SOFT UK Magazine Autumn Winter 2012.pdf

Issue 43 

Autumn Winter 2012 Magazine 

SOFT UK Weekend May 5 - 6 

01213 513122 www.soft.org.uk enquiries@soft.org.uk

enquiries@soft.org.uk 

 

Already six months have passed and it is time for the next edition of the SOFT 

UK magazine. The last six months have been very busy for SOFT UK, with the 

very successful Family Weekend in May. We are continuing to evolve with 

further volunteer recruitment and the Development Day in June. 

Also, it has been a busy time for me personally, I recently returned after three 

months of volunteering and travelling, graduated from Bristol University and 

started work in my first job as a doctor. 

As always, it is your contributions that make the newsletter interesting to read. If 

you are a regular contributor, please continue to email me, and if you have never been in touch 

then please do so. Personal stories, updates, photos, useful information or fundraising and 

donation details are gratefully received and gladly included in the newsletter. 

I hope you enjoy this latest edition. If you have any suggestions for future editions, please get in 

touch and share your views. 

Best wishes 

DANIELA 

 

 

 

SOFT UK News 2 

SOFT UK Family Weekend May 2012 4 

SOFT UK in Scotland 9 

Resources for Families 11 

SOFT UK Children 14 

Pregnancy Blog 18 

Sadly Missed 24 

Fundraising 28 

Where to go for Help 30 

No part of this publication may be reproduced or transmitted in any form without the written permission of the copyright 

holder SOFT UK. Registered Charity: 1002918 (England and Wales) SC043341 (Scotland) 

Cover photograph by Jenny Robbins 

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SOFT tel. 01213 513122 • www.soft.org.uk 

 

 

 

SOFT UK held a a very successful Development Event on the 30 th June, to begin to develop a 

forward strategy for the charity. Trustees and volunteers gathered together to share ideas about 

the future of SOFT UK. 

Participants discussed all the main areas of SOFT’s work; providing support to families, 

newsletters, Family Events, the website and the links we have with professionals. The discussions 

benefitted from the experience of the many long-serving volunteers who attended. There were 

many new and innovative ideas for discussion. 

The top three priorities were identified as expanding SOFT’s work with professionals, 

consultation with the public and members about our work and promoting SOFT UK’s presence on 

internet search engines. 

The resulting strategy will seek to support the objective that all parents and families of babies 

and children with a diagnosis of Trisomy 13/18 will have access to SOFT UK support. 

 

 

The Board of Trustees 

would like to announce 

the appointment of 

Laura Petrie as a 

trustee. Laura has 

provided email and 

telephone support to 

families for two years, 

specialising in pre-natal support. Laura now runs 

the SOFT UK enquiry service, distributing new 

enquiries and providing support to the volunteers. 

She has a special interest in training and 

development and will be involved with developing 

the new training package for SOFT UK Support 

Volunteers. She is also a member of the Scottish 

Conference Committee. 

Laura lives in North East Scotland with her 

husband Charlie and children Faith, 9 and Blair 3. 

She is a full time carer for Faith, who has an 

Autistic Spectrum Disorder. Laura and Charlie 

lost their daughter Charlotte to Trisomy 18 at six 

months old and their daughter Jackie to 

hydrocephalus. 

 

 

SOFT UK are delighted to 

announce the 

appointment of our new 

Administrator, Kirsty 

Bassett. Kirsty will join 

the team at the beginning 

of November. 

Kirsty’s role will be to assist the Board of 

Trustees in effectively delivering the support we 

offer to families and all the ideas for development 

that come forward from members and 

volunteers. 

Kirsty grew up in New Zealand and lives with her 

husband Daniel and sons Oscar and Lucas in 

Gloucestershire. She has an extensive 

background in the voluntary sector, business 

management and fundraising and will be a great 

asset to the team. 

You can contact Kirsty from early November on 

administrator@soft.org.uk 

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Interested in what SOFT UK is doing? 

SOFT UK is a growing charity, that not only supports families 

but works closely with the NHS and other statutory and 

voluntary sector agencies to promote awareness of Trisomy 

13/18. 

If you are interested in finding out more about what we do, or interested in getting involved, 

we have created a new area of the website for SOFT UK development news. Here we will 

upload the minutes of Trustee meetings and advertise any development events we have 

planned. Feel free to email us if you have any of your own suggestions on how to improve 

SOFT UK! 

Information is available on the link below: 

 

 

Many people want to know how they can help SOFT UK. 

One of the ways you can help is to volunteer with us. Our 

volunteers are the lifeblood of the charity so SOFT UK is 

always recruiting willing people to help with our work 

SOFT UK has a variety of volunteering opportunities. 

Most of our volunteers are ordinary members who give a 

few hours per week or month, to fit in with their family or 

work commitments. You may have specific skills in something like administration, 

photography, writing or IT or you may simply be happy to shake a fundraising can or lend a 

hand at a SOFT event. 

We are also always keen to hear from parents who would like to train to provide support to 

other families. 

So whatever your skills and talents, there is a volunteering position for you. 

More information is available on our website 

 

or contact 

 

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SOFT UK Family Weekend May 5-6th 

John Capper was the Chairman of the Conference Committee for the SOFT 

UK Weekend 2012. To start the day he introduced himself and explained how 

SOFT has helped after the birth of his son, Jack David, who had trisomy 18. 

John then updated everyone on a few of the SOFT UK highlights of the past 

year: 

Professor John Carey, one of the world’s foremost medical experts in 

Trisomy, attended the May 2011 conference. 

The first SOFT Northern Ireland Family Day was held in August, with 

international representation from SOFT Italy and SOFT Ireland. 

Lily Orme, who has mosaic trisomy 18, starred in a short film on her local television station to 

publicise the grant Jeans for Genes gave SOFT UK. 

The first SOFT UK Volunteer Training Weekend was held in October 2011 

Professor Joan Morris and Dr Una Macfadyen spoke at the SOFT UK Scotland Family Day. 

William, who has trisomy 18, and his parents Lizzie and Mark, met David Cameron at Number 10. 

The Christmas Card fundraising event, fronted by Amy, who has trisomy 18, raised over £400. 

Saskia, who has Trisomy 18, celebrated her 20th birthday in February 2012. 

The Sibling Support booklet, written by Jenny Robbins and funded by Jeans for Genes, was printed 

in March 2012. 

Professor John Carey recorded a video and a 

talk, which was shown to families. He talked 

about recent survival studies, developmental 

achievement and the ethical aspects of care. 

Professor Carey talked 

about medical 

problems such as 

Wilms tumour and 

heart defects and 

discussed why surgical 

intervention is rare. 

He also talked about the Japanese research 

that had involved some of the families he met 

when he visited there. 

The video also included many photos of 

children with T13/18 with whom Dr Carey has 

worked over the years. 

Children’s Activities 

This year the Carnival Arts Group organised a 

variety of colourful crafts for over 20 children who 

attended the Family Weekend. 

The children made musical instruments, masks, 

animals, wings and all sorts of other things from 

willow and other materials. 

In the afternoon they 

gave a delightful 

performance to the 

main meeting and all 

went home with many 

of their prized 

artworks. 

