I suffered from quite bad
morning sickness but after the first 3
months I felt great. All my routine scans
were normal apart from the odd comment
of how her head size was showing I was
further on than I thought, but they weren’t
www.rarechromo.org
concerned. Each time her heart rate was
monitored they would say it was quite slow,
but again nothing to be concerned about.
The evening before she was born about
6pm my waters broke and as there was
meconium in it I went straight to the
hospital. I was placed on a monitor and
again her heart rate kept dropping.
11 hours later they decided to do an
emergency c-section. At 6:01am Eve was
born weighing 6lb 2¾oz and she was
perfect. Considering the traumatic birth she
had had she didn’t require any resuscitation
and scored high on the agar scores. After
three days in hospital we brought her
home. Eve was a very sickly baby and
would vomit a lot after each feed, but my
other daughter had been exactly the same
so I didn’t worry too much. When she was
5 days old the midwife mentioned she was
tongue tied, but again don’t worry it will
stretch as she grows. I always had a feeling
something wasn’t quite right with Eve but I
couldn’t quite put my finger on it. Eve was
a very good baby, she very rarely cried in
fact she hardly made any sounds at all.
At 4½ months she started to roll her eyes
up into her head , raise her arms up and
bow forward. She maybe did 2 or 3 of these
a day and we just thought it was something
she did – in fact we used to make a joke
of it. At 9 months she was referred to the
paediatrician due to her vomiting and I’d
also passed comment that she wasn’t sitting
up yet. The doctor thought she had an
allergy to milk and was placed on a lactose
free diet. I mentioned the eye rolling but he
didn’t seem concerned. Three days later I
kept asking my husband if he thought the
eye rolling and bending forward was a
problem, he suggested we filmed it and
showed it to her doctor. We didn’t have
to wait long. Eve had 6 episodes in a row
that evening and seeing them together in a
cluster looked like some sort of fit. By now
it was after midnight and I looked on the
internet for advice, I came across West
Syndrome and all it did was frighten us
even more. The next morning on Father’s
Day we took Eve to our local A&E
department armed with the information
we had on Wests. She continued to have
multiple seizures and was admitted for
observation. She had numerous scans all
which came back normal and they took
bloods, EEG’s which were all abnormal and
a full medical history. After a few weeks
Eve was diagnosed with West Syndrome,
although she didn’t have all the
characteristics of it. Eve has regressed a
little, losing skills such as clapping hands
and waving goodbye, and now her
development has plateaued. Eve was placed
on medication for her seizures although as
of today she still has 10–15 a day. She was
also diagnosed with Asthma after having
recurrent bouts of chestiness and has been
admitted with pneumonia.
Page 8

Eventually in October 2008 a whole 4
months after having the blood tests we
were told that Eve has a chromosome
abnormality and that was a probable cause
of her epilepsy. We were seen by the
geneticists in November 2008 and they
suspect Eve will have moderate to severe
disabilities although they cannot find
anyone as of yet with the same abnormality.
They commented on how Eve has low
set ears and a large head and prominent
forehead she also has exceptionally long
eyelashes. Developmentally Eve functions
around the age of 7 months (she is 16
months old now). She can sit unaided for a
short time but if she has a seizure she will
fall backwards, she is making no attempt to
pull herself up to sit or standing position
and would much rather lie on the floor. She
is starting to become more vocal although
this comes and goes. She learnt to roll at
11 months. She has regular physio and
portage. Her portage worker doesn’t think
she has any understanding of things so that
is our concern at the moment. It has been
a whirlwind year – in 7 months our whole
world has been turned upside down and I
fear this is only the beginning.
I would be so grateful if anyone reading this
letter can give us any information about
Eve’s abnormality because as of yet we don’t
really know anything. All we can do is be
thankful Eve is a beautiful and pleasant
little girl and we wouldn’t change her for
the world.
Deletion (7)(p13p15)
Anna Cunningham: DOB 18/05/2008
Tracey Mulcahy, 3 Pynes Valley,
Ballyvolane, Cork City,
County Cork, Ireland
Email: traceybridgette@yahoo.co.uk
Anna was born on
the 14th May 2008
after a 17 1 ⁄2 hour
labour and a
fairly horrendous
pregnancy, severe
hyper-emesis and
waters leaking from
27 weeks. After her
delivery it was quite
obvious that all was
not well with her, she has a lot of unusual
features, small low set ears, a cleft palate,
wrist contractures (which appear to be
correcting themselves with splints and
physio), rocker bottom/club feet. She
requires NG tube feeding although she has
started to eat from a spoon – it’s slow going
but she seems to enjoy it and knows what
her mouth is for.
Anna spent 6 weeks in special care, while
we got used to the tube feeds, but has gone
from strength to strength since she came
home. She has spent a few nights in
hospital since but for nothing too serious.
More recently she was diagnosed with a
First NHS constitution launched
The launch of the NHS Constitution for England took place in January. The Constitution, the
first of its kind in the world, was signed by Prime Minister Gordon Brown, Health Secretary
Alan Johnson and NHS Chief Executive David Nicholson. The Constitution will give power to
patients and the public by bringing their existing rights together in one place so they know
what they are legally entitled to – and how they can exercise their rights as well as
understanding their responsibilities. It also contains a range of pledges to patients, public and
staff, which the NHS is committed to achieving. For NHS staff, the Constitution will mean an
NHS-wide commitment to equipping them with the tools, training and support they need to
deliver high quality care for patients.
The final Constitution includes:
■ A right to makes choices about your care and to information to help exercise that choice
■ A new legal right to receive the vaccinations that the Joint Committee on Vaccination and
Immunisation recommends that you should receive under an NHS-provided national
immunisation programme
■ A right making explicit your entitlement to drugs and treatments that have been
recommended by NICE for use in the NHS, if your doctor says they are clinically
appropriate for you
■ A right to expect local decisions on funding of other drugs and treatments to be made
rationally following a proper consideration of the evidence
■ Clear and comprehensive rights to complaint and redress
The Health Bill, published last week, will underpin the new Constitution by creating new
legislation to ensure that the Constitution will be reviewed every 10 years and a duty on NHS
bodies, as well as independent sector and third sector providers of NHS services, to have
regard to the Constitution.
The NHS Constitution can be found at www.dh.gov.uk/nhsconstitution.
curve in her spine, we’re not quite sure
what this means for her future but like
the true fighter that she is I’m certain that
she’ll face whatever comes her way. To say
it was a shock that she was born with a
rare chromosome disorder is a bit of an
understatement, nobody had information,
they didn’t expect her to survive the first
12 hours. We have been given a very bleak
outlook for her future but at the moment
she is doing very well.
She is 7 1 ⁄2 months old and she is still small,
weighing 8lbs 5oz now, but she is getting
very active learning to roll over by herself
and is very vocal. She doesn’t let the cleft
hold back her voice. Anna loves to watch
TV. She is constantly smiling and not a bit
strange with people. She recognises voices
and is such a little charmer. She attends The
Cope Foundation once a week for physio
and lots of exercise she enjoys it very much.
Finding Unique has been such a great help
to me and my extended family – we have
gained a lot of information and help from
ye since her birth and I would like to thank
ye all very much for that. Anna is a joy to
be around and would make you smile no
matter what. I am so proud to be the
mother of such a beautiful, special and
unique daughter and although the future
for her remains uncertain I’m sure we’ll face
what comes our way with the determination
that she has shown since the day she was
born.
Many thanks for writing about Anna, Tracey.
Anna’s grandma Dolores has done us proud
by running in the Cork Marathon and
raising a wonderful £1,397 for us which she
wants put towards the Information Project.
Thanks so much Dolores!
Trisomy 9 Mosaicism
Briony Burgin: DOB 22/03/1992
Jane Burgin, 108 Occupation Road,
Harley, Wentworth, Rotherham,
South Yorkshire S62 7UQ, England
Email: 1stpriority@uk2k.com
Briony is sixteen
years old now and
doing a two year
course in 6th Form.
At eighteen she will
be able to take a
place at a local
college until she is
22 years old. She
enjoys photography
and catering, she
makes delicious cakes and pastries for us
all. Still a keen swimmer, Briony goes to an
after school club on Wednesday afternoons
and it’s a social occasion when she can
enjoy a game of bowling, swimming or
a disco with friends.
Briony has had a lot of joint problems
over the last two years, her right knee
has dislocated three times now and physio
can only repair so much. Because of the
awkward way she walks, this has also put
pressure on her hip and lower back both of
which cause her pain from time to time. We
just do our best with her exercises. Briony
is still small for her age and has a poor
appetite although she eats a little better
than she used to and has a varied diet.
She still eats a small child’s portion.
Briony’s understanding is on a level of about
ten years and her general behaviour varies
between that and her real age of 16. We
have all of the usual teenage problems!
www.rarechromo.org
Page 9

Briony has a 13 year old sister and they
both push the boundaries whenever they
can. Briony can get frustrated when she
cannot for example follow the plot of a
television programme. She used to have a
problem with her anger management but
apart from the teenage outbursts she is able
to control her emotions better and we can
talk things through.
Briony is a very loving, caring person and
very thoughtful of other people’s feelings.
She does not have any friends outside
school and family life. We do not know
what the future holds for Briony but she
is our little star and brightens our lives.
Tetrasomy 9p Mosaicism
Alison: DOB 20/05/1991
Mitzi Hyland
Email: mitzi02@bigpond.com
Alison was born on
the 20th May, 1991.
Pregnancy was not
as easy as my other
four children and
she failed to thrive
as one would
expect. When she
was born, she
weighed 5lb 13oz
which at the time
was unusual because my other four children
all weighed close to 8lb and over. At this
point it was not known about her genetic
abnormality.
When Alison was fifteen months old,
she was diagnosed with Tetrasomy 9p
Mosaicism. She progressed very slowly, and
because she had very low muscle strength,
she tired very easily. She didn’t walk until
she was almost two years old and although
it took her a long time to speak, once she
mastered it she hasn’t stopped talking since.
Alison is a beautiful child who accepts all
people for what they are. She attacks life
with so much enthusiasm that she even
makes me ashamed. With a lot of hard
work and dedication, Alison has
accomplished her year ten certificate. I find
it difficult to actually put into words just
how proud we all are of her. She is a delight
to all of her family and friends. They all
take pride in the way she fights for what
she wants and how she just keeps on
trying.
Deletion (11)(p13p13)
Mosaicism
Hannah Pinder: DOB 26/08/2002
Carolyn and Richard Pinder
Email: thefarndonpinders@btopenworld.com
Carolyn writes:
I’ve never written before as I have never
felt the need but I read your magazine and
feel so much empathy for the families who
feature in them and think “By the grace of
Chromosome 13 Deletion Network
Unique Mum Candace Carlson writes:
In the year 2000 my daughter, Kylie, was diagnosed with chromosome deletion 13 (q14.3 q22)
almost to the day of her 2nd birthday. To say I was overwhelmed, confused and scared was
an understatement. I spent countless hours researching this rare disorder to find out everything
I could on it in addition to more hours on current and new therapy to help her and yet still
continuing to see specialists. I searched for other children in the same situation and was
frustrated that I was always “looking”. Finally, it dawned on me to create a website and let them
find me! Thus, the creation of the www.chromosome13deletion.com/ website. I would like to
invite you and your family to visit our website and our support network. We are now close to
70 members and growing at a rapid pace. We have a private yahoo group because we share
stories, information and what works and doesn’t work with each other and want to protect
each other’s privacy on the very public internet. We are in touch with specialists on the latest
news, research and studies being conducted.
If your child has CD13, please consider joining our network family for support with your child.
We can be reached via email at info@solutionsinsite.com. I would also add that Kylie’s precise
diagnosis has been changed since she had microarray analysis done in a research study. She has
been found to have a small deletion in 13q21.1 and a separate larger deletion from 13q21.1 to
13q31.1
All the best
Candace Carlson
God…” Our daughter Hannah was born
nine days late on 26th August 2002. We
knew I was expecting a large baby but
10lb 13oz was much bigger than any of us
expected! I had gone into labour around
7am and my husband and I made our way
to Nottingham City Maternity Suite at
around 9am. Although it was August, it felt
particularly cold in the labour suite but as
my husband was feeling the chill, we didn’t
think there was anything wrong with me.
I had an epidural at
1pm and remained
in bed after this
time attached to
monitors, etc. I got
colder and colder
and the midwife
put more blankets
on me and even
turned the heat
lamps on to warm
me up. It wasn’t until the next midwife
came on duty at 7pm that she realized
that I had a raging temperature. It hadn’t
occurred to myself or my husband that I
had (we recognized the symptoms as soon
as she said it and felt rather silly!). The
previous midwife had not taken my
temperature all the time she was on duty.
Richard (my husband) and I were not aware
of any further problems until Hannah was
born at 11.27pm. She wasn’t breathing,
so they immediately took her to the
high dependency unit in neo-natal.
Unfortunately, as it was a Bank Holiday they
were short-staffed and there was no one to
stay with us while Hannah was being cared
for. Other than ringing the bell to ask, we
were not informed of her progress. When
anyone came, they told us they were
“working on her”. One of the medicines
they gave her should have made her pupils
dilate and when they didn’t the staff
realized there was more wrong than just her
breathing. They gave her lots of tests and
scans, etc and found that she had been
born with cytomegalovirus. We were lucky
it didn’t cause any added problems. She
also has a chromosome disorder; basically
part of the upper (short) arm of
chromosome 11 was missing, her pupils
remained contracted (this is called aniridia)
and there was the chance that she could
develop Wilms tumour on her kidneys. She
went for renal scans every three months
until she was five years old, by which time
the chance of developing a tumour were no
more than that of anyone else.
Her aniridia only bothers her when the sun
is low in the sky, ie at this time of year. She
had sunglasses to combat her photophobia,
although sometimes she still struggles. We
have never been contacted by the hospital
to find out why the midwife did not know I
had a temperature. It was never a question
we asked because there were so may other
problems too, I often wonder how long
it would have taken to realise about the
chromosome disorder had she been born
breathing!
My husband and I turned 40 this year, and
my mother-in-law 70, so we had a joint
party and asked for donations rather than
presents. We raised £700 which we decided
to split between Unique and Nottingham
City Hospital Neo-natal unit as she was in
high dependency for three days and then
low dependency for another three days.
Although we have been lucky enough not
to need your assistance with Hannah’s
chromosome disorder, there are lots of
families who do and I hope by raising
awareness to our family and friends, some
of them will think about your fantastic
work and donate to you again in the future.
I know a lot of them visited our website.
Please find enclosed cheques valuing £350
and we hope we can find other ways of
www.rarechromo.org
Page 10