In the evening the 

kids enjoyed a 

fantastic magic show 

SOFT UK would like to express their immense thanks to the Conference Committee who made 

the weekend so special for everyone involved. Many thanks also to our wonderful speakers 

for heartfelt presentations and valuable information. Thanks also go to all the providers - the 

Village Hotel Solihull, The Carnival Arts Group and Andy’s Magic. 

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Barb Farlow, from Canada, gave a moving talk about her experience with 

daughter Annie, who had Trisomy 13 and about the work she has been doing 

with other families affected by Trisomy. 

A moving article by Barb about Annie’s life is available on our website at 

 

 

 

Below is a summary of her most recent Trisomy related research. 

The Experience of Families With Children With Trisomy 13 and 18 in Social Networks 

AUTHORS: Annie Janvier, MD, PhD, Barbara Farlow, BEng, MBA, and Benjamin S. Wilfond, MD University of Montreal, Pediatrics and Clinical Ethics 

Sainte- Justine Hospital, Montreal, Canada; Patients for Patient Safety Canada, Mississauga, Ontario, Canada; and Treuman Katz Center for Pediatric 

Bioethics, Seattle Children’s Research Institute and Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 

WHAT’S KNOWN ON THIS SUBJECT: Trisomy 13 and 18 are conditions with 1-year survival rates of 

less than 10% and have traditionally been treated with palliative care. There are increasing reports of 

ethical dilemmas caused by parental requests for clinical interventions. 

WHAT THIS STUDY ADDS: Parents who belong to social networks report an enriching family 

experience and describe surviving children as happy. Many of these parents describe challenging 

encounters with health care providers. 

 

BACKGROUND: Children with trisomy 13 and trisomy 18 (T13-18) have low survival rates and 

survivors have significant disabilities. For these reasons, interventions are generally not 

recommended by providers. After a diagnosis, parents may turn to support groups for additional 

information. 

METHODS: We surveyed parents of children with T13-18 who belong to support groups to describe 

their experiences and perspectives. 

RESULTS: A total of 503 invitations to participate were sent and 332 questionnaires were completed 

(87% response rate based on site visits, 67% on invitations sent) by parents about 272 children. 

Parents reported being told that their child was incompatible with life (87%), would live a life of 

suffering (57%), would be a vegetable (50%), or would ruin their family (23%). They were also told by 

some providers that their child might have a short meaningful life (60%), however. Thirty percent of 

parents requested “full” intervention as a plan of treatment. Seventy- nine of these children with full 

T13-18 are still living, with a median age of 4 years. Half reported that taking care of a disabled child 

is/was harder than they expected. Despite their severe disabilities, 97% of parents described their 

child as a happy child. Parents reported these children enriched their family and their couple 

irrespective of the length of their lives. 

CONCLUSIONS: Parents who engage with parental support groups may discover an alternative 

positive description about children with T13-18. Disagreements about interventions may be the result 

of different interpretations between families and providers about the experiences of disabled children 

and their quality of life. 

KEY WORDS trisomy 13, trisomy 18, life-sustaining interventions, quality of life, parental opinions, ethics, end of life decision-making 

ABBREVIATION T13-18—trisomy 13 and trisomy 18 

FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose. 

FUNDING: This research was funded by a grant from Foundation Go. This foundation supports research for orphan hereditary diseases. 

PEDIATRICS Volume 130, Number 2, August 2012 293 

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We have an exciting new venue this year, the Glynhill Hotel and Leisure Club, 

Its ideally placed near to Glasgow Airport and has bus and rail links to Glasgow and Edinburgh. 

Confirmed speakers are Dr Una MacFadyen, Consultant Paediatrician and SOFT UK Adviser and 

Erica Brown, Vice-Chair of Acorns Hospices. We will also have family speakers as always. 

There will be a celebration time, remembrance activities and a special kids workshop this year. 

We have discounted room rates and there are optional evening social opportunities this year. 

For more details and the booking form, please look at the website or 

contact Liz Egan on or call the enquiries line on 

Financial assistance is available for SOFT UK members who would otherwise find it difficult to attend. For more 

information please contact Demi on 

Closing dates for booking are as follows: 

Saturday 6th October for creche places 

Friday 19th October for financial assistance 

Saturday 27th October for all other bookings. 

 

 

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SOFT UK in Scotland 

CEN Update 

The National Managed Clinical Network for Children with Exceptional Healthcare 

Needs annual conference was on 27th September. It was very well attended by 

professionals from the NHS and other statutory and voluntary agencies. 

The focus was “Early Support after Diagnosis”. The network have spent twelve 

months talking to parents and professionals about their experiences and have 

now published their research. Dr Una MacFadyen, one of SOFT UK’s advisers, 

spoke movingly about how to communicate a diagnosis to parents. 

The new publication “Early support and early expectations when your child 

has complex needs”. A number of SOFT families were involved in preparing 

this booklet. It will be used by professionals across Scotland to help parents 

come to terms with diagnosis and tell them where to go for support. As a partner 

agency, SOFT UK is featured in the booklet, and we will offer it to families in Scotland as part of our support to them. 

SOFT UK had an information stall at the conference, where we talked to many professionals and families about 

Trisomy and about the support we offer. 

More information is available from their website: www.cen.scot.nhs.uk 

Kindred is a voluntary organisation that works with parents, carers and young people in Edinburgh, Lothian & Fife 

Information 

We can provide information to you through our helpline, newsletter, website, or by meeting face-to-face in your home, 

our offices, or at the Sick Kid's Hospital. We can provide you with information on a range of issues, including: 

Your child's condition; 

Benefits/ funding; 

Additional Support for Learning; 

Statutory/ voluntary support services and much more... 

Emotional support 

Many parents/ carers just appreciate the chance to talk about how they are feeling when they call our helpline, or just 

want to talk through difficult decisions they need to make or difficult situations they find themselves facing. You don't 

need to have any reason at all to call us, you can call just to chat. 

Advocacy 

Kindred staff can provide support so that your views are heard. This might be in meetings, filling in forms, writing 

letters or speaking to professionals. 

You can contact Kindred on 0131 536 0583 or kindred.enquiries@gmail.com 

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Free help line: 0808 808 3555 

Email helpline@cafamily.org.uk 

The SEN National Advice Service 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Contact a Family has launched the only country-wide advice service 

for Special Educational Needs (SEN) – The SEN National Advice 

Service. 

This service will help families whose child may have special 

educational needs – we will be able to provide advice and 

information on any aspect of their child’s education. Help is 

available through our helpline 0808 808 3555, or post a query 

on Facebook or Twitter and a SEN adviser will get back to you. 

Alternatively drop us an email:helpline@cafamily.org.uk. 

What are special educational needs? 

A child has special educational needs if they have a disability or 

learning difficulty which makes it much harder for them to learn than 

other children of their age. 

I’m not sure if my child has a special educational need: can you 

still help me? 

Yes we can. Some children may need additional support with their 

learning, even if they do not have a disability or learning difficulty and 

some children may not yet be identified as having special educational 

needs. If you have concerns about your child’s education, or just 

need more information, please contact us. 

What can you give advice and information about? 

The SEN process - including: 

early years 

school Action and School Action Plus 

individual education plans (IEP’s) 

statutory assessment/ statements 

annual reviews 

transition planning and education after 16 

appeals 

Other general education issues as they affect children with SEN, 

which include: 

transport to school 

bullying 

exclusion 

medical needs in school 

attendance at school 

home education 

We also have general information and advice on the special 

educational needs process in this section. 

 

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The aim of Sand Rose is to provide 

free breaks to the bereaved, with 

particular emphasis on young families. 

We aim to help families adjust and 

become more able to cope with their 

loss. 

Based in Cornwall, Sand Rose, as a 

national charity, extends to all local 

authority areas in England and Wales 

providing breaks for families from 

across the country. 

We do not provide a therapeutic or 

counselling programme. We simply provide the venue for a break. Our project base in Marazion, Cornwall, 

provides a special location needed by those suffering loss and grief. Our three cottages with their sea views 

and large walled garden offer a unique place to help establish a new normal. 

OR 

 

Many families facing difficult times benefit from 

seeking professional support to work through their 

experiences and enable them to adjust to what is 

happening to 

them. 

The “Telling Stories” website from the NHS 

National Genetics Education and Development 

Centre is a resource developed to promote 

understanding among all health professionals of 

the impact genetics has on real life. 

The website draws on stories that cover a range 

of genetic conditions including single-gene 

disorders , chromosomal abnormalities and 

multifactorial conditions such as cancer and heart 

disease. 

The stories contained deal with all the emotional 

and practical aspects of living with a genetic 

condition, but also details the implications for 

healthcare practice by sharing the good and bad 

tales of the services they receive. 

The story of Noah Linster-Ali, who had Trisomy 

18, and his family is featured on the website on 

the link below. 

 

Whether this 

be a child’s 

diagnosis, 

ending a 

pregnancy, 

family 

challenges, or dealing with a bereavement, it can 

be helpful to have someone to talk it through with, 

who can offer positive strategies for managing 

feelings and moving forward. 

The Counselling Directory is an online resource, 

connecting families with qualified counsellors and 

therapists across the UK. Counselling Directory 

only lists counsellors and psychotherapists who 

are registered with a recognised professional 

body or those who have sent us copies of their 

qualifications and insurance cover. 

Their website also contains lots of useful articles 

on mental health issues and talking therapies. 

 

 

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The NHS Fetal Anomaly Screening Programme aims to set standards and oversee the implementation of 

a screening programme which conforms to an agreed level of quality for all pregnant women in England. 

The screen is for certain chromosomal and structural abnormalities in their unborn babies. 

The National Programme leads and supports the 9 regional antenatal screening teams of England and 

works in a collaborative manner with the 10 Strategic Health Authorities and the other 3 UK countries. 

SOFT UK has been part of this programme for some time and contributes to their work on screening for 

T13/18 in pregnancy. 

As part of their remit they have created this online resource, which contains information for both parents 

and professionals. 

 

 

When a pre-natal diagnosis is made, it is a good idea to think about what you would like to 

happen when your baby is born, to ensure that everyone fully understands your wishes prior to 

the delivery. Doing this in advance allows you to talk over 

the options with the medical professionals and your family. 

It also helps reduce the stress at the time of delivery and 

enables you to enjoy your time with your baby. 

Having struggled to find appropriate information on how to 

do this for a baby with a life-limiting diagnosis, one of our 

families has written an article about how they made their 

Birth Plan, to share with other families. 

Mum said: “I hope it could be useful to other families who 

decide to go ahead with their pregnancies. Our plan was written to reflect our son’s condition 

and his particular needs, so your baby may need quite different post-natal care. Hopefully the 

information in here might give you some ideas about things you can discuss with your maternity 

team to give your precious little one the best chance of surviving and coming home with you.” 

The full article and example Birth Plan are available on our website at: 

 

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An Update on Amy-Our Precious Little Fighter 

August 2012 

 

 

 

 

 

 

There is so much information on the internet etc 

about all the things a child with Edwards’ 

syndrome will never be able to do, it can be quite 

depressing. After all the reading we did about the 

condition we really didn’t expect Amy to be able to 

do very much, in fact, I think we kind of expected 

a pretty unresponsive baby who would never do 

any of the things “normal” babies learn to do (if 

she even survived the first few weeks). Therefore, 

I thought I would begin by telling you how much 

Amy do and the happiness she spreads 

wherever she goes. 

Amy took a few months before she first started to 

smile (four and a half to be precise!) then a few 

more weeks before she would smile in response to 

someone smiling at her. But she did it eventually, 

and now there is no stopping her! She will smile at 

anyone who smiles at her - not only familiar faces. 

She also spends a lot of time smiling at her 

‘imaginary’ friends (who only she can see but they 

keep her amused for hours!!). 

She shows if she is unhappy with something, 

usually by crying or being irritable. She has also 

found her voice more recently and spends a lot of 

time having shouting competitions with her 

daddy! 

As Amy has a weak suck, a slow swallow and gets 

pooling in her throat, feeding her orally has 

 

always been a bit of a go area! Because of this, 

no- 

Amy had a major gag reflex 

if anything was put in her 

mouth. We had to work on 

oral stimulation lots, by 

using various things, such 

as toothbrushes, dummies, 

fingers, textured tooth 

brushes etc, and gradually 

 

putting them a tiny bit 

further into her mouth. As 

you can imagine, we had lots of vomiting 

moments, when we let it go a little bit too far in 

but eventually, she decided she quite liked feeling 

things with her tongue and worked out how to 

suck her thumb! Now she spends ages sucking her 

thumb-and staring at it! This has helped to 

improve her gag reflex loads as she is giving 

herself oral stimulation without having to rely on 

us to remember to put something into her 

mouth!! 

We give her little tastes of food now too. She will 

only take a tiny amount at a time and it has to be 

off somebody’s finger, but she really enjoys trying 

different things. We waste a lot of baby food as 

she will only eat about two spoons full a day, but 

we gradually increase it a tiny bit at a time. Food 

she particularly likes are, strawberry cheesecake 

baby food, roast chicken dinner baby food, 

Farley’s rusks crushed and mixed with a little milk, 

sucking on jelly babies, chocolate, butter icing, 

jam...among other things! We don’t believe she 

will ever take enough food orally to maintain 

herself but it is nice to give her tastes as she 

obviously enjoys it. 

Amy learnt to roll onto her side in January-very 

exciting. It’s more of a flop onto her side than a 

roll but it works for Amy so we are happy with 

that!! 

She has a special little support system called a 

Squiggle mat, which is very handy for helping to 

support her in certain positions, including sitting. 

She also has a little table that fits in front of it, 

which is useful for doing different activities with 

her. Amy has also 

recently got a panda 

chair, which is a 

supportive chair on 

wheels that can be 

adjusted into all kinds 

of positions and 

heights. This is very 

handy as it allows us 

to do a lot more with 

her at a comfortable 

height! 