aising awareness and donating monies to
your most valuable charity in the future.
Thank you so much for your generous
gesture Carolyn and Richard (and Richard’s
Mum). We are truly grateful!
Deletion (14)(q31q32.3)
Sara Pulido Marin: DOB 30/10/1996
Eva Marin Bercial,
C/Riera de Sant Jordi 139 3o 1a,
08390 Montgat (Barcelone), Spain
Email: inuk2000@terra.es
For a long time
we meant to write
the story of our
daughter Sara. Not
because we might
think she is special
or different to many
others, but just
because it is her
story… October
30th, 1996,
Sara at 15 months. 2 o’clock in the
morning and finally we will see Sara’s little
face. I was scheduled for a Caesarean, she
was a breech presentation, in spite of
having experienced a fully normal and
pleasant pregnancy. But Sara was in a hurry
and she did not want to wait. At 6.30 in the
morning and after a couple of pushes, Sara
peeked into this world.
Sign up for Unique’s
e-News alerts
More than 2,500 Unique supporters and
members now receive our email news
alerts with more people signing up all the
time. These are sent out every other
month and are completely separate from
this magazine. They contain up to date
news and features about our work, the
all-important fundraising efforts of our
supporters and other articles of interest
to you, our members.
The most recent edition contained news
about our newly-published and recently
updated disorders leaflets, the roll out of
our ‘Beating the Isolation’ work, our brand
new YouTube channel, Edna’s trip to
Buckingham Palace and the Big Fun Runs
2009 which anyone can get involved in.
Make sure you receive your copy and don’t
miss out!
To register for the emails, just send
an email to news@rarechromo.org
with ‘Email Register’ as the subject.
Alternatively please visit our website at
www.rarechromo.org where you can now
sign up from the home page.
We won’t bombard you with emails or
pass your email address on to third parties
and you can unsubscribe at any time. If you
have any suggestions for content such as a
fundraising event you wish to publicise,
please email craig@rarechromo.org with
the details.
She was born asphyxiated, with a purple
colour. She was revived and underwent an
APGAR Test 3-5-8. She measured 46cms
and weighed 2.250kg. I can still remember
as if it was yesterday that particular and
special cry that accompanied Sara for a
long time. When they showed Sara to me
I rapidly understood that something was
wrong, and that our destiny or God had
many surprises prepared for us.
Five days in the pediatric UCI, medical tests
and for the only answer to our questions
“NOTHING HAPPENED TO SARA, HER
MOTHER HAS A DEPRESSION POST-
CHILDBEARING AND THAT’S WHY SHE
SEES SUCH COMPLICATED THINGS…
…After 15 months in and out of the
hospital, medical visits, surgeries, feeding
problems and the doctors denial to admit
that something was wrong with Sara and
that I was not capable to solve. They
recommended me to visit a psychiatrist
to try to recover and solve my problems.
I reacted to all this nonsense and the
following week I scheduled an appointment
with a neurologist, who confirmed my
suspicions and a few genetic analyses
confirmed the diagnosis: “Deletion of the
chromosome 14 q31q32.3 and an inversion
of the chromosome 9 inherited from her
dad”. I cried so hard as I will never again
in my life be able to cry again and not only
because Sara was different and special, but
due to the fact the doctor did not know
where to start. Internet, medical specialists,
medical tests, therapies fears, check-ins,
surgeries, work and lots of work. Ughh!
That was 10 years ago, and those years
have not been easy, not easy at all. Besides
chromosomopathy, she has epilepsy,
moderate mental deficiency,
hypothyroidism, farsightedness, ptosis,
dentition problems, constant ear infections
and intestinal problems.
She attends a
special education
school, she swims
quite well, she loves
to play with dolls,
Princess Barbie
DVD’s, music,
football (she is an
expert), boys, ahh!
boys…Jajaja, and
she is very, very
Sara at 11 years. happy!
About 9 months ago, her neurologist Dr
Muñoz Yunta died unexpectedly, he was our
travel companion, friend, sight for sore eyes
and problem solver… but we must go on
and in that we are. Last month we received
Sara’s official disability certificate, and she
is 77% disabled. But what this certificate
cannot quantify is the pride and satisfaction
that we all feel seeing Sara evolve and learn.
She gives us so much love, and all the good
times we share with her answers and
occurrences. She is brilliant!
www.rarechromo.org
Sara you are the motor of our lives, and I
cannot conceive mine without you. I adore
you, my daughter! If only some day you
could read this story… I only want you to
know that we will not be defeated, we will
win this game. You are a champion!
Duplication (17)(p10->p12)
Veronica Lupton: DOB 23/02/1995
Louise and John Lupton, 83 Ingham Drive,
Casula, NSW 2170, Australia
Email: jlupton@bigpond.net.au
It’s been some years
since I have written,
so I thought it was
time to update you
on Veronica. She is
now nearly 14 years
old and boy, what
a journey! Her
history is a complex
one, to which I am
sure most of you
can relate. She was diagnosed at 1 with her
chromosome 17 duplication which has
resulted in a severe intellectual disability
and orthopaedic problems. She had foot
surgery to correct talipes at 16 months,
bilateral hip reconstruction at 7 following
dislocations and her left knee was also
corrected surgically due to recurrent
dislocations in 2007. We are just waiting
for surgery to her right knee for the
same reason. It took her 3 years to sit up
independently and a further year and a half
to walk independently – unfortunately she
was never diagnosed with any of these
ortho problems as no doctor could be
bothered taking X-rays even though we,
as lay people, felt that she could have
underlying ortho problems. It has all been
crises management with each doctor only
interested in their part of the anatomy.
Again, I am sure many of you can relate
to this as well.
As part of her chromosome duplication
she also has Charcot Marie Tooth disease
(peripheral neuropathy) which seems to
have contributed greatly to her orthopaedic
problems. Looking back, she never
ceases to amaze us at her sheer guts and
determination – she basically had no right
to walk in the first place considering the
appalling state of her hips and despite
constant requests for doctors to X-ray her
hips, no one would listen to our concerns.
Sound familiar?
At the beginning of 2008 she also started
to get her periods which I have to admit
was not as scary as I thought it would be.
She handled it really well (and I am pleased
to say, so did I!) and it was no bother to
wear pads during the day and at night she
was still in nappies so it all went rather
smoothly until she decided she wasn't going
to wear nappies at night. She has been toilet
timed and out of day nappies for a few
years but we weren’t quite ready for the
Page 11

very intense night-time training so we
were kind of putting it off, but Veronica
obviously had other ideas. It has been a
hellish year in that department with only
the odd night of uninterrupted sleep. Some
nights we were changing sheets 12 times!
She refuses to wear a pad at night so you
can probably imagine the mess at those
times of the month. After nine months of
saying “Veronica, you do wee/poo on the
toilet not in bed” and then putting her on
the toilet time and time again, we finally
had a big break through and one night
recently she put herself on the toilet and
did wee then put herself back to bed. At
last, the penny had dropped and all our
hard work was coming to fruition when
she dislocated her knee and is unable to
get herself to the toilet so we have to listen
out and hopefully catch her before she
wets the bed and put her on the toilet.
This has been a major hurdle for us and to
be honest we have been toilet training off
and on for 9 years. It seems that every time
we made some gains, some obstacle would
pop up and we would deal with that and
then get back into the toilet timing.
Needless to say, we are rather tired at this
point but are determined not to lose any
of our hard work, so we will deal with the
pre and post-surgery harassments as they
come up. I am sure that in the end all
the sleepless nights and frustrations will
be worth it, but it is hard to remain
optimistic when you are going through
these difficulties. I always love to read the
Unique newsletter from cover to cover
when it arrives, as it is a humble reminder
that so many others are doing it a lot
tougher than us.
If anyone has any ideas for keeping
pads on at night and would like to share
some ideas I would really welcome them.
Likewise, if anyone needs some advice
on toileting or has a child with a C17
duplication and would like to talk,
please feel free to contact me at
jlupton@bigpond.net.au.
Duplication 17p11.2
Christian Smith-Centeno:
DOB 11/08/1987
Julie Smith-Centeno,
2305 Kittyhawk Drive,
Plano, TX 75025, USA
Email: julie8788@aol.com
August 11, 1987
was an incredible
day. It was the day
an amazing little
boy entered into
the world after nine
months of waiting.
Christian was
delivered by
C-section due to
fetal distress.
He was too busy studying his new
surroundings to worry about crying; this
concerned the doctors. Oxygen was given
to him until he cried loudly. This little
guy didn’t spend much of his young life
crying. When he did cry though, it was a
demanding one. Christian was very alert
and always aware of his surroundings.
What got my attention in his early years
were his unusual body movements and
despite his properly scheduled eating
habits, his overly slender frame. His
gastroesophageal reflux might have caused
a bit of a lower body weight, but not
enough to warrant his borderline “failure
to thrive.” Christian’s unusual body
movements were another story. You would
often find him twirling his hands and feet.
When sitting in a car seat, he would rub
the back side of his feet up and down
the seat for the majority of the ride. As
Christian began sitting up; he would focus
intently at a spot directly in front of him
on the floor, lift his legs into the air with
them spread into a “V” position, and twirl
his hands and feet (picture above.) The
odd behavior could be broken by me
simply placing my hand over the area he
was focusing on. It was amazing to watch.
This was something that most of the
doctors brushed off as “babies do all sorts
of odd things.”
The odd behavior changed into other
stimming behaviors as Christian grew
up; rocking and twirling, pacing back
and forth. He now tells me that he was
listening to a “radio” in his head and
was hopping and skipping to the music.
Christian’s verbal skills were poor, even
after he had a velopharyngeal insufficiency
repair to correct his nasal emission and
poor tone of his tongue. He required
speech therapy well into his high school
years.
As a nurse with a physical medicine and
rehabilitation (PM&R) and pediatrics
background, and the niece of the frontier
in PM&R and head of the department at
UTHSC, Dr A Grant, one would think I
would have an edge on finding answers, a
diagnosis, and understanding to what this
was, by tapping into the many resources
I had. To my amazement, no one had an
answer. I was given a lot of guesses, but no
answers. I was working for a top pediatric
group that supported me in my quest. I
would sit and rummage through their
medical books and discuss various tests
Useful health links for people with special needs
National Health Service website
www.nhs.uk/Pages/homepage.aspx
Official site of the National Health Service. Get expert information on conditions, treatments,
local services and healthy living.
Easyhealth – new health website for people with learning disabilities
www.easyhealth.org.uk
A new website has been launched hoping to pull together accessible health information
from several organisations across the country and make it easier for people to access health
information, using simple language and illustrations. A very useful website to all, also has signs
and speech.
Contact by post:
Generate, 73 Summerstown, Tooting, London SW17 0BQ
Tel: 020 8879 6333
www.generate-uk.org/
Generate have developed a number of new initiatives benefiting people with learning
difficulties, their families, their professional support networks, and the community as a whole.
They actively involve their members in the design and implementation of new projects, often
as paid workers.
USA MEMBERS
United Healthcare Children’s Foundation grants
The grants provide financial relief for families who have children with medical needs not
covered or not fully covered by their commercial health benefit plan. The Foundation aims to
fill the gap between what medical services/items your child needs and what your commercial
health benefit plan will pay for.
How does the grant work?
If a grant is approved by the Regional Board of Directors for your child, the grant will help
pay for approved medical services/items after your commercial health benefit plan submits
payment, if any.
The grant funds are not paid to you or the child outright – you work with the Foundation on
submitting invoices/bills for approved medical services/items after your commercial health
benefit plan submits initial payment (if any) to the health care provider.
United Healthcare Children’s Foundation MN012-S286
PO BOX 41Minneapolis, MN 55440-0041
www.uhccf.org/apply_applicant.html
www.rarechromo.org
Page 12

22q13 Deletion
UK Family Day
Saturday 9th May 2009
22q13 UK Family Day to be held at
Konstam Children’s Centre
75 Chester Road, London N19 5DH
9:30am–4:30pm
The main focus of the day is to meet other
families with children with 22q13 deletion.
We will have a number of programmes for
kids, parents and siblings throughout the
day.
For more information or to register please
contact Alison Turner by email or phone.
alisonjaneturner@hotmail.com
020 8347 9303
07788 521 693
that might help. In those days, the only
diagnosis given to him was Pervasive
Developmental Disorder. According to
the neurologist, he could not be truly
diagnosed Autistic until he was five years
old. That was actually a God Send, now
that I look back. With the attention Autism
is getting these days, he would have
absolutely been given that label and all
else may have been dropped. Christian
did display all the symptoms one would
look for in Autism; lack of eye contact,
unresponsive when his name was called,
lack of interest in toys (very tactile),
delayed speech development, etc. My
instincts told me it was more. I refused
to settle for Autism or “unknown.”
One day I was reading about Fragile X
Syndrome. I inquired about genetic testing
to rule this diagnosis out. I was blessed
to be placed in the hands of a geneticist
who happened to be studying the opposite
of this deletion, SMS. He told me of the
duplication and that it was “like looking
for the one tree that fell in the forest.”
The geneticist knew of only three other
individuals in the world with this
condition. He however did not know of
anyone who was studying it. The doctor
told me to check back in a few years to
inquire about the status of any possible
studies. I called every six months.
Christian was four when he was tested; it
was not until he was nine that we were
told about Baylor’s testing. We entered the
study along with a young man who had
SMS. That was the beginning of my quest
to help find others with this duplication,
and to help educate the medical profession.
Christian graduated from high school and
has recently turned twenty years old. He
continues to display uncontrollable hand
posturing when his mind is focused on
something, poor fine motor skills, delays
in cognitive development, and decreased
reaction time (so he won’t be driving any
time soon). He is capable of using the
microwave, dressing himself, and caring
for self during the day. He is extremely
routine oriented with eating and sleeping
schedule, though it can be disrupted when
he is given notice. He has an incredible
mind for maps, roads, and geography.
Since his academic level is between the
5th and 8th grade, a degree does not seem
likely. Christian’s view on life is wonderful
and he has chosen to use writing to
express his views. The “Christianville
Spirit” newsletter goes out to family and
friends on a regular basis. My quest is to
help parents with answers and to facilitate
in educating those who the parents will
look to for answers. My request to you is
to stop and listen to a parent that says,
“Something is not right with my child.”
A mother’s instinct goes a long way; a
compassionate physician, however, goes
even further.
Additional unidentified
material on 18p
Timothy James Baker: DOB 18/02/1988
Mother Sheralyn Hughes, Grandparents
Maureen and Terry Lockwood,
1/11 Blakeley Street, Mandurah,
WA 6210, Australia.
Maureen writes:
How Unique has advanced. I first became
aware of Unique on a trip to the UK in
1997. Our grandson Tim Baker is a boy
with special needs; he has 2 extra pieces
of chromosome 18. He has little speech,
epilepsy and autism.
The Australian made film The Black Balloon
which won many awards here recently
(Toni Collette) is a film about ‘our Tim’.
Apparently the producer has 2 autistic
brothers and it is so true to the life of our
Tim. Tim’s younger brother Ned (9) said
when he saw the film “that’s so much like
my brother and he’s hard to put up with,
imagine having two!”
Tim is now 21 and has just got into a semi
residential situation, 10 days at the house
and 4 days at home. It is so much easier
for our daughter and her family and it’s
quite close to our home in Mandurah, so
we get to see him quite a bit. He still loves
to sit and watch ‘The Wiggles’ with Poppie
(Poppie just about knows the films by
heart!).
Having a child with special needs is a
‘unique’ and daunting task and it takes
special people to cope. Our daughter, her
husband and her ex-husband (Timothy’s
dad) do a wonderful job but they have
needed a lot of support and it’s ongoing as
they and the child (in our case, now a
man) get older. Keep up the good work
with Unique, it’s always helpful to know
you are not alone and much is being done
for the group. We have our own group
‘MIDWAY’ here in Mandurah, Western
Australia and they have been a wonderful
support network for us.
www.rarechromo.org
Microduplication 22q11.2
Lukas: DOB 18/01/2008
Lindsey Roberson, 521 Petain Street,
Defiance, OH 43512, USA
Email: lindseysuks@yahoo.com
My name is Lindsey
and my son’s name
is Lukas. We live in
Defiance, Ohio.
When Lukas was
born, on January
18, 2008, the
doctor said that he
had a heart murmur
and that he would
most likely grow
out of it. I have one too, so we didn’t really
think much of it. At his first doctor
appointment we found out that he wasn’t
really growing. He had gained 1 pound in
a month and a half. I asked the doctor to
refer us to a cardiologist, because I started
to think that his heart wasn’t completely
“normal”. He couldn’t get in to see the
cardiologist until June which was 4 months
away.
On February 24 Lukas got very sick and
everything he ate would come right back
up. We took him to the emergency room.
There, they gave him a spinal tap (to test
for meningitis), they did blood work, a
urine test, and put him on a saline drip.
The ER doctor came back into our room
about an hour after we got there and told
us he would have to be moved to a larger
hospital an hour and a half away that had
a pediatric ICU, because they were more
equipped to take care of Lukas. We still
had no clue what was going on. Lukas was
transported to St Vincent medical center in
Toledo Ohio by ambulance. When we got
there we were asked loads of questions and
then more tests came, another spinal tap
and more blood work. The nurse said he
had RSV and would be admitted until it
was gone, which could take up to 6 weeks.
Later on the doctors noticed that Lukas was
breathing heavy. They ordered an ECHO.
When the results came back he was
diagnosed with a coarctation of the aorta.
The doctor said that he had to have heart
surgery at another hospital that was two
more hours away, in Ann Arbor Michigan.
That hospital wanted to wait 6 weeks to do
his surgery when they knew the RSV was
completely gone, but the doctor said he
didn’t have that long and that 2 weeks
was the longest he could wait. So, while he
was in Ohio waiting for his transport to
Michigan they stabilized him and he was
not allowed to eat anything.
When he got to Michigan they did his heart
surgery on March 13 and he made it
through perfect. Through this whole ordeal
he had 4 blood transfusions, 2 spinal taps,
and a countless number of meds and IV’s.
They started trying to teach him how to eat
Page 13

FUNDRAISING a
Fundraising in our 25th Year
2009 is our 25th anniversary year –
what are you planning to do this
year to support us?
We’ve got lots of fundraising ideas
for you in this magazine from the
launch of our new lottery to taking
part in the UK’s Big Fun Run
events. Got an idea of your own
– then let us know?
A big thank you to all of those who
responded to the Annual Donation
request. If you have not yet
responded and would like to, we
have included the flyer with the
magazine once again. Since we
began our appeal in the summer
you have kindly donated £2,000 towards our costs. I’d also like to know
your thoughts about the card inserts. Did you use them at all and if not
how else do you think we could encourage more donations from our
extended group of friends and family?
Calling all overseas supporters – donations in Euros and dollars are now
worth more to Unique! Whilst the current economic climate is really
quite depressing, one of the benefits of a falling pound is that donations
from families in Australia, Canada and Europe are now worth more in
sterling than 12 months ago. For example; an AUS$50 donation last
January was worth £83 and is now worth £99 and a 50 Euro donation
was worth £37 to us and now coverts to £48.
The sale of our Unique Christmas cards last year went down well with
you all and we are delighted that so many of you support us through
this activity. As ever we are looking at new designs for next year already
and you’ll find details of our children’s Christmas card 2009 design
competition on page 7 of this issue.
We would also like to ask supporters to designate their donations
towards specific activities such as; the Unique magazine, the website,
our database or the Information project. So if you are making a
donation of £100 or more, please let me know your preference.
To round off 2008, a few thanks yous to those who took part in events
during last year:
■ Dolores Mulcahy took part in the Cork Marathon and raised a
wonderful £1,397 which has been designated towards the Information
Project. You can see her granddaughter Anna Cunningham’s story on
page 9 of the magazine.
■ Jason Frost ran the Peterborough marathon and raised £1500 through
his justgiving page, with a further £1,045 matched from Deutsche
Bank.
■ Alison Young took part in the Cardiff Half Marathon raising £200.
■ Paul Turner entered himself into the Dublin marathon and through
Justgiving collected £787.
■ Annie Andrews, Sarah French and Maeve Garcia all ran at the O2’s
Run to the Beat event in October raising £1,780 so far.
Using a celebration to fundraise is always so appreciated, so our thank
yous go to:
■ Peter and Audrey Munnings who celebrated their Golden Wedding
Anniversary and raised £295.
■ A friend of Anne and Len Sparks celebrated her 90th birthday and
sent in donations totalling £100.
■ Christine and Robert Butler from Glasgow celebrated their 25th
wedding anniversary and friends donated £300 to Unique.
■ Carolyn Pinder from Nottingham had friends celebrate their 40th and
70th birthdays and collected £350 from donations in lieu of gifts.
Carolyn wrote a lovely letter about Hannah’s progress, which we’ve
included on page 10 of this issue.
■ And a big thank you to Sophie Ervine
(right) who for her 4th birthday received
£50 in donations from friends and family
in Cheshire. She was in hospital leading
up to Christmas, and thankfully made it
home on Christmas Eve.
On a sadder note, grateful thanks go to
everyone who collected donations in lieu
of flowers in memory of the late Mrs Ecila
Harris £207.
Our thanks go to all of you who simply
made a donation – we are extremely
grateful for your generosity and extend special
thanks to those who continue to support us through a regular donation.
Other fundraising events I’d like to mention include:
■ Jayne Gadsby who donated £250 following the sales of unwanted
items on ebay.
■ Scamps Parent and Toddler group in Dorset also donated £250 from
the sale of baby clothes and toys.
■ Colin Taylor raised another £60 from his games nights.
■ Sue Edwards donated £207 from the sale of hand made cards over
Christmas.
■ Sophie Sainty and Auriol Herford held their annual Christmas party at
the Kite Studio in London raising £775.50 from the sale of artwork,
crafts and Christmas cards.
■ Thank you to staff at the Westbourne School pre-prep departments
for making a donation of £52 instead of sending Christmas cards to
each other.
■ Well done to Pippa Rothwell from Surrey who held a coffee morning
raising £41.
Run, walk, jog, cycle, trek or row for Unique
2009 is our 25th anniversary year and we want to make it a really
spectacular year for fundraising and get as many people involved as
we can. Taking part in these events helps raise our profile in the local
community as well as helping fund our core family support services.
That’s why this year we have invested in places in over 18 running events
around the country, ranging from 26 mile marathon to 5k fun runs and
four Dragon Boat events which are great team activities.
The following details may not appeal to you, but what about your family
or friends! Encourage them to fundraise for Unique this year.
Marathons
Did you know there are 178 marathons around the United States of
America, 15 in Canada, 18 across Europe and 30 more across the rest
of the world? Running a marathon is often a lifetime goal and requires a
real commitment to get fit. If this ticks your box, then look through the
following websites and find a marathon that suits you.
www.marathonguide.com | www.races2run.com
You’ll find dates and registration details that will help you fulfil this lifetime
dream.
There are also numerous half-marathons (13.1 miles) around the world
and many more websites to help you find an event close to you.
www.talkrunning.co.uk | www.runnersworld.co.uk
Unique is delighted that we have 10 runners in the London Marathon
this April.
20 September 2009 is the date
for the Great North Run.
If you’d like to take part in the GNR, we still have some places available
as we’ve got over 10 runners who managed to get ballot places, which is
fantastic news for Unique as we should have about 25 runners in total!
www.rarechromo.org
Page 14