Amy’s vision didn’t 

seem particularly 

good at first, and we 

 

 

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wondered if she may even be blind, but it was like 

the muscles which control her eyes just needed a 

little more time to develop. She now focuses on 

things for ages and follows things with her eyes 

and turns her head, so she can definitely seewe’re 

just not sure how good her sight is. It is 

developing and getting stronger all the time 

though. She was prescribed some glasses just 

before her birthday in March. They have been 

shaped perfectly to fit her face and she doesn’t 

mind wearing them at all, which is good! She has 

also just been prescribed some tinted glasses as 

she is very sensitive to sunlight so we are looking 

forward to getting them so she can enjoy going 

outside a bit more often. 

happy these days, which is lovely, as it was so 

heart breaking to see her so upset all the time! 

Amy’s hearing tests eventually came back to say 

that her underlying hearing is fine but she has 

glue ear at the moment so what she can actually 

hear is a bit limited. It seems better than it was 

though, as she jumps when the dog barks now 

and turns her head when she hears a voice she 

recognises. 

Amy doesn’t like to be ignored, bless her!! We can 

be sat with her, chatting to her and as soon as we 

start talking to each other or watching the 

television and not her, she gets irritable until we 

start talking to her again!! 

We battled constipation with Amy for a long time. 

She was frequently in pain with her tummy and 

sometimes inconsolable. It was very distressing 

for her and us! We gave her laxatives, and 

occasionally suppositories for a while but they just 

seemed to make her tummy ache worse. 

Eventually, we tried a different medicine for it, 

which is much more natural and Amy has been 

like a different child ever since!! She is generally 

 

 

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We have been trying to encourage Amy to grip 

things more, as her grip isn’t very strong at the 

moment, but it is obviously getting better and she 

will hold small toys for short periods of time now. 

When Amy was born, her hands were clenched, 

with overlapping fingers. Her knuckle joints were 

very stiff and it was hard to open her hands. With 

lots of physio, her hands will now open almost 

right out, with just a slight bit of stiffness at the 

knuckles. She is so alert now, she will often look 

at something (especially a light up toy) and reach 

out to touch, and sometimes attempt to grab it. 

She likes to feel faces, especially daddy’s when he 

hasn’t had a shave, and she has just learnt to 

bash things-really hard when she gets going!!! 

Amy has a regular echo (about every 6 months) 

to keep an eye on the problems she has with her 

heart. Thankfully, so far they have been pretty 

good and the doctors aren’t too concerned about 

anything at the moment. We are so lucky to have 

such a wonderful, friendly hospital here in 

Barnstaple. After hearing many other stories 

about doctors giving up on babies with Edwards’ 

syndrome, or any life limiting condition for that 

matter, it makes us appreciate how great and 

understanding the professionals involved with 

Amy are! She is a celebrity on the children’s ward 

here - not many people don’t know who she is!!! 

Amy has cut her front bottom two teeth (one in 

March and one in May) and has just cut a front


top tooth (August). It looks like the one beside it 

will be here soon too!! Amy has been VERY 

dribbley lately, and at times we have had to give 

her medication to help dry up her secretions a 

little. I don’t like to give it too often so I just give 

it when she is struggling to cope with it all. 

Hopefully, the excess dribble is related to her 

teeth coming through and we are hoping it will get 

better once her teething has calmed down a bit! 

Amy was very poorly with a virus in June and 

spent almost the whole month in hospital. In true 

Amy style, she came bouncing back eventually. 

However, her breathing had got really bad-every 

time she fell asleep and relaxed, she couldn’t 

breathe. It sounded like there was obstruction in 

her upper airway-possibly due to her poor muscle 

tone inside. Our only option was to try a 

nasopharyngeal airway (basically an 8cm long 

tube inserted up her nostril to help support her 

airway and keep it open). This sounded quite 

extreme, but as she just couldn’t breathe without 

it, we decided to give it a try. Goodness me, I’m 

so glad we did! Her breathing when she sleeps is 

so much better now-she even gives us the 

occasional whole night’s sleep!!! We have to 

suction the tube regularly just to keep it clear but 

we make a game of it and she smiles her head off 

now as soon as she hears the suction go on!!! 

Amy had her gastrostomy placed in July (this 

 

 

year). She was so much better with anaesthetic 

this time and they said her throat appears better 

than it was in August last year when she had her 

hernia op. It’s nice to have the NG tube off her 

face, even though she still has the airway tube 

stuck there now! 

There is so much more I could say about Amy, 

like how happy she is and full of fun and how her 

smile forces everyone she meets to just fall in love 

with her instantly. She is an absolutely amazing 

little girl who is developing so well, just in her own 

time. I’m very proud of her and everything she 

has achieved so far, I get butterflies in my tummy 

thinking about it. I want the world to know about 

her and how, if it was not for her, we wouldn’t 

have met all the wonderful people we have met so 

far. 

I just want anyone who is expecting a baby with 

Edwards’ syndrome or has recently had a baby 

with the condition, to know that it is hard work 

but the most rewarding thing I have ever done. It 

is emotionally and mentally draining and 

sometimes you feel like you’re banging your head 

against a brick wall, but every minute of worry or 

uncertainty is worth it when she learns something 

new or smiles at you. Don’t believe everything you 

read about babies with the condition being 

“incompatible with life” or not being able to 

develop because Amy is living proof that there is 

so much fun to be had and so 

much to learn and new 

people to meet - it’s just 

amazing. Don’t get me 

wrong, I understand that she 

does have this condition and 

 

 

 

 

 

 

 

Katie is now 17 years old and she 

is well at the moment. Katie has 

returned from her fantastic 

holiday, and she was able to take 

part in rock climbing, discos, and 

canoeing, all the things that a 

teenager should do. 

 

Saskia has also returned from 

holiday and she is seen here 

supporting her favourite football 

team Chelsea. 

 

 

 

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SHE’S a little miracle. Rubi Saunderson, from 

Killamarsh, defied medical opinion to simply 

survive. She was born weighing just 5lbs 7oz and 

struggled to eat and breathe before doctors 

discovered a large piece of her diaphragm 

missing. Parts of her abdomen, including her 

stomach, intestines, liver and spleen had gone 

through the hole in her diaphragm and into her 

chest. Rubi had to have an operation to save her 

life and was then diagnosed with the rare genetic 

condition Trisomy 18, also known as mosaic 

Edward’s syndrome. It means she has an extra 

chromosome 18, instead of the usual two copies, 

in most cells in her body. 

Rubi – one of only six children in the country who 

suffer from the condition – is fed through a tube in 

her tummy. She has a poor immune system, 

which means she often gets ill from bugs or 

viruses. She doesn’t speak, mainly because of 

deafness in her left ear and partial hearing loss in 

her right ear and communicates through facial 

gestures, sounds and Makaton, a sign language 

specially created for very young children. 

Doctors told her parents Darryl, aged 46, and 

Julie, 39, she had a short life expectancy and 

would never be able to sit up or walk. She also 

 

17 

developed e-coli, got meningococcal septicaemia 

and at 13 months had another life saving 

operation, this time on her stomach. After doctors 

diagnosed Rubi’s condition they told the couple it 

was a miracle she was still alive. 

“Julie had a little cry at the news and I tried to 

take in what we had just been told,” says Darryl. 