nd DONATIONS
GAPS Panto
You may remember from past Unique magazines that we were chosen as
one of three lucky recipients of £8000 from GAPS (Gatwick Airport Panto
society) in 2008. This year The GAPS cast invited us to attend their
pantomime Mother Goose. The show we were invited to was a special
charities performance on Tuesday 3rd February. Unfortunately this was just
after we had severe weather on the Monday, so many of the families who
had tickets for the show couldn’t attend as they were snowed in! Those of
us who did manage to get to the theatre saw a fantastic show and really
enjoyed it. Thank you GAPS!
www.gatwickpanto.co.uk/index.html
Gatwick Airport Pantomime Society (GAPS) was originally set up in 1990
to put on a pantomime, which unexpectedly made a profit. They decided
to donate this money to charity. This small act sparked a desire to make it
an annual event – the result of which is that GAPS now puts on award
winning shows raising thousands of pounds for charities in and around
Sussex and Surrey. 2010 will be their 20th anniversary.
Cast photo courtesy of: Julian Portch, email julianportch@hotmail.com (www.julianportch.co.uk/Home.aspx)
UK 10k runs –
London and Manchester
PLACES STILL AVAILABLE
This year we have 15 places in both the
Great Manchester Run on 17th May and
the Bupa London 10,000 on 25th May. All
we ask is that you can raise a minimum of
£200 sponsorship money and we’ll support
you with a personal sponsorship form and
a running vest.
If you or someone you know wants to take part in either of these events
then please contact julie@rarechromo.org or call on 0117 979 8886.
Fun Runs
The difference with a 5k fun run is
that you can walk round, even take
your dog and is also wheelchair
friendly – there are 14 runs in cities
across the UK, from Inverness to
Milton Keynes. Are you AND your
friends and family interested in taking
part in the Big Fun Runs this year?
If you’ve never done a fundraising
event before, then why not get a
group of friends, family, neighbours
and work colleagues together and
make a day of it – hopefully, we’ll
have nice weather this summer!
TOWN VENUE DATE
Derby Darley Park Saturday 8th August 2009
Liverpool Sefton Park Sunday 9th August 2009
Stirling Plean Country Park Saturday 15th August 2009
Dundee Camperdown Park Sunday 16th August 2009
Leicester Abbey Park Saturday 22nd August 2009
Coventry Memorial Park Sunday 23rd August 2009
Sheffield Graves Park Saturday 12th September 2009
Leeds Roundhay Park Sunday 13th September 2009
Cardiff Bute Park Saturday 26th September 2009
Milton Keynes Willen Lake Park Sunday 27th September 2009
Edinburgh Holyrood Park Saturday 3rd October 2009
Glasgow Bellahouston Park Sunday 4th October 2009
Perth North Insh Park Saturday 10th October 2009
Aberdeen Hazelhead Park Sunday 11th October 2009
There is a nominal entry fee of £8 per adult, £5 concession and all we
ask is that you raise a minimum of £50 sponsorship each.
An entry form is enclosed (UK magazines only) – if you need more
contact julie@rarechromo.org or look up the events at
www.bigfunrun.com.
Dragon Boat Racing
Following our entry in the Bristol Dragon Boat event last September,
this is a fantastic team activity and one I’d highly recommend. All you
need is team of at least 20 who are prepared to raise a minimum of
www.rarechromo.org
Page 15

FUNDRAISING and DONATIONS
£100 each. It’s a great family day out and ideal if you work in a medium
or large organisation where you can get the support from the company.
These are the dates and locations:
10 May Lowestoft
12 September Cambridge
21 June Peterborough
27 September Bristol
If you are interested and can guarantee a team then Unique will fund
the cost of the boat £350, providing you can raise £2,000.
Email julie@rarechromo.org.
www.doitforcharity.com
If you fancy something even more adventurous in the
UK like, skydiving or a parachute jump then search the
doitforcharity website or contact them on 020 7424 5533 and find your
ideal challenge.
www.charitychallenge.com
If you are looking for a challenge around the rest of
the world, in some of the most beautiful and
spectacular locations then contact charity challenge
for alternative ideas.
Support Unique and
you could win £25,000!
Unique has signed up with Unity
Lottery – a UK charity lottery with
a difference. Not only do you, our
supporters have the chance to win
a prize including a £25,000 jackpot
every week but we will receive 50p
from every £1 entry played which
will go direct to providing our
services!
We understand that Lotteries aren’t
everyone’s cup of tea, but if you think
your friends or family might be
interested then do please pass on
the information.
How Unity Lottery works
For just £1 per week you will be
allocated with a six digit Unity
Lottery number, which will remain
yours for as long as you wish to
keep playing. You can purchase
more than one number if you wish.
Every Saturday, the lucky winners
are selected at random and prize
cheques are issued and posted
directly to you, so there is no need
for you to claim. Winners have to
match 3, 4, 5 or all 6 digits of the
winning number in the correct
place in the sequence.
■ 6 digits in the correct place
wins £25,000
■ 5 digits in the correct place
wins £1,000
■ 4 digits in the correct place
wins £25
■ 3 digits in the correct place
wins £5
You have a 1 in 63 chance of
winning a prize
For more information on rules and
how to play and how results are published, please visit
www.unitylottery.co.uk.
You must be 16 or over to enter and be resident in Great Britain.
Play Unity Lottery for Unique today!
Joining couldn’t be easier. You have the option to pay in two ways,
either by direct debit or cheque. Just complete the application
form on this page and post to Freepost, Unity Lottery,
Barrow-In-Furness, LA14 2PE. Alternatively, visit
www.unitylottery.co.uk/unique where you can
download the form.
Thanks for supporting Unique and good luck!
www.rarechromo.org
Page 16

again after a month of no food; it was a
slow process. He ended up coming home
with a feeding tube on March 20. The
feeding tube was finally taken out on
Easter Sunday. Since he’s been home he’s
gone to the emergency room at least once
a month. He was also diagnosed with a
microduplication of chromosome 22q11.2.
This is very rare so we don’t really know
what’s going to happen. He had another
heart surgery on August 29, 2008 that
involved a heart catheter and a balloon to
open up the narrowing in his aorta again.
He’s got another check up in January… so
we’ll see when his next surgery is going to
be. Other than that he's doing just great.
He’s so happy all the time. You can’t even
tell that he’s sick. Sometimes it seems like
it’s never going to end, always one thing
after another. It’s very hard to see your little
baby laying in a hospital bed with all those
tubes, especially when we just took him in
for a cold and found out he had to have
heart surgery. But, we are very grateful and
proud. He has a great team of doctors
behind him.
49,XXXXY
Joseph Shean: DOB 29/04/1994
Zena and Mike Shean
Email: shean.family@virgin.net
Joseph Shean –
International Triathlete!
We must
boast about
Joseph’s amazing
achievement this
year! Our triathlon
club travelled to
Austria, in July, to
compete in a large
international event.
The children’s race
on Saturday was in
an Aquathlon format (swim 100m/run
900m). The youngsters were split into heats
according to age and gender. Joseph’s
younger sister Hannah was in an earlier
race with five other team mates and had
performed well. It was Joseph’s turn.
Unfortunately he was the only boy from our
club in this age group and we were worried
that he might be overcome by the event. All
instructions were spoken in German and
parents were not allowed in the transition
area, to help the children prepare the
equipment, as they are in races at home.
Anyway, it was Joseph’s turn. He looked
very solemn as he awaited the order to walk
along the wooden pier and then enter the
deep water start via some metal steps. Did I
forget to mention the swim was in a lake?
The competitors entered the lake and had
to tread water until the starting gun was
fired. Joseph was last out after the one
hundred metre swim to the shore. However,
he was cheerful and managed to play the
crowd with his waving and humour!
He then started on the run, we had club
members all around the course with drums,
whistles, flags, pom-poms and cow bells,
so he was not able to stop and walk at all!
He was fantastic and the proud smile on
his face when he finished and collected
his medal was priceless. Joseph Shean –
International Triathlete. Not something we
ever imagined ourselves saying! The local
triathlon community has always been very
supportive of Joseph but his taking part in
an event like this has always been
unimaginable before! Although we are
extremely proud of Joseph, we must also
add that he actually took part in the age
group a year younger than his chronological
age – although confident he would have
been able to complete the distance – he
would have been a long way behind the
other competitors and we do not think he
would have enjoyed the event as much as
he did. Anyway, best wishes to everyone at
Unique.
Well done Joseph! What an excellent effort!
In Sympathy
Gerard Garvey
08/10/1991 to 19/12/2008
Gerard’s Mum Mary has been a member of
Unique for nearly as long as I have and I
was desperately sad to hear that she has lost
her precious boy. You know you are in our
thoughts and prayers Mary. Bev
Mary writes:
Like many parents I have been meaning to
write an update about Gerard for so long
and just like everyone else our busy lives
mean lots of things we mean to do get put
off to another time. Now I am having to
write that our precious boy Gerard passed
away on the 19th December 2008. For a
long time now Gerard’s health had been
deteriorating, and although this was the
case, he still remained one of the happiest
boys you could ever meet, Gerard took a
bad chest infection and went into Yorkhill
Hospital on the 7/12/08. He went straight
www.rarechromo.org
to ICU and remained there for the next
11days. We had spoken to the doctors on
several occasions and although they did
everything they could, they told us Gerard
was not going to survive. As we had been
using Rachel House Children’s Hospice for
many years, we asked if we could take
Gerard there. The staff at ICU were
wonderful and arranged this for us. We
were very fortunate that Gerard was able
to spend his last days in a place he loved,
surrounded by family and staff who adored
him. I cannot imagine what our lives are
going to be like without him – he was the
centre of our world. When Gerard was born
we were told “take him home and love him,
you won’t have him for long and he won’t
be able to do anything”, well did he prove
all the doctors wrong, he achieved so much
in his 17 years and taught us so much. If it
wasn’t for Gerard we would not have met
most of the wonderful people we know and
I would not have achieved all that I have.
Gerard was an amazing young boy with a
smile that would melt your heart and a
wonderful sense of humour. We will miss
him so much and we were blessed to be
chosen as his family.
Gage Aaron Wade
March 8, 2008 – September 25, 2008
Gage’s Mum Jennifer writes very movingly
to tell us of her brave little boy and his loss.
Our hearts go out to you and your family
Jennifer.
The story of our son Gage is a brave, strong
and unique one. It’s also heart wrenching
and sad that no one will ever get to know
Gage as we did. When I was 20 weeks
pregnant with Gage, the doctors discovered
by ultrasound that our baby boy had some
severe medical conditions. We were told
that our son had extra skin folds at the
nape of his neck (similar to that of Downs
Syndrome kids), his kidneys had severe
reflux in both which would end up causing
constant urinary tract infections, he had a 2
vessel umbilical cord instead of the typical
3 vessel cord and that he had a congenital
heart defect although they could not tell
which type of defect it was. We were told it
Page 17

was either hypoplastic left heart or a VSD.
We decided to go ahead and have an amnio
done and the results came back negative
for the most common birth defects.
However, we were not aware at the time
that the amnio did not test for very small
chromosome deletions and for that matter,
we had no idea what a chromosome
deletion even was. During this time, we
were living in Hawaii just finishing up our
3 year US Army tour there when we were
“medically moved” to San Diego to deliver
our ill baby at the Naval Medical Center
San Diego which is known for their
incredible NICU work. Gage Aaron Wade
was born on March 8, 2008 a month early.
He weighed 5lbs 9oz and was 19" long.
Being a mom, everything about our son
looked normal and perfect, regardless of the
supposed medical conditions. As soon as
Gage was born, I was allowed to hold him
for literally 2 minutes before he was taken
away from me and rushed to the NICU for
immediate intervention. Gage was put on a
ventilator the day he was born and would
remain on the ventilator for the first 21
days of his life. At the time we thought that
was the most difficult thing in the world,
but we were just about to face the hardest
journey of our lives. During the first couple
months of Gage’s life he remained on
constant oxygen and had a surgery called
a Nissen fundoplication to tighten his
stomach around his esophagus to stop him
from refluxing his formula every time he
ate. Gage also had a g-tube placed for
Please contribute
towards the cost of
your membership
You will notice that we have included
an insert with the magazine, entitled
‘Support Your Group’. Signing up to
join Unique is free of charge but
providing our services costs us £35
($US70/€45) per member family per
year. As part of your membership of
Unique, you receive 3 copies of our
magazine per year, together with the
latest available information about rare
chromosome disorders, a dedicated
telephone and email helpline and a
Family Support Officer who can
provide guidance and information on
many aspects of raising a disabled
child.
Please consider making a contribution
towards the cost of your membership
to enable us to go on supporting
families and individuals affected by rare
chromosome disorders. Please see the
flyer for details, or you can call Julie on
UK number 0117 979 8886 or email
julie@rarechromo.org.
Thank you for your support!
feedings since he was not able to nurse or
drink from a bottle. At the same time, Gage
had a ureterostomy to re-route his left
kidney ureter to the outside of his body
since there was a blockage between his
kidney and bladder. When Gage was three
months old, he was transferred to Rady
Children’s Hospital where he underwent
VSD surgery to repair what turned out to be
a hole in his heart and to clean some of his
heart valves which were abnormal as well.
During his stay at the Children’s Hospital,
Gage was re-intubated and put back on the
ventilator. Gage also contracted a severe
fungal infection that almost took his life. At
five months of age, Gage had returned to
the Naval Hospital and moved to the PICU
where a broviac IV and tracheostomy were
placed after being diagnosed with severe
tracheomalacia. Gage’s tracheomalacia was
so severe that his trach was attached to a
ventilator with high pressures to keep his
windpipe open and to keep him breathing.
At six months of age, Gage had a MRI and
was diagnosed with severe brain damage,
hydrocephalus, deafness (from the diuretic
medications), possible blindness and we
were told that he would be bed ridden
and be on a ventilator for the rest of his life.
The doctors said Gage would be infant-like
always. We were given the options of either
removing him from life support and letting
him go on our terms, putting him in a
child’s convalescent home where he would
live full time and we could visit him on the
weekends, as the home was hours from our
home or to bring him home with us where
he would probably have such severe oxygen
depletion (he would desaturate and turn
purple if he got mad or had a dirty diaper
or was uncomfortable, even on the
ventilator) that we would have to rescusitate
him and the doctors were not sure we’d
be able to. It was then that we made the
hardest decision of our lives. We decided
to remove Gage from the ventilator and let
him be free. I get the feeling that Gage
knew what was happening and that he
was happy that he was finally going to be
healthy. Gage hardly ever smiled and we
never got to hear his voice, but for two days
before he left us I must have gotten 30
smiles from Gage in those two days. I think
he was telling me goodbye. It was amazing.
He also saw angels and God I believe. Gage
always slept most of the day and night but
for an entire day before he was gone, he
started tilting his head backwards and
looking up at the ceiling above his bed. It
was unusual for him to do and I feel that he
was seeing who would be waiting for him
the next day as he went to be an angel, our
angel. Gage passed away on September 25,
2008, it was a beautiful, sunny day and
we were able to take Gage outside to a
beautiful healing garden. This was only the
second time we were allowed to take him
outside in his entire six months and even
www.rarechromo.org
Jeans for Genes 2009
Guest Charity
We are delighted to announce that we
have been chosen as one of the guest
charities for the 2009 Jeans for Genes
campaign. We applied to Jeans for Genes
for funds to help pay for a series of
study days on specific rare chromosome
disorders that we are planning for 2010.
We’ll write more about this in the next
issue of the magazine. In the meantime,
look out for more information on our
website.
then, we had half of the hospital with us…
doctors, nurses, respiratory therapists and
a social worker. Even with everyone there,
just holding him and staring at him and
loving him was peaceful and wonderful.
When it was time to let him go, we held
Gage tight in our arms and kissed him,
hugged him, loved him and cried as he left
us. We knew when he had made his way
to Heaven. Gage was born with so many
conditions (hydrocephalus, brain damage,
deaf, possible blindness, tracheomalacia,
pulmonary hypertension, interstitial lung
disease, VSD, abnormal heart valves, kidney
problems, low set turned ears, small hands
and feet, high palate, small mouth and chin
and feeding problems) and looking at him,
unless you were a geneticist, you would
never guess that every single cell in his
body was affected. Gage had the most
beautiful, deep eyes. He would stare at
you and your heart would melt. It’s like
he could see everything you were thinking
and he was such a gift. His eyes were the
window to his soul and what a wonderful
soul our son has. Gage had so many things
stacked against him from the beginning, but
he fought every single day of his life. Gage’s
chromosome deletion was so rare according
to doctors, yet I have met so many others
whose children have been born with these
deletions. Some, like us, have lost their
children and others have children who fight
every single day to live a semi-normal life.
Gage is amazing and wonderful and unique
and we love him and miss him so very
much. We are proud that we were given
him, even if for a short period of time. We
are proud and blessed that we were chosen
to be his parents and we would never have
given that up for a minute. We know that
Gage is in Heaven where he has no more
pain, no more sickness and no more
restrictions. He is free and happy and
healthy and the day that we are reunited
with him will be amazing. We miss you and
love you with all of our hearts Gage and we
know that everyone who reads about you,
whether they knew you or not, would have
loved you too.
Page 18

Collecting my MBE
Edna Knight,
Founder and Life
President of Unique
Appointment at the Palace:
Well the day finally came and on the 10th
December 2008 I went with two of my
daughters, Linda and Claire, to Buckingham
Palace to be presented with the MBE by Prince
Charles, following my award in the Queen’s
Birthday Honours list last June. This was in
recognition of the work of setting up the
charity Unique (Rare Chromsome Disorder
Support Group) and services to families with
children with chromosome disorders as the
citation said. So my thanks to you all, the
membership of Unique and the staff who have
made the group what it is, and the award
possible. It was a very exciting day and my
daughters and I thoroughly enjoyed it.
The journey there was a bit of a challenge due
to the corporate car we booked, or rather the
driver, who was in no hurry and seemed
unaware of the time we needed to be there.
We finally arrived just in time and after a dash
across the forecourt we climbed the red
carpet stairs to check in. Were we really in
Buckingham Palace? It was so hard to take in.
We just had time for a visit to the ladies and
then we were directed, my daughters to the
ballroom where the presentations were to be
made, and me as a recipient, to the picture
gallery to meet others who were also to
receive awards. There were 102 awards that
day, and the ceremony lasted about 75 minutes.
We were instructed on the procedure to be
followed and then waited until it was our turn
to be called. Each group consisted of about 12
recipients. You are guided through the Palace,
relieved of your handbag and after again being
checked off the list to make sure you enter the
ballroom in the right order you wait by the
door. When told, you move forward to an
officer just inside the ballroom where all the
guests are seated on your right, and Prince
Charles to your left speaking to the previous
person. You wait, then your citation is read out
and when your surname is said you move
forward, turn towards Prince Charles, curtsey,
www.rarechromo.org
walk towards him and stop. Prince Charles is
standing on a raised platform. He puts the
award on you and says a few words. He asked
me how I became involved in Unique, and how
we raise funds, and hoped that the MBE would
help us by raising awareness and with
fundraising in the future. He finishes the
conversation by shaking your hand, which is the
signal for you to walk back a few steps and
curtsey again and turn right and walk out the
door. After waiting so long for this day, it all
seemed to be over so quickly. As you exit the
door your medal is removed and placed in a
box. You are then directed to the back of the
ballroom and are allowed to watch the
remainder of the recipients receive their
awards. When all the awards have been given
and the national anthem sung, Prince Charles
leaves the room. You then meet your guests
and together you go to the courtyard to have
the official photographs taken. It is over so
quickly; you wish you could do it again and take
things in more. What an experience!
On leaving Buckingham Palace, my daughters,
Linda and Claire, took me to a Gordon Ramsey
restaurant for a meal, which was very welcome
and gave us a chance to relax, celebrate and
think through the day. We then returned home
and together with Wendy and Julie, my two
special daughters, we all went to a local
country hotel for tea, which consisted of
scones, jam and cream and a large pot of tea.
What could be better than to sit with my four
daughters and talk through the events of the
very special day. A day we certainly will not
forget and it is all thanks to Unique.
Page 19

A day in the life of…
A Residential Respite Service
I have known sick children’s nurse Geraldine Sharpe since Jenny was a baby. Geraldine is manager of
Mulberry House, where Jen spent many happy times for short breaks until she was 18. Bev
Geraldine writes:
My background is as a Sick Children’s Nurse but
I have been working outside the acute sector
for over 20 years now. I work at The Children’s
Trust at Tadworth Court and have had various
titles to my job description over the years but, in
effect, my role is to lead a team of nurses and
carers in one of the residential houses –
Mulberry House.
It is a purpose-built, one storey house
accommodating up to 8 children at a time in
one of four single or two double bedrooms.
Most of the children are aged up to 12 years
with profound and multiple learning disabilities
and/or complex health care needs. Up to five
of the beds are allocated for children coming
for residential short breaks, more commonly
referred to as “respite care”. Other houses on
site can also offer the same service for 1–3
children or young people (one house
particularly for older youngsters) but in
Mulberry House it is the primary service and
up to 30 families are supported in this way.
Children are referred for assessment by
parents/social worker/health care professionals.
This assessment is to establish whether the
child’s needs can be met – not only their
health/physical needs but also their social and
emotional needs. In offering short breaks the
hope is that a child will have a healthy, safe,
happy experience, accessing a new environment
and experiences and gaining an increased sense
of independence. At the same time families get
a break to recharge their batteries or to just
have a change of routine themselves.
I work shifts to help cover the 24/7 service with
internal rotation to night duty. Because of the
way the shift system works I do not have a
typical day – In one week I may work an early
shift starting at 07.00 and finishing at 14.50, a
late shift starting at 13.10 and finishing at 21.00
or a night shift starting at 20.30 and finishing
at 07.30. It includes working weekends (usually
alternate) when there are more children coming
to stay in the house. It may seem a tough
working pattern but the great thing is getting
to know children through the 24 hour period.
I do work some “office days” to catch up with
paperwork but the days/nights when I am
involved in direct care are more challenging
and rewarding for me.
All of the shifts start with a handover between
staff including checking that all medicines, feeds,
programmes and so on are “up-to-date”. If I am
leading the shift I will allocate children to staff
(including myself), linking the staff with the skills
and personality to meet the needs of one or
two children. Each child has a care plan which
details all their needs and how to meet them.
Three of the Mulberry Team.
This is based on information gathered from
parents/foster carers and other professionals at
the initial assessment and then updated at the
beginning of each child’s stay. Some children
need one nurse or carer supervising them all
the time – for example some children have
a tracheostomy (artificial airway) or are
dependent on oxygen or have intensive
medicine regime whilst others may need more
than one person to safely move them and
others a particular “nursing” procedure/s that
needs to be carried out in a set timeframe.
Coming out of handover all the children are
checked and greeted if they are awake. Personal
care, mealtimes, gastrostomy feeding and
medicines punctuate the day – a child’s usual
home routine is followed as much as possible
to provide some continuity with home life. Most
of the children need hoisting in and out of
equipment so the getting up routines can take
1–2 hours. Children unable to move themselves
also need to have their position changed during
the day and night using standing frames or a
wedge/comfy chair. As nurses and carers we
get our breaks to fit in with the children (20
minutes on the day shifts and an hour on the
night shift) and take them in the house.
On Monday to Friday in term time some
children will continue to access their own
school. Making sure that a child is ready for the
transport is part of meeting their needs. For
children who are staying on site (children whose
schools are too far for them to travel to or who
are not able to tolerate the journey) access to
the Surrey County School Teaching Service on
site is possible for an hour in the morning and
about an hour and a half in the afternoon in the
New Cheyne Centre on site – its just down a
short path from Mulberry House and the staff
take the children over and ensure that they are
supported in the class.
The period between the late staff arriving and
the early staff leaving is known as the “overlap”.
This time is used for staff supervision and
training, assessments, report writing, meetings
and reviews. A lot of the liaison work takes
place in the afternoons as well as following
up health and safety checks or maintenance
requirements or other orders. In the afternoons
meeting and greeting parents/carers bringing
or collecting children also happens. If a child is
going home he/she will leave the house by
14.00 so all their clothing and equipment is
ready by then (the night staff do the bulk of
the packing). New children arrive after 15.00
(rooms quickly cleaned and prepared!). A
number of children may have had hospital stays,
changes in feed or medicine regimes or changes
in their daily routines since their previous stay.
Outside the school hours and also at weekends
during the day there a lot of different activities
that the children can be supported by nurses
and carers to access in between meeting their
personal care needs, nutritional needs, medicines
and so on. A play specialist works in the house
with the nurses and carers to plan 1:1 and
group playtimes, reading stories, listening to
music, playing games, watching TV/DVDs,
cooking, coordinating parties or outings in the
holidays. The children can also go into a shared
multi-sensory room, a soft play room or go for
walks around the site maybe incorporating a
scavenger hunt and creating some art work
from the items collected. Fulham Football Club
come each Tuesday evening as part of their
Community commitment whilst hydrotherapy
can be available for children who come for a
short stay and are remaining on site on a Friday
morning in our pool – a new one is due to
open in April in the new Rehabilitation Centre
which will be even better resourced to offer a
multi-sensory experience for the children.
The night shift is very different from the day…
Keeping a child comfortable, sleeping well,
changing their position, giving overnight feeds
and medicines as well as ordering, stocking up,
packing for children going home the next day,
as well as cleaning wheelchairs and equipment
is all part of the night time routine.
Amidst all the caring for the children the
nurses and carers also have a huge amount of
communication going on to keep our house
ticking over and meeting statutory requirements.
We are particularly supported by our
administrative assistant who works 4 days a
week and filters a lot of the phone calls that
we get.
Overall I have a very varied role working with
children and families. The most rewarding part
is caring for the children and knowing that their
stays can enhance their quality of life and that
of their families. At the same time it is a team
effort and my “day in the life” hopefully reflects
that.
For more information on The Children’s Trust,
please see www.thechildrenstrust.org.uk.
www.rarechromo.org
Page 20