“Our precious daughter, who had been through so 

much suffering already, was destined for a short 

life with no real guarantee of any level of quality. 

It was a very hard, very dark, very sad day.” 

But Rubi is now doing so well she is able to attend 

Killamarsh Infant School with brother Luke, nine. 

Darryl said: “Every day she makes us proud with 

her amazing advancements. She’s always smiling 

and is constantly happy. She’s wonderful and we 

feel blessed to have her.” 

Rubi, six, is helping to raise awareness of genetic 

disorders with the UK children’s charity Genetic 

Disorders UK by taking part in Jeans for Genes 

Day when people are invited to wear jeans to 

work or school on Friday, October 5, for a 

donation. 

www.jeansforgenesday.org for details


 

Our Pregnancy Blog– Edwards’ syndrome (t18) journey by Stacey and Joel 

On the 10 th February 2012 I found out I was 

pregnant with our 1 st baby, it was a bit of a shock 

as we weren’t planning on any children just yet, 

but once over the initial shock we were over the 

moon. We told our parents who were happy too. 

Everything was going quite smoothly until I lost 

my job, then I had a bleed so had to have an 

early scan and I took my mum as Joel was at 

work and couldn’t get time off. After this 

everything seemed to go quite smoothly again 

apart from all the morning sickness. 

On the 5 th March 2012, I had my first midwife 

appointment. Mum came with me as Joel was at 

work. At this time I was 8 weeks pregnant, going 

from the first day of my last period (08/01/2012). 

I discussed all the information to do with the 

pregnancy. I was booked in to see her again on 

the 22 nd march 2012. I was convinced that it was 

the 19 th march. 

On the 19 th March I went back to the doctors with 

dad to see Diane again, only 3 days early but she 

still saw me and did my blood tests. Dad found it 

funny that I was 3 days early and we were all 

laughing. 

Me and Joel went for our 12 week scan on 

12 th April 2012 We were apprehensive and I was 

scared and excited at the same time as I just 

wanted to see our baby and be told everything 

was ok. We had our scan but they didn’t give us 

the news we wanted to hear, they told us that our 

baby had abnormalities. They asked us if we 

wanted to see the scan while they explained it to 

us, we said yes, of course we wanted to see our 

baby. They told us that our baby had exomphalus 

and a cystic area in the lower abdomen possibly 

an enlarged bladder. They never printed us a scan 

picture, I don’t know why even though we had 

paid to get two, they just refunded our money. 

When the sonographer had left the room I rang 

my mum and asked her and dad to come down to 

the hospital to us, I wouldn’t let them discuss 

anything else with me until I had them with us. 

They sent us to prenatal diagnostics to discuss 

things like what caused it, why it was there, and 

they told us that it was possibly linked with a 

chromosomal abnormality and recommended that 

we had further tests to rule these out. They made 

an appointment for us in Oxford at John Radcliff 

Hospital for the 16 th April 2012. 

On the 16 th April 2012 I went to Oxford with mum 

and dad as Joel had started his new job and 

couldn’t have the time off as he had to do his 

training. Dad came in with me while they 

counselled me, and I told them I wanted to have 

the CVS done. Dad came with me as I wanted his 

hand to hold on to. They did the scan and my 

baby was laid on its belly, I wanted it to move but 

the furthest it moved was on to its head and baby 

was doing headstands, it just wouldn’t keep 

still. Dad was amazed by the whole scan and 

watched intently while they did the CVS; I sat and 

looked at the screen focusing on my baby trying 

to be positive. I was going to ask for a scan 

picture at this appointment but with the pain that 

I was in from the CVS, I forgot all about getting a 

scan picture. On my way home I remembered 

about it and my heart sank. They told me I would 

get the initial results back on the 19 th or 20 th April. 

On the 17 th April 2012, the hospital rang me to 

give me the results, they asked me if I wanted 

them over the phone, I told them it depends what 

they are, they hummed and harred and told me it 

was my decision. I was going to get Joel from the 

train station and go down to the hospital to get 

 

18


the results but couldn’t as they finished at 4.30pm 

and I knew Joel wouldn’t be back in time. I sat 

there and felt I had to have them, I couldn’t not 

know the results knowing that they had them 

back. They then said I’m sorry it’s not good news, 

your baby has got Edwards’ syndrome. 

I felt like my world had stopped, the hospital 

booked me an appointment for 18 th April 2012 to 

go and see them and discuss things once again. I 

rang my mum and told her, she got Joel from the 

train station and bought him home. I got Joel to 

come and sit with me, I just looked at him, told 

him I was sorry, I had the results back from the 

hospital and that our baby has got Edwards’ 

syndrome. I just broke down in tears in his arms, 

we had a chat, I told him I couldn’t go through 

with a termination as I wouldn’t be able to live 

with myself and that we would always have all the 

what ifs, how long would baby have lived, what 

would baby have looked like. I said to Joel that I 

felt like I had to give this baby a chance even 

though I knew it will die at some point, but I will 

just be grateful for that time with our baby and 

just to see our baby. 

We eventually went to bed after we had had a 

shower; we just lay there in each other’s arms 

and cried ourselves to sleep. It felt like our hearts 

had been broken in to a thousand pieces. I think it 

must have been about 11pm or midnight before 

we fell asleep. I woke up at 3am, laid in bed until 

4.30am and had to get up, I just couldn’t cope 

with laying there staring at the 4 walls in a dark 

room, it was driving me mad. So I got up, along 

with my laptop and mobile phone, I put the 

television on and lay on the sofa writing this. 

I believe I have to give our baby a chance as it 

has lived this far and only 5% of babies get this 

far so there is no way I feel I can bring myself to 

just give up on our baby now. I know when I go 

down the hospital they will try and push me 

towards a termination as they just see my baby as 

incompatible with life but just because they want 

me to give up I’m not doing it. Joel got up at 5.20 

am to get ready to go to work, he panicked 

because I wasn’t in bed when he woke up, he 

came down to see where I was, he looked at me 

and said what are you doing up at this time, I told 

him I couldn’t sleep so I had to get up. Joel then 

carried on getting ready for work, then came 

down and gave me a cuddle and a kiss, and told 

me he loved me and he would never stop loving 

me, he sent me back to bed at 6am and told me 

to try and get some sleep. 

I feel asleep at some point, I think I cried myself 

back to sleep and woke up at 8.20am, sitting in 

the house on my own I felt so alone, I got dressed 

and put one of Joel’s t-shirts on I then put his 

necklace on just so that I got some of him with 

me when I have to go to the hospital. 

On 18 th April 2012, I went to the hospital with 

mum and dad to speak to the specialist midwife 

about the results and what to do next. I was told 

that our baby definitely had Edwards’ syndrome, it 

was unlikely to be partial and its very unlikely that 

its mosaic either, but got told the only way to rule 

out a mosaic results is to have an amniocentesis 

done at 15 weeks or to have another CVS. They 

booked me in to see an obstetric consultant on 

24 th April to have another scan. 