ehaviour
Anxiety and Stress
Coping with the stress of having a child with
a disorder can be tough at times. You or your
child may suffer from anxieties, phobias or
depression. Here are some links to a few
organisations that offer specific advice on
these subjects:
No Panic is a totally voluntary charity, whose
aims are to aid the relief and rehabilitation
of those people suffering from Panic Attacks,
Phobias, Obsessive Compulsive Disorders,
other related Anxiety Disorders, including
Tranquilliser Withdrawal, and to provide
support to sufferers and their families
and or carers by the following means:
■ providing a confidential help-line, freephone
0808 808 0545, 10:00am to 10:00pm, every
day, staffed by trained volunteers
■ providing a night-time anxiety crisis line,
freephone 0808 808 0545, 10:00pm to
10:00am, every day (answerphone service
only)
■ providing a “contact” booklet service for
members wishing to make phone-friends
and pen-pals
■ providing literature, books, audio and video
cassettes relevant to the illnesses
■ providing a written recovery programme for
phobias, a simple, easy to follow step by step
guide to overcoming a phobia
■ providing a written recovery programme for
OCD a simple, easy to follow step by step
guide to overcoming OCD
■ providing lay-person self-help cognitive and
behaviour therapy as a basis for recovery
No Panic, 93 Brands Farm Way, Telford,
Shropshire TF3 2JQ, England
Helpline: (FREE) 0808 808 0545
Office: +44 (0)1952 590005
www.nopanic.org.uk
No more panic
This site provides valuable information for
sufferers and carers of people with Panic,
Anxiety, Phobias and Obsessive Compulsive
Disorders (OCD). Its purpose it to provide
members with support, advice and a chance
to meet like-minded people and make friends
along the way. You should use the website
information, Message Forum and Chat room
alongside any care you are currently receiving
from your physician. www.nomorepanic.co.uk/.
Anxiety Care is a registered charity based in
East London that specialises in helping people
to recover from anxiety disorder and to
maintain that recovery.
www.anxietycare.org.uk/
Anxiety Alliance www.anxietyalliance.org.uk/
OCD Action’s vision is of a society where
OCD is better understood and diagnosed
quickly, where appropriate treatment options
are open and accessible, where support and
information are readily available and where
nobody feels ashamed to ask for help.
www.ocdaction.org.uk/home.htm
OCD-UK is the leading national charity,
independently working with and for people
with Obsessive-Compulsive Disorder (OCD).
www.ocduk.org/
For young people with OCD
www.ocdyouth.info/
US based website www.freedomfromfear.org/
For those that suffer from a dental phobia.
www.dentalfearcentral.org/
■ Anyone (worldwide) with an extreme
phobia of dentists
■ Anyone with specific dental fears
■ Dental professionals and dental students
with an interest in dental anxiety
management
www.depressionalliance.org/
www.bipolarscotland.org.uk/
www.mind.org.uk/
www.mhf.org.uk/
www.winddown.co.uk/
Royal College of Psychiatrists
External Affairs Department,
17 Belgrave Square, London SW1X 8PG
Tel: 020 7235 2351
Email: rcpsych@rcpsych.ac.uk
www.rspsych.ac.uk
Have a range of useful leaflets and information
for families.
Young Minds
48–50 St John Street, London EC1M 4DG
Tel: 0800 018 2138
Email: enquiries@youngminds.org.uk
www.youngminds.org.uk
YoungMinds provides information to parents
and professionals. It produces leaflets on
various topics, a directory of child guidance,
psychiatric and psychological services and a
newsletter.
The BABCP
The BABCP is the lead organisation for
Cognitive Behavioural Therapy in the UK.
www.babcp.com/
Cognitive Behaviour Therapy (CBT) is a
talking therapy. It can help people who are
experiencing a wide range of mental health
difficulties. What people think can affect how
they feel and how they behave. This is the basis
of CBT.
During times of mental distress, people think
differently about themselves and what happens
to them. Thoughts can become extreme and
unhelpful. This can worsen how a person feels.
They may then behave in a way that prolongs
their distress.
CBT practitioners help each person identify
and change their extreme thinking and
unhelpful behaviour. In doing this, the result is
often a major improvement in how a person
feels and lives.
www.rarechromo.org
Challenging Behaviour –
Supporting Change DVD
A new DVD Challenging Behaviour – Supporting
Change is now available from the Challenging
Behaviour Foundation. Challenging Behaviour –
Supporting Change shows how a functional
assessment may be used to understand
challenging behaviour and identify ways of
supporting behaviour change in individuals with
severe learning disabilities. In this 2-disc DVD
set meet Oliver, Dougie and Dominic and hear
Mark Addison (Psychologist) explain the
functional assessment process. Interviews with
family carers highlight the range of causes of
challenging behaviour, and how a functional
assessment can help put in place appropriate
behaviour management strategies for individuals
with severe learning disabilities. To view a clip of
the Challenging Behaviour – Supporting Change
DVD visit the Challenging Behaviour
Foundation website:
www.challengingbehaviour.org.uk. Produced
primarily for family carers, this resource also
provides a useful introduction and refresher for
professionals. The families’ stories demonstrate
the importance of a functional assessment and
provide insight into positive ways to support
families. Running time 70 minutes (approx).
Organisations/professionals: £63.00; Registered
charities: £33.00; Family carers: Free of charge,
donations welcome. All prices include post and
packaging within the UK.
More information and a resource order form
can be downloaded from the Challenging
Behaviour Foundation website.
www.challengingbehaviour.org.uk
Tel: 01634 838739
Email: info@thecbf.org.uk
Talking Therapies Explained
Talking Therapies Explained is a new booklet for
people wanting to find a therapist. Many people
make it their new year's resolution to find
a therapist but where do you start in the
minefield of talking therapy provision? The array
of different psychological therapies available in
the UK is bewildering. From psychoanalysis to
Cognitive Behavioural Therapy, people often
have no idea how to tell which treatment is
right for them. The Mental Health Foundation
has published Talking Therapies Explained, a
quick and easy guide for those wanting to find
the most suitable therapy for their needs. The
booklet explains the types of different therapies
available and how they work, as well as
organisations listing reputable therapists. To
help choose the right kind of therapy and
professional, the guide lists practical questions
to ask when looking around, invaluable when
navigating the confusing world of private
provision alone. Although work is being done
to address the accreditation and regulation of
therapists, unscrupulous and poorly qualified
practitioners can be difficult to recognise.
Page 21

ehaviour continued
According to the charity, the government’s
program to improve access to psychological
therapies on the NHS has only just begun so
receiving therapy on the NHS can still be a
lengthy process with an average wait of six
months. Psychological therapy can not only
improve an individual’s mental health but
also a person’s ability to manage family life,
relationships, a job or an ongoing physical
illness. Celia Richardson, Campaigns Director at
the Mental Health Foundation, said: “We hope
that this resource will provide a much needed
helping hand for people lost in the fog trying to
find a therapist. Many people don’t know
where to begin.”
For a copy of Talking Therapies Explained
telephone the Mental Health Foundation
on 020 7803 1101 or download it from
www.mentalhealth.org.uk (there is a small
charge for bulk orders).
The Autism Bill
The autism bill published on 22/1/2009
promises a brighter future for thousands of
people, says Mark Lever, chief executive of the
National Autistic Society. The first law to help
people with autism came a step closer to
reality today with the announcement that
Cheryl Gillan MP (drawn first in the private
members' bill ballot) will take forward the
autism bill with the backing of 14 autism
charities, including ours, the National Autistic
Society (NAS). This is fantastic news for the
over half a million people in the UK and their
families who are affected by this serious, lifelong
and disabling condition.
TNAS is urging people to pledge
their support for the bill at
www.think-differently.org.uk/campaign.
Feeling
Happy,
Feeling Safe
A colour picture
book for children
under 6 (could be
suitable for older
children with
learning disabilities) – stories about
getting lost, saying no, strangers, bullying
and more.
Available from:
Kidscape
2 Grosvenor Gardens
London SW1W 0DH
Tel: 020 7730 3300 Fax: 020 7730 7081
Helpline: 08451 205 204
www.kidscape.org.uk/
Kidscape helpline is for the use of
parents, guardians or concerned relatives
and friends of bullied children.
Helping Children who are
Anxious or Obsessional
72 pages, A4, illustrated, wire-o-bound.
A guidebook to help children who:
■ are insecure or worry too much,
■ suffer from phobias or nightmares,
■ find it difficult to concentrate to let go
and have fun,
■ have suffered a trauma,
■ are worryingly good or seem like little
adults,
■ use order and routine as a way of
coping with ‘messy’ feelings,
■ retreat into dullness as a way of
managing their being in the world,
■ develop obsessive-compulsive
behaviour in order to ward off
their too-powerful feelings.
What to do when you
worry too much: A Kid’s
Guide to Overcoming
Anxiety (What to do
Guides for Kids)
Paperback – available from
www.amazon.com.
"What to do when you worry too much" is
an interactive self-help book designed to
guide 6–12 year olds and their parents
through the cognitive-behavioural
techniques most often used in the
treatment of generalized anxiety.
Engaging, encouraging, and easy to follow,
this book educates, motivates and
empowers children to work towards
change. It includes a note to parents by
psychologist and author Dawn Huebner,
PhD.
Siblings
The Other Kid – a draw it out guidebook
for kids dealing with a special needs
sibling.
Written by Lorraine Donlon, who is an
elementary school special education
teacher at Centre Avenue School in East
book
Rockaway, New York. She is also the
elder sibling to two special needs sisters,
Eileen and Patricia.
Available in English and Spanish, this
workbook for children has been written
for children dealing with a special needs
sibling.
The Other Kid workbook was designed to
give siblings a way to open up and talk
about their feelings and concerns.
www.theotherkid.com/book.html
The book can be purchased through
www.amazon.com.
Out came the Sun
Written by one of Unique’s Mums Judith
Scott, “Out came the Sun: One Family’s
Triumph over a Rare Genetic Syndrome” is
a memoir describing her family’s journey
with Emily, who has a duplication
(13)(q22q34). The book was published
in late 2008 and Judith says response has
been very positive, especially within the
special needs community.
The theme of overcoming adversity and
struggling to accept a difficult
situation is one with which
many of us will identify. The
book is published by
Academy Chicago Publishers
(www.academychicago.com)
and its catalogue number is
ISBN 978-0-89733-582-9.
If you would like to contact
Judith, her email address is
gandjscott@comcast.net.
corner
www.rarechromo.org
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carers
Caring with Confidence
Caring with Confidence aims to help carers
make a positive difference to their life and that
of the person they care for. Carers can mix
and match how they further develop their
knowledge and skills – by taking part in one
or more free, local group sessions, by using
self-study workbooks or by accessing online
sessions. Caring with Confidence enhances the
training already available and helps to provide
learning opportunities for carers where there
is currently little available. It is not designed to
replace existing provision. Caring with
Confidence sessions will:
■ help you build on your strengths as a carer
■ give you the opportunity to share
experiences and learn from others in similar
situations
■ give you useful information, ideas and tips
about looking after someone
■ help you decide what you might like to
change about your caring role
Each session lasts three hours and includes a
refreshment break.
Caring with Confidence
Carrwood Park, Selby Road, Leeds LS15 4LG
Tel: 0113 385 4491
Email: cwc.info@caringwithconfidence.net
www.caringwithconfidence.net/
Home Dad
An interactive web site for dads bringing up
their children. Dads can meet up, offer advice
and support and share their experiences of
hands-on fathering. The site has news, features
and information, details on starting a playgroup
and how to find other home dads. There is a
bulletin board for messages and regular chat
room sessions.
homedad.org.uk/
New parenting site launched
– One Space
One Space is a new parenting site for single
parents whether they are pregnant, have
toddlers or teenagers, are separated, divorced,
widowed or have chosen to go it alone.
On the site, parents can get support from
experienced parenting experts, encouraging
them to take part, share their views and build
confidence in parenting alone successfully. You
can join online groups, chat, watch video clips
and share the ups and downs of life, at
www.onespace.org.uk.
A new website for
parents of teens
Parentline Plus is currently developing a social
networking website for parents of teenagers
entitled www.gotateenager.org.uk.
Launched in September 2008, the site will
be a space for parents of teens to share
experiences, swap tips and support one
another through the challenges and successes.
Aside from message boards, blogs and
Q&As, a number of features are planned such
as e-learning modules, Web TV Shows, an
online comic strip and a ‘teen-speak’ jargon
buster. For anyone with a teenager in their life.
Join for parent-to-parent support, informal
advice, useful information and a community of
other parents dealing with the same issues as
you.
Online relationship
help launched
One Plus One, the UK’s leading relationship
research organisation has launched
a new online service for parents.
thecoupleconnection.net is targeted at all
parents, but includes specific information for
fathers and parents of children with disabilities.
The site provides a developing range of articles,
self-assessment tools, activities and exercises to
help you to improve your couple relationship.
Much of the site is interactive, with a forum
which is visited regularly by trained relationship
supporters.
thecoupleconnection.net/
USA families
Find special needs and respite caregivers
in your area, for both children and adults
www.care.com/special-needs-p1162.html.
Useful web links for siblings
www.sibs.org.uk/
Sibs is the UK charity for people who grow up
with a disabled brother or sister.
www.youngcarers.net/
www.youngcarer.com/
showPage.php?file=index.htm
Australian sibling website
siblingsaustralia.org.au/
New Zealand sibling support
www.parent2parent.org.nz/start.htm
money matters
Disabled children to benefit
from record levels of
investment in services
Contact a Family is delighted with recent
confirmation in the Child Health Strategy of
GB£340 million additional funding to improve
health services for disabled children. Claire
Pimm, Director of Policy and Communications,
said: “High standards of healthcare for disabled
children are vital to improving not only their
health, but the entire quality of life for them
and their family.
“We are delighted that the government has
announced this substantial extra funding to
improve the experience of disabled children
and their families with health services. Due to
the complexity of their health needs, disabled
children and their families come into regular
contact with health services and need
confidence they are of the highest quality
and working to meet their needs.” The funding
was announced in the publication of the
government strategy Healthy lives, brighter
future: the strategy for children and young people’s
health. The GB£340 million will enable local
areas to work together to support children
with disabilities and their families and invest in
palliative care and end of life services, short
breaks, community equipment and wheelchair
services through Community Children’s
Nursing services. Another measure in the
strategy to benefit disabled children and their
families is a commitment that by 2010, all
children with complex health needs will have
an individual care plan.
www.rarechromo.org
Read the report in full at
www.dh.gov.uk/en/Publicationsandstatistics/
Publications/PublicationsPolicyAndGuidance/
DH_094400?IdcService=GET_FILE&dID=
184218&Rendition=Web
Source: Contact a Family e-Newsletter February 2009
Free childcare
scheme launched
The Department for Children, Schools and
Families has launched a £75million three-year
free childcare scheme which will help 50,000
low-income families in England. As part of the
scheme, childcare costs of up to £175 per
week per child (or up to £205 per week per
child in London) will be paid directly to the
childcare provider. This is to enable parents,
where only one partner is working or in some
Page 23

money matters continued
cases workless families, to be offered free
childcare so that they reassess their skills.
The programme, to be delivered through the
Learning and Skills Council, will start in 67 local
authority areas with the highest number of
eligible families in January 2009, and will then
be rolled out to all local authorities the
following September.
www.dcsf.gov.uk/pns/
DisplayPN.cgi?pn_id=2008_0189
Register for new service
from Family Fund
The Family Fund is launching ‘Family Fund Extra’
during October and is calling on families with
disabled children to register their interest.
Family Fund Extra is a separate scheme from
their grant making programme and aims to
help families make their money go further. It
will offer a variety of discounted goods and
services like electrical products and holidays.
It will also allow supporters of Family Fund
to make a difference to disabled children
through donations and ‘donate as you shop’
opportunities. If you care for a child or young
person up to the age of 25 years old and
would like to benefit from the discounts and
services Family Fund Extra will offer, register
now at www.familyfundextra.co.uk.
The Family Fund Comet gift card is a first step
towards the fully-fledged Family Fund Extra and
is already up and running.
tinyurl.com/667tbv
Cash pledged for children
with support needs in
Scotland
The Scottish government has pledged more
than £100,000 to help parents of children
with additional support needs. Children’s
minister Adam Ingram said the money would
be used to pay for advocacy services for
parents. Funding will be given to voluntary
organisations’ ‘Independent Special Education
Advice Scotland’ and ‘Govan Law Centre’ to
fund advocacy support and representation for
parents at tribunals.
tinyurl.com/5thm7h
special needs
A new website dedicated to
patient rights in the EU
The Centre for Biomedical Ethics and Law of
the Catholic University of Leuven in Belgium, in
collaboration with the European Commission
and EuroGentest, has launched a new website
devoted to delineating patient rights in the
EU. Seeking to encourage transparency and
facilitate the exchange of information between
researchers both within Europe and further
afield, the website offers an outline of the
legislative frameworks and key patient rights in
each of 25 EU countries. Beside setting out the
provisions of the Convention on Human Rights
and Biomedicine, the website offers information
on a variety of issues for each country, including
personal data protection, discrimination,
complaints and compensation, and informed
consent – matters all relevant to rare disease
patients, their families and caregivers. The
preparation of the website was undertaken
in the framework of the EuroGentest project.
Visit the Patient Rights in the EU website.
Adults with learning
disabilities to be given extra
support by dietitians
A new national set of good practice guidelines
has been developed by dietitians for health
professionals to prevent nutritional problems
as well as optimise the health and wellbeing of
adults with learning disabilities. This is a much
needed and long awaited authoritative
document for health professionals, bringing
together guidance about the nutritional care of
adults with learning disabilities receiving tube
feeding in one place. It includes comments
from carers interspersed throughout the
document that provides a poignant insight into
their lives and the value of the Person Centred
approach.
The executive summary is now available to
download from the The British Dietetic
Association website www.bda.uk.com. The full
document is available to BDA members and
RCN members; others may request a copy
by contacting the BDA.
Advocacy
Advocacy Partners
McMillan House
54 Cheam Common Road
Worcester Park, Surrey KT4 8RH
Tel: 020 8330 6644
Fax: 020 8330 6622
Email: info@advocacypartners.org
Advocacy Partners is leading the development
and delivery of independent advocacy services
in London and the South East. We enable
people with learning disabilities, older people
and people with mental health needs or
physical impairments to have rights that are
respected, voices that are heard and real
control over life decisions. We support people
to be treated fairly and to participate fully in
community life. Advocacy Partners currently
provides the IMCA service in; Camden,
Croydon, Islington, Merton, Sussex, Sutton,
Tower Hamlets and Wandsworth.
Action for Advocacy
PO Box 31856, Lorrimore Square
London SE17 3XR
Tel: 020 7820 7868
Email: info@actionforadvocacy.org.uk
www.rarechromo.org
Advocacy is taking action to help people say
what they want, secure their rights, represent
their interests and obtain services they need.
Advocates and advocacy schemes work in
partnership with the people they support and
take their side. Advocacy promotes social
inclusion, equality and social justice.
Together National Office
12 Old Street, London EC1V 9BE
Tel: 020 7780 7300
Fax: 020 7780 7301
Email: contactus@together-uk.org
Together Northern Office
Unit 22, Unity Business Centre
26 Roundhay Road, Leeds LS7 1AB
Tel: 0113 244 6992
Email: northernoffice@together-uk.org
www.together-uk.org/index.asp?id=19
Together supports around 3,500 people
through 100 different mental health services
across the country. We provide our mental
health services by working in partnership with
many other organisations, including housing
associations, health trusts, local authorities,
criminal-justice agencies, private and other
voluntary-sector bodies. Our most important
partners are the people who use our services.
We believe in working with people rather than
doing things for or to them. Inspired and
informed by our unique values, we run a full
range of different types of mental health
service, including:
■ advocacy services – supporting people with
mental health problems to make their views
heard
■ assertive-outreach services – reaching out to
those who find it hard to use traditional
mental health services
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special needs continued
■ community-support services – supporting
people with mental health problems in their
own homes
■ residential services – including care-homes
giving 24-hour support, high-support
residential services, and independent flats
with visiting support
■ day-support services – offering a
non-threatening environment where
people with mental health problems can
make new friends and learn new skills
■ employment and work-training schemes –
getting people back to work through skillstraining
or personal-development services
■ forensic services – for people with mental
health problems who have been in contact
with the criminal-justice system
■ services for carers – supporting those who
care for people with mental health problems
■ Service-user Involvement Directorate –
giving people with experience of using
mental health services a say.
National Youth Advocacy Service
Charity Number 1012485
Elena Fowler
Tel: 0151 649 8700 99–105
Fax: 0151 649 8701
www.nyas.net
NYAS is a UK charity providing socio-legal
services. It offers information, advice, advocacy
and legal representation to children and young
people up to the age of 25 through a network
of over 150 advocates. NYAS is also a
Community Legal Service.
Eye care for people with
learning disabilities
Look Up is an information service focusing on
eye care and vision for people with learning
disabilities. It is a collaboration between
SeeAbility and RNIB and it operates across
the UK to:
■ Raise awareness of the prevalence of sight
problems and the high level of under
detection of these problems amongst
people who have learning disabilities
■ Improve and increase access to regular,
accessible and effective eye care for adults
with learning disabilities
■ Enhance the quality of life for people with
learning disabilities when a sight problem
has been identified
■ Help social care and health professionals
to develop better services for people with
learning disabilities
For example: did you know that it is possible to
test people’s eyesight using pictures instead of
letters? The optometrist does not always need
a response from the person in order to find
out more about their vision.
Look Up, SeeAbility House, Hook Road,
Epsom, Surrey, KT19 8SQ
Tel: 0800 121 8900
The telephone line is available Monday to
Friday 10:00am–4:00pm.
Email: info@lookupinfo.org
www.lookupinfo.org
Kidz Exhibitions
Disabled Living organises the largest UK
exhibitions totally dedicated to disabled
children, their families and the health and
social care professionals who work with
them. Information on mobility, seating, beds,
communication access, education, toys,
transport, style, sensory, leisure and more…
A programme of FREE seminars and
discussions for both parents and professionals
will take place alongside the exhibition. These
cover a wide range of issues of interest to
families with disabled children and the health
and social care professionals who work with
them. Entry is on a first come, first serve basis.
For healthcare professionals, certificates of
attendance will be available to collect on
the day to boost your CPD portfolio.
New by popular demand
Kidz in the Middle
Thursday 12th March 2009
At the prestigious
Ricoh Arena, 71 Phoenix Way,
Coventry CV6 6GE
Kidz South
Thursday 18th June 2009
Rivermead Leisure Complex,
Richfield Avenue, Reading
Kidz Up North
Thursday 20th November 2008
Premier Suite, Middlebrook Exhibition Centre,
Reebok Stadium, Bolton
Just off junction 6 on the M61
Free entry, easy access, free parking
For visitors FREE entry tickets or more
information on any of their Kidz events please
contact the organisers:
Disabled Living
Redbank House, 4 St Chad’s Street,
Cheetham, Manchester M8 8QA
Tel: 0161 214 5962/5959
Fax: 0161 835 3591
www.kidzupnorth.co.uk/
New Tube Maps
New tube maps to make life easier for
thousands of Londoners, designs show toilet
facilities and give new information on step-free
use. Knowing where you can get on a tube
train without having to negotiate stairs or
which stations have a toilet, can be vital for
thousands of Londoners and visitors. To
make life easier for pregnant, elderly, or
disabled passengers the Mayor and London
Underground are launching two new tube
maps – a tube toilet map, and a new Step-free
Tube Guide. The tube toilet map shows which
stations have male, female and accessible toilets
www.rarechromo.org
for wheelchair users, whether they are inside or
outside the ticket gates, and whether they have
baby changing facilities. The Step-free Tube Guide
gives information about the step and gap
between the train and platform at step-free
stations and gives information about the
stations where you can change between lines
without encountering steps or escalators. This
guide will also help passengers with heavy
luggage or those with children’s buggies.
Whereas under the old system there were just
wheelchair symbols denoting step-free access
stations, the new guide has a number of
features to help passengers including:
■ Green, amber or red symbols on step free
access stations showing the height of the
step between the platform and the train,
coupled with a coloured ruler on the side
of the map so that people can visualise
how high the step is
■ Information about the width of the gap
between platform and train and there are
also different symbols to show stations
which are step-free when changing between
lines, but where it is not possible to get in or
out of the station without using stairs or an
escalator
■ Currently London Underground has 54
step-free stations and 25 per cent of stations
will be step-free by 2010. Other accessibility
information products that TfL produces
includes a Guide to Accessibility for all
London’s public transport, tube, buses,
Docklands light railway, London
overground,trams, London river boats,
Dial-a-ride, taxis and private hire; large
print and audio tube maps – these can
be ordered by calling 020 7222 1234, or
using the new online ordering form at
tfl.gov.uk/accessguides.
Overhaul of the
Blue Badge scheme
An overhaul of the Blue Badge scheme has
been announced by the Department for
Transport. The Blue Badge scheme provides a
range of parking concessions for people with
severe mobility problems who have difficulty
using public transport. The scheme operates
throughout the UK.
New proposals announced include extending
Blue Badge entitlement to:
■ children under the age of three with specific
medical conditions
■ people with the most severe mental
impairments/extremely disruptive
behavioural problems
■ specific individuals with temporary mobility
problems lasting a minimum of one year
A new system of assessing eligibility for the
Blue Badge is also being developed with the
aim to standardise assessments throughout the
country.
There are also new proposals concerning
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special needs continued
extending the scheme to injured active and
ex-service personnel, and additional efforts
to fight fraud and abuse of the Blue Badge
scheme.
www.dft.gov.uk/transportforyou/
access/bluebadge/
Patient engagement
takes off in Scotland
I would like to take this opportunity to
introduce myself as a new member of the
Genetic Interest Group (GIG), an alliance
of charities that support people affected by
genetic conditions. My name is Claire Cotterill
and I will be working as the Patient
Engagement Project Officer for Scotland.
What is Patient Engagement?
Patient engagement, also known as
patient/service user involvement, is simply a
commitment by organisations such as the NHS,
to talk to patients, listen to their views and use
this feedback to improve the NHS in general.
NHS Scotland is working towards the following
aims in patient engagement:
1. A service where people are respected,
treated as individuals and involved in their
own care.
2. A service where individuals, groups and
communities are involved in improving the
quality of care, in influencing priorities and
in planning services.
3. A service designed for and involving users.
These ideas are not new, but my post was
created by the Scottish Government, as part of
the Calman Review of Genetics in Relation to
Healthcare in Scotland, to breathe life into
these commitments.
How can you get involved?
■ The “virtual panel” of patient
representatives
The virtual panel is made up of individuals
who have agreed to being contacted by
email to share their experience and views
and also to provide feedback on health
issues when they arise.
■ The online forum
The forum will function as a hub for
discussion around a variety of issues that
impact on people living with genetic
conditions. It is also hoped that it will link
up people affected by the same or similar
genetic conditions across the UK, and
facilitate the sharing of useful information.