I don’t care what they say I’m not going to give 

up on my baby, if nature takes it away from me or 

I miscarry then that is fine I can accept that 

easier but anything else I cannot accept, and I 

won’t do anything that I don’t want to do. The 

biggest question that I want answering is why but 

this is a question that no one can answer for me, 

all they say is it’s just one of those things, it’s bad 

luck and it’s not your fault. 

Our baby at 13 weeks and 6 days 

On the 24 th April 2012, we went to the hospital to 

meet the consultant. The consultant is lovely; he 

is a German man and is so down to earth. He did 

another scan and says all looks well, baby very 

active and likes doing headstands. He printed us 

off a picture so at last we finally have one to keep 

and treasure forever. He told us that we have a 

95% risk of losing our baby during the pregnancy, 

we have a 30% risk of a stillborn baby and that I 

also have an increased risk of developing 

preeclampsia but this is a risk that I am willing to 

take just to know that I have given our baby the 

best chance I can give it. We had a good chat with 

the consultant. They have said they won’t operate 

on our baby nor will they use a ventilator if our 

baby needs help with breathing, they say it’s all 

down to money but I believe they are just saying 

this as they class all babies with Edwards’ 

 

19


syndrome as incompatible with life. 

However we have been told that they will give our 

baby fluids, pain relief and that it will be palliative 

care. I spoke to to Mel again who is a big help to 

us at the moment as she lost a little boy to 

Edwards, so she has been able to talk to us and 

give us advice as well as put us in contact with 

other people who chose not to carry on with the 

pregnancy. Mel also put us in contact with Jenny 

Robbins of the SOFT charity and they are having a 

weekend conference on the 5 th and 6 th May 2012. 

If we go we will meet other people who are in the 

same situation or have been in the same situation 

as us so we believe that it will give us a better 

understanding and will do us good just to get 

away for the weekend too. The hospital rang me 

up with some more appointments, we have our 20 

week scan on 23 rd May 2012 and we will see the 

consultant again on the 22 nd June 2012. When we 

see the Consultant again in June we will get an 

appointment to see the paediatrician to discuss 

our baby and to ask any questions that we have. I 

see my midwife again on 2 nd May 2012. 

On 2 nd May 2012, I saw another midwife called 

Jacqui. She is a lovely lady, she said she admired 

me for what I am doing and carrying on giving my 

baby a chance. She asked me if I wanted to listen 

to baby even though it was early and she said she 

shouldn’t really listen in. She said that baby was 

very active and had a good strong regular 

heartbeat. She could feel baby kicking her hand 

while she was listening in so I knew I wasn’t 

feeling things and that I wasn’t imagining it. Came 

out from seeing the midwife on a high today, it 

was music to my ears to hear my baby. I will see 

the midwife again at 25 weeks. 

On 5 th May 2012, we drove to Birmingham for the 

SOFT weekend conference, met some lovely 

people, some very interesting talks on Edwards’ 

syndrome. 

We had a lovely lunch and then went and sat in 

the quiet room for a bit to gather some thoughts. 

Wow the quiet room was absolutely beautiful, 

feeling so emotional due to the unknown and the 

‘what ifs’ with our baby. Went to our hotel room 

for some time out and then back down to carry on 

meeting people and very special children. I knew 

the babies were small but I didn’t think they were 

as small as I have seen today; it has already 

opened up my eyes. Today has been a day of lots 

of presentations, lots of delicious food, plenty of 

drinks, a good swim and meeting some very 

inspiring children and adults. 

On 6 th may 2012 had a very good chat with Joel, it 

has opened up his eyes and changed his 

perspective on things, and it has also changed 

how he sees things and how he thinks. He is now 

able to understand my decisions and why I have 

made the choices that I have. Joel opened up this 

morning and said he spent some time last night 

with an amazing little boy called William, Today 

has been a day of relaxing, chatting and making 

things. We made a candle holder each, did a star 

and a rainbow, these are something special that 

we can keep and treasure forever. It was an 

amazing weekend and we will definitely be going 

again next year. 

 

 

Joel and me at 15 weeks and 4 days 

On the 10 th May 2012, I sent an email to a charity 

in America called Sustaining Grace to see if we 

can get a 4D scan done, and I also attached a 

copy of our diary so far. 

On the 14 th May 2012 I got an email back from 

Sustaining Grace saying yes they would pay for us 

to have a 4D scan. The email said “First of all, I 

want to let you know that Diane and I are 

20


saddened to hear of baby's diagnosis. We are, 

however, excited that you will soon be able see 

him or her alive and well and kicking around in 

your womb. We would love to make that possible 

for you and your family. Please call a non-medical 

ultrasound centres in your area and set up 

an appointment for a session that allows you a 

long time with your baby and provides you with a 

DVD. Once you've done that, please e-mail 

us and let us know the date and time of your 

appointment and we will take care of it. By us 

paying for the session it indirectly notifies them of 

your situation which sometimes helps your session 

go smoother and sometimes they can go a little 

longer for you if they aren't pressed for 

time. These facilities are set up so that you can 

bring family and friends and we encourage you to 

do so. This gives them a chance to fall in love 

with your baby too. The beauty of these 

appointments is that there isn't a doctor hovering 

around you telling you things that are going wrong 

or could possibly go wrong. It's just you guys 

with your baby and its all good news. We hope 

you enjoy your ultrasound and look forward to 

seeing your beautiful pictures. As a couple who 

has recently gone through the same thing that 

you are going through right now, we would like 

you to feel free to call or email us at any time with 

any question or if you just need someone in to 

listen or to pray with. Our phone numbers are 

below. God bless, Scott and Diane. 

On 23 rd may 2012 we had our 20 week scan, I 

was only 18 weeks. We got told that our little 

baby is a little boy; we are going to call him 

Angelo Jack Smith. We have been told that he has 

got cysts on his brain (choroid plexus), his head is 

an irregular shape but we already knew that, his 

stomach is in his chest cavity so he probably has a 

diaphragmatic hernia. Because his stomach is in 

his chest cavity it is pushing his heart to the right 

side of his chest. He has still got the omphacele 

but it does appear to be smaller Apart from that 

everything else appears to be well. We saw the 

specialist midwife Andrea again today, she 

explained everything to us in more detail, yes ok 

we have an increased risk of an IUD or a still birth 

but that I will accept even though it will break my 

heart if it is what nature wants to do. We will love 

our son no matter what as he is our flesh and 

blood. Yes we are scared, scared of the unknown 

but we know that our little boy is a fighter and he 

is our hero no matter what. We love you son. 

On the 28th May 2012 I decided to start doing a 

blog of our journey with our son, I had been 

writing a diary so I used everything from our 

diary. I will update it again when I find out when I 

have got my 4d scan and at my next appointment. 

May 29 th 2012, I am feeling so down and tearful 

today, don’t know why, cried over nothing, have 

had so many good days now just seem to be a 

downer, Angelo is wiggling around, he must know 

I’m down and upset and it’s his way of saying 

mummy cheer up, I’m still here and I love you.. 

May 31 st 2012 I have had emails back from 4 

different photographers saying yes they will come 

and do us photos of our baby after he is born, we 

are over the moon. To date we haven’t received 

an email back from Sustaining Grace as yet. 

Our baby at 18 weeks 

On the 5 th June I had an email from Sustaining 

Grace. ‘Yes, set up an appointment with See Your 

Baby and let me know when it is. Thanks, God 

bless, Scott and Diane Peterson’.’ 

On the 8 th June 2012 I had a day where I was 

feeling very down in the dumps, I couldn’t stop 

crying. Joel was there to pick me up again, he 

gave me a lovely cuddle and we sat and had a 

long chat about our son. All we both want is to get 

what is right for our son and not to be told that 

he’s incompatible with life, we want medical 

professionals to have more hope and faith. 

On 10 th June 2012, I looked at my blog and looked 

at the stats again today so far we have had 668 

views. We have had 569 in the UK, 72 in the US, 

6 in Australia, 5 in Canada, 4 in Gibraltar, 2 in 

Denmark, 2 in Ireland, 1 in Switzerland, 1 in 

Germany and 1 in Hungary. I can’t believe the 

comments that we have had and how many 

people have viewed it. By doing this I hope to 

raise awareness about Edwards’ syndrome and I 

want our journey to help other people. Only 12 

days until we see our son again and I can’t wait. 

On 18 th June 2006 I have been thinking about the 

 

21


girls who have sadly lost their babies and have 

now got angel babies. It has bought home reality 

to think that this may well be me at some point, I 

just hope and pray that my little man is strong 

enough to hold on and carry on fighting so that we 

can meet him and have a cuddle because that is 

all we want more than anything else in the world. 

We have been listening to his heartbeat at night 

before we go to sleep, some nights he is far too 

active to be able to hear his heartbeat and other 

nights you can hear it perfect. I treasure every 

little movement, turn and kick that I feel him do; I 

just wish he would do it a bit harder so that his 

daddy can feel him too. 

We only have another 4 days until we see our son 

again, we are hoping that the scan doesn’t show 

up any other problems than the ones that we 

already know about, but we just have to sit, wait 

and see. We are still thinking positive and taking 

each day as it comes, yes it’s not always easy but 

I believe that we have been given this special boy 

for a reason. 

 

1 st July 2012 we are now 23 weeks and 4 days, 

little man has been quite active today. Got 11 

days until I see the midwife again and 27 days 

until our 4d scan, can’t wait to see our special 

little boy again. Let’s see if Angelo Jack goes mad 

when I go to bed again tonight and if he wakes 

me up again in the morning, he’s a little monkey 

but I treasure every movement and kick that he 

gives me, every day is special to us as is every 

week and month that passes. Each week is 

another week closer to meeting our special boy 

and holding him in our arms. Angelo Jack we love 

you millions. 

11 th July 2012, have midwife tomorrow, went to 

dentist today, survived it even though I could feel 

my heart rate going up, Angelo Jack certainly 

sensed it as he was kicking away the whole time 

as if to say mum it’s ok calm down please. 

12 th July 2012, I have seen the midwife today, she 

measured my bump and its measuring 25 cms 

and I am 25 weeks and 1 day today. Heard little 

man’s heartbeat again today too, it was 145 beats 

per minute; he was a little monkey to let us listen 

to it. He was sleeping until my midwife Jacqui 

started prodding and poking him so he started to 

move around and play football with the Doppler, 

he kicked it off of my belly but it was so funny. I 

recorded his heartbeat on my phone so that I 

have got a recording of him. I have to have a 

glucose tolerance test on the 27 th July, oh the joys 

of being starved from 10pm the night before. I 

see the midwife the following week. We see the 

paediatric consultant tomorrow. I had a phone call 

from Great Ormond Street telling me to get a 

referral done to University College London 

Hospital and then they will refer me to Great 

Ormond Street to tell me if they will operate on 

him when Angelo is born, providing all is ok and 

he is alive. I’m not getting my hopes up as I don’t 

know what the outcome will be but I am trying my 

hardest to do everything that I can possibly do for 

my son. Angelo Jack is so active tonight, I have 

had a bath which has calmed him down a bit but I 

don’t know how long for. Only 17 days left until 

we have our 4d scan and see our son again, I 

can’t wait, I’m so excited, and I feel like a kid with 

a new toy. 

13 th July 2012, I have seen the paediatric 

consultant today. They have told us that they 

won’t ventilate or operate on our son but he can 

have oxygen. They think that he will probably be 

born sleeping but if he’s not then they think he 

will only live for minutes. They think that he will 

be born looking very blue and he will struggle to 

breathe due to his diaphragmatic hernia and his 

lungs not being developed properly. I wish that I 

could take it all away from my son and that it was 

me who had it. They have said that if he proves 

them wrong and lives for hours and is making an 

effort to breathe then they will put a feeding tube 

in place, and will give him oxygen and pain relief. 

They won’t take him away from us and put him on 

his own. We will have a private room at the back 

of the labour ward away from everyone else. I 

know whatever happens nobody can take away 

the fact that me and Joel and I will be his mum 

and dad. I have got some more reading and 

research today but I know with his problems his 

chances are slim but I just have to hang on to 

hope and faith. I know deep down that we will 

probably lose our son but he will always remain in 

our hearts. 

28 th July 2012, well today is finally the day for our 

4D scan, can’t wait to see our son again, we are 

so excited. It was amazing to see our son in 4d, 

he looks like his daddy but my parents can see me 

in him too. Half way through the scan Angelo Jack 

 

 

22


had decided that he had had enough, he kept 

putting his hands up to his face to hide his face 

and then he turned his back to us, he’s so 

stubborn and cheeky. 

I went for another walk for about half hour and 

had a chocolate bar and bottle of fizzy cold 

lucozade. When we got back he had moved and 

decided to play ball again, he gave us some 

beautiful pictures. 

The lady that did our 4d scan was amazing, she 

was very patient and took her time, she couldn’t 

see an omphalecele like the doctors said he had 

got, she could however see a cyst in the cord 

close to the abdominal wall so hopefully she is 

right, when I see my consultant I will be 

challenging him. Angelo Jack’s estimated weight is 

2lbs 2 ozs so he’s not as small as doctors have 

made out, hopefully he will be about 4 and a half 

pounds when he’s born. 

29 th July 2012, yesterdays experience had made 

me think about helping others. It has inspired me 

to set up my own charity in order to help other 

mummy’s and daddy’s with trisomy babies. 

Without somebody telling me and putting me in 

contact about the charity that helped us then we 

wouldn’t have known about them and we wouldn’t 

have been able to have our 4d scan done. I have 

looked around in the UK and cannot see any 

charity that does the same thing or similar to 

what the charity in America does. This will be a 

long term goal that I set myself to do. 

 

2 nd August 2012, midwife sent me down the 

hospital to be monitored as Angelo Jack had 

reduced movements yesterday and today. I went 

down to the hospital at 3pm and came out at 

about 8.30 pm, over 5 hours of boredom, I sat 

around for the first 2 hours waiting to be seen, I 

was eventually called and put on to a CTG 

machine to monitor Angelo Jack’s heartbeat and 

movements, my son made me out to be a liar 

because as soon as I was put on the machine he 

started moving and going mad, I definitely have 

one cheeky boy in my belly who like to keep me 

on my toes and give me a scare. 