Why should you get involved?
This sort of project is designed to help
patients, families and carers to influence and
mould the kind of health service they use
and tell the Scottish Government what really
matters to them. Some of the work we could
do includes:
■ Creating better support networks locally
■ Organising meetings with researchers
to learn about developments in our
understanding of genetic conditions and/or
treatments
■ Lobbying the Government to improve our
experience of the NHS
■ Training health care professionals and writing
patient information to raise awareness and
improve the next generations experience
Scotland is unique in its vast rural geography
and for some communities, remoteness.
Getting involved can reduce the sense of
isolation that a lot of families with rare
conditions experience. GIG will provide
support and training to help you get the most
out of being involved and the experience
gained as a patient representative can be useful
experience for future jobs and career moves.
Please feel free to contact me by email
claire@gig.org.uk, phone 0131 651 4805 or
07508 503100, or write to me at GIG in
Scotland, University of Edinburgh,
Genomics Forum, St John’s Land,
Holyrood Road, Edinburgh EH8 8AQ.
Special Education News
The Special Educational Needs and Disability
Tribunal (SENDIST) is changing as part of
reforms to streamline the whole tribunal
system under the Tribunals, Courts and
Enforcement Act 1997. SENDIST is being
brought together with two other tribunals on
mental health and social care. Cases will now
be heard by the SEN and Disability Panel
(SENDISP) within the new Health, Education
and Social Care (HESC) Chamber of the
Tribunal. The First Tier Tribunal for Special
Educational Needs & Disability was set up by
the Education Act 1993. It considers parents’
appeals against the decisions of Local
Authorities (LA’s) about children’s special
educational needs if parents cannot reach
agreement with the LA. The Tribunal is
independent. The Lord Chancellor appoints the
Tribunal Judges, and the Secretary of State for
Education and Skills appoints the members. But
the Government cannot influence the tribunal’s
decision, and the tribunal has no connection
with any LA. From 3rd November the Special
Educational Needs and Disability Tribunal
ceased to exist as a stand-alone body and
became part of a new two-tier Tribunal
structure; the first-tier Tribunal and the upper
Tribunal. The two new Tribunals consist of
chambers that group together jurisdictions
dealing with similar work or requiring similar
skills. The existing judges and non-legal
members of the Special Educational Needs and
Disability Tribunal all transferred into the new
two-tier system and continue their vital work in
much the same way as they did before. Special
Educational Needs and Disability now sits in
the Health, Education and Social Care (HESC)
Chamber of the first-tier Tribunal. Appeals
against the panel’s decisions now go to the
www.rarechromo.org
upper Tribunal instead of to the High Court.
Parents whose children have special educational
needs can appeal to the first-tier Tribunal
(Special Educational Needs and Disability)
against decisions made by Local Education
Authorities in England about their children’s
education.
London
SENDIST
Procession House, 55 Ludgate Hill
London EC4M 7JW
Darlington
SENDIST
2nd Floor Old Hall, Mowden Hall
Staindrop Road DL3 9BG
Wales
Unit 32, Ddole Road, Enterprise Park
Llandridnod Wells, Powys LD1 6PF
London and Darlington
SEN helpline 0870 241 2555 9:00 to 17:00
Monday to Friday. Please use the helpline if
you need general advice about rights and
how to make an SEN appeal or a disability
discrimination claim.
Discrimination helpline 0870 606 5750.
Special Educational Needs Tribunal
for Wales
The SEN Tribunal for Wales is responsible for
hearing and deciding SEN appeals against LEAs
in Wales and disability discrimination claims
against responsible bodies in Wales. If you wish
to make an appeal or claim, please contact the
Tribunal. Helpline 01597 829 800.
The Scope Family Survey
2009 in association with
National Family Week
Help Scope to strengthen Britain’s
understanding of family life. Scope is
investigating the experiences of families with
disabled children in the UK. Scope believes that
every child has the right to participate in family
life. Without ongoing support and services for
families, disabled children will not fulfill their
potential. Scope recognises the important
contribution that disabled children and their
families make to British society. This year
Scope’s Disablism Audit Series is focusing
on the experiences of families with disabled
children. The results of the Scope Family Survey
2009 will be published during National Family
Week, which celebrates family life throughout
the UK, and will take place this year between
25–31 May 2009.
Take the survey now at
www.timetogetequal.org.uk/familysurvey.
If you would like to request a hard copy or
alternative format of the survey please contact
us atequality.campaign@scope.org.uk or call
020 7619 7370.
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special needs continued
Valuing people now –
New vision for people with
learning disabilities
People with learning disabilities will be
supported in every aspect of their lives, from
housing and health to employment, according
to Secretary of State for Health, Alan Johnson.
Valuing People Now – A Three Year Strategy for
People with Learning Disabilities presents a new
vision for improving services for people with
learning disabilities across health, housing,
employment and community care services. It
follows a comprehensive consultation involving
more than 10,000 people. Improving training,
commissioning of services and strengthening
local structures to meet the needs of people
with learning disabilities, are fundamental
elements of the Strategy. Key aims include:
■ ensuring people with learning disabilities get
the healthcare they need and the support
they want to live healthy lives;
■ supporting more people with learning
disabilities, including those with more
complex needs, into paid work;
■ ensuring people with learning disabilities
have the choice to have relationships,
become parents and continue to be parents;
and
■ giving people with learning disabilities
opportunities to study and enjoy leisure and
social activities.
Progress will be reviewed annually. A new
national Learning Disability Programme Board
and Regional Boards will ensure the strategy
works, share good practice and provide a
forum for stakeholder groups to discuss
progress and concerns.
What makes my family
stronger survey
Contact a Family wants to know what makes
families with disabled children stronger. They
want to hear from parents and other family
members caring for a disabled child about their
biggest priorities to strengthen their family
practically, socially and emotionally. They have
compiled an online survey to find out families'
current experience and to ask what they
would wish for if more help and support
were available
The results from Contact a Family's What
makes my family stronger survey will form new
research and will help them campaign for
better lives for all families with disabled
children. They will also use the findings to raise
awareness of life raising a disabled child. If you
are a parent or another family member caring
for a disabled child, please take the time to
complete their What makes my family stronger
survey.
www.cafamily.org.uk/surveys/
strongersurvey.html
Unique’s medically verified leaflets and texts for families
– freely available for these rare chromosome disorders from Unique’s website
(www.rarechromo.org)
1p36 deletions *Updated!
1q4 deletions *Updated!
1q duplications
Supernumerary ring chromosome 1
2p15p16.1 microdeletions
2q32 deletions & microdeletions
2q37 deletions *Update in progress
2q duplications
Ring 2
3p25 deletions
3q29 deletions & microdeletions
3q duplications
4p duplications
4q deletions between 4q11 & 4q22
4q deletions between 4q21 & 4q22
4q deletions between 4q21 & 4q31
4q deletions from 4q31 & beyond
4q duplications
5q22 deletions
6p deletions
6q deletions between 6q11 & 6q16
6q deletions between 6q15 & 6q23
6q deletions between 6q23 & 6q24
6q deletions from 6q25
6q deletions from 6q26 & 6q27
Duplications of 6p
7q duplications
7q11.23 microduplications
Proximal interstitial 7q deletions
7q36 deletions
8p duplications
Inverted duplication and deletion of 8p
8p23 deletions *Update in progress
8q duplications
Supernumerary ring 8
Trisomy 8 mosaicism
Trisomy 8 mosaicism in adolescents & adults
9p deletions (Alfi syndrome)
9p24 deletions
9q34.3 deletions *Updated!
Duplications of 9p
Ring 9
Trisomy 9 mosaicism
Tetrasomy 9p
10p deletions
10q26 deletions *Update in progress
11q terminal deletions (Jacobsen syndrome)
Duplications of 12p
Pallister-Killian syndrome and Mosaic
tetrasomy 12p
13q deletions including RB1
13q deletions various
13q distal interstitial deletions
13q deletions including the end of 13q
Ring 13
14q deletions between 14q22 & 14q32
14q deletions from 14q31 & 14q32.1
14q deletions from 14q32.2 & 14q32.3
14q deletions proximal to 14q22
Duplications of distal 14q
Uniparental disomy 14
Ring 14
Trisomy 14 mosaicism
15q deletions
15q13.3 microdeletions
Duplications of 15q
Isodicentric 15 *Update in progress
Ring 15
16p proximal deletions
16p13 deletions
16q deletions
Duplications of 16p
Duplications of proximal 16q
Trisomy 16 mosaicism
17p duplications *Update in progress
17q21.31 microdeletions *Updated!
18p deletions
18q proximal deletions
18q distal deletions
Ring 18
20p deletions
Duplications of 20p
Ring 20
21q deletions
Ring 21
22q13 deletions *Updated!
Ring 22
47,XYY
48,XYYY
48,XXYY
48,XXXY
49,XXXXY
Tetrasomy X
Pentasomy X
Triploidy
Diploidy triploidy
Robertsonian translocations
Small supernumerary marker chromosomes
In preparation
Proximal 1p deletions
2p deletions
Duplications of 2p
Duplications of 10q
Duplications of distal 16q
From our extensive library, Unique can also
provide families with copies of original papers
published in the medical literature. Please
contact Prisca (prisca@rarechromo.org)
or Sarah (sarah@rarechromo.org).
www.rarechromo.org
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who to contact
To make life easier for you we have
listed below the person best to
contact for our different services.
If we are not at our desks when you
call, please leave a message and we
will get back to you as soon as
possible.
You should contact BEVERLY if:
■ You haven’t yet received your initial letter from
Beverly or Satnam with information about your
child’s rare chromosome disorder and links to
other families (please allow up to 28 days from
first contact with Beverly).
■ You want up to date lists of relevant families on
the database who want contact.
■ You want information about a specific rare
chromosome disorder.
■ You have any queries about your database entry
■ You have been sent a database entry form and
you have any questions about it. (Please return
completed forms to Beverly).
■ You have any technical questions about medical or
genetic matters relating to your child’s disorder.
■ You would like any information on other matters
related to your child or yourself eg if you need an
address for other useful organisations.
■ Any queries relating to the Unique website.
■ You would like a piece included in the Unique
newsletter.
Beverly Searle – Chief Executive Officer
PO Box 2189, Caterham CR3 5GN, UK
Tel: +44 (0) 1883 330766
Email: Beverly@rarechromo.org
If you need to find out something and you can’t see it listed here,
please contact Beverly.
You should contact PRISCA if:
■ You would like any of our information leaflets on
specific rare chromosome disorders.
Prisca Middlemiss – Senior Information Officer
50 Heathfield Road, London W3 8EJ, UK
Tel: +44 (0) 20 8992 9933
Email: prisca@rarechromo.org
You should contact SATNAM
in Beverly’s absence:
Satnam Juttla – Information Officer
Tel: +44 (0) 203 114 5008
Email: satnam@rarechromo.org
You should contact SARAH
in Prisca’s absence:
Sarah Wynn – Information Officer
Tel: +44 (0) 203 211 1098
Email: sarah@rarechromo.org
You should contact JULIE if:
■ You would like to make a donation or need
information on how to run a fundraising event.
■ You would like to use the name Unique in any
literature.
■ You wish to send in fundraising monies and need
to ask questions or arrange a presentation.
■ You would like to serve on the Unique committee.
■ You know of a suitable organisation we can apply
to for funding.
■ You know a celebrity that can help us with
fundraising and awareness.
■ You would like copies of the annual
report/accounts or the 5 year strategy document.
■ You would like to run in the London marathon or
other similar event.
Julie Griffin – Finance and Fundraising Executive Officer
179 Bakers Ground, Stoke Gifford
Bristol BS34 8GE, UK
Tel: +44 (0) 117 979 8886
Email: julie@rarechromo.org
www.rarechromo.org
You should contact CRAIG if:
■ You have ideas or skills to help us to develop the
website or our presence on social networking
sites.
■ You think your employer may be able to help us
either financially or through gifts or other benefits
in kind.
■ You may be able to help us in some way
(however small) to raise awareness of Unique
through marketing, PR or the media.
■ You have any other skills which you feel may be
relevant as we develop Unique’s services and
capacity.
■ You have comments/suggestions about how the
group is run and the services offered.
Craig Mitchell – Operations Manager
Tel: +44 (0) 7753 566907
Email: craig@rarechromo.org
You should contact MARION if:
■ You haven’t yet received your welcome pack
(please allow up to 14 days from first contact
with Beverly).
■ You would like a copy of our Little Yellow Book or
Unique Tales (aimed at siblings).
■ You would like a back issue of the newsletter.
■ You would like to become a Local Contact for
your area or you have any questions about
becoming a local contact.
■ You would like a form for a sponsorship event.
■ You are already a Local Contact but you need
some more leaflets/posters, etc.
■ You would like any fundraising/publicity items,
eg balloons, leaflets, posters, etc.
■ You would like a Unique collection pyramid or
you have any questions related to the collection
pyramids.
■ You have any questions relating to the Unique
conference.
■ You have any questions regarding equipment
(wheelchairs, buggies, trikes, seating, etc).
■ You cannot get in touch with Beverly and your
enquiry is urgent eg if Beverly is on holiday.
Marion Mitchell – Family Support Officer
6 Lavant Close, Gossops Green
Crawley RH11 8LN, UK
Tel: +44 (0) 1293 525504 Skype: uniquemaz15
Email: marion@rarechromo.org
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