4 th August 2012, Angelo Jack has been quite 

active again today; We are now 28 weeks and 3 

days, he’s still proving the doctors wrong, he is 

out little fighter and a miracle baby. Carry on 

fighting Angelo Jack; mummy and daddy love you 

so much. 

16 th August 2012, we are now 30 weeks and 1 day 

in the pregnancy. I saw the midwife today, bump 

is still growing, it was measuring 29 centimetres 

today, heart rate was nice and regular, Angelo is 

still lying transverse, and he’s been like that since 

27 weeks so he must be comfy. The glucose test 

that I had done came back normal; iron levels 

came back fine at 12.2, blood group is O positive 

and has no antibodies either. I also see a new 

consultant at another hospital next week too, it 

seems like they have so much more hope and 

from speaking to them they are willing to give our 

son a chance as I know I will not give up without 

a fight and neither will our son. Angelo has been 

quite active today, he kicked the midwife when 

she was listening to his heartbeat and prodding 

my belly to get a measurement. 

Angelo the only thing that I wish for is that you 

would stop making yourself comfy on my sciatic 

nerve, it’s so painful for mummy and all daddy 

can do is call me and old lady and laugh as I keep 

grabbing on to things to walk around the house 

and limp. I have such a strong little boy who likes 

to be cheeky and I know he won’t give up without 

a fight either. Angelo’s nanny and pappy came 

back from Norway and bought him back a little 

moose teddy; they bought us back a beautiful 

angel. 

18 th August 2012 we are now 30 weeks and 3 

days in to the pregnancy, it seems like it’s going 

so quickly. I am getting scared now as Angelo’s 

due date is getting closer and closer, I know he’s 

a little fighter but I want him to stay in my belly 

forever, I want him to stay there as I know he’s 

ok in there. I feel him move everyday and listen 

to his heartbeat daily, this is a feeling that I never 

want to lose. I suppose it’s the fear of the 

unknown as we take each day as it comes 

because we don’t know what will happen from day 

to day. I know while he is in me he’s growing, he 

has a good heartbeat and he’s safe, I believe it’s 

the safest place for him. Angelo Jack carry on 

fighting, mummy and daddy love you so much. 

20 th August 2012, we are now 30 weeks and 5 

days in to the pregnancy. Today is our 1 st Wedding 

Anniversary, I have been looking back thinking of 

our special day, yes we have had many challenges 

in our 1 st year of marriage but it makes us 

stronger as a couple, we have overcome the 

challenges and this is the first year of many. Only 

3 more days until I go to Milton Keynes hospital 

and see a new consultant who is willing to give 

our son the best possible chance at life, I’m so 

excited as I will be having another scan as well so 

I will get to see our beautiful son again. So 

excited for the weekend too as we are going away 

for the weekend to meet Liam's Mummy and 

Daddy, really looking forward to it. 

22 nd August 2012, we are now 31 weeks exactly. 

TO BE CONTINUED. 

23


 

 

by Elizabeth and Emmanuel 

John was born on the 12th of June 2010, the third 

of three children. We were experienced parents 

expecting our third baby, but things didn't quite 

go according to plan and expectations. The 

pregnancy was very difficult as we were being 

constantly told everything was wrong with the 

baby and we should try terminate the pregnancy 

but the doctors could not give us a definite 

diagnosis or put a name to what was wrong. 

We did not wish to have a termination and were 

told at one point by a doctor that we were 

being unreasonable, in denial, and avoiding the 

truth as the baby was not expected to live for 

even one day. 

We kept strong and decided to keep the 

pregnancy. John was born on the 12th of June 

2010, he was blue and not crying, his heart was 

given a little massage, and he then responded 

with a very weak cry. 

As soon as John was born I noticed his extra 

finger and club foot, and then when he cried 

weakly I said, 

'There is something not right with my baby'’. 

His dad immediately dismissed my comment and 

replied, 

'He will be fine'. 

John was immediately taken away to NICU. A 

doctor came to update us and gave his first 

opinion. We were then told that John was very 

poorly and may not make it through the night, he 

might not be able to open his bowel or do a wee, 

 

and he may not be able to feed orally. A lot of 

other impossibilities were predicted, but a name 

was still not put to what was wrong. 

After 3 days, we were told that John had trisomy 

13 (Patau’s syndrome). We had no idea what it 

was and were shocked. The doctor simply 

explained, 

'Children with Patau’s syndrome do not live long, 

80% will not reach their first birthday, and it is 

complications from their brain and their heart that 

eventually overwhelm them. 

We had a scare seven days after John was born. 

We were told to bless him that night, as they 

didn't expect him to make it through the night. 

We blessed him in sadness but to our utmost 

surprise, he made it and started to improve. 

John was discharged to a Hospice (Haven House 

Children Hospice) as he was still not expected to 

live long, and the staff at the Hospice were 

fantastic, very caring and empathetic. We even 

managed to get the NG tube out and started to 

feed him orally, and this was a massive 

achievement for us all. 

John thrived against all the odds, He was a cheeky 

little chap, who spent wonderful twenty-on 

months with us. John was not on any medication, 

and hospital appointments were only to monitor 

his progress. 

He was a little boss, who knew what he wanted 

and always got his own way. We were told he 

 

 

24


would be a vegetable but he even played with his 

siblings. He would burp in their faces and when they said yuck!, 

he would smile. 

He smiled, he moaned about things he didn't like, he ate 

everything and anything we gave him (orally), he kicked off 

when he didn't want to go bed, he spat water out because it 

wasn't sweet, HE WAS A LITTLE STRONG CHARACTER! We all 

love and miss him so much 

We are lucky, despite a very negative prognosis, we were able to 

enjoy an amazing twenty-one months together, some of which 

make us laugh even though it was painful losing John. 

. 

18.07.09 

Right from the start I always felt something was 

not right about our second pregnancy. The many 

faint barely readable pregnancy tests, not feeling 

much movement, a very small bump and more 

importantly just a strong motherly instinct telling 

me all was not well. So when we had our 20 week 

scan at 21 weeks and were told we were 

expecting a baby girl and all was well, I was 

shocked as I still felt something was wrong. 

We were asked to return a week later for another 

scan as they were unable to see our baby's heart 

properly but we were reassured that everything 

was fine. The sonographer gave us a scan picture 

of our baby girl which only made us worry more 

as our baby' s body didn't look 'normal' to us and 

to this day I wish I'd spoken up about our 

concerns, however we had put our trust in the 

professionals who constantly reassured us that 

everything was fine. 

A week later at 22 weeks we attended for our next 

scan, the sonographer scanned us for less than a 

couple of minutes before turning the machine off 

and telling us there was a problem with our baby. 

We were told our baby's stomach was in her chest 

due to a diaphragmatic hernia and that we should 

attend the local hospital straight away, So with no 

 

 

information about our baby's condition or what 

was going to happen once we got to the hospital 

away we went. 

Once at the hospital we were put into a side room 

and waited for what felt like forever to be told we 

had an appointment at the fetal medicine unit but 

it was on Monday which was 4 days away, so with 

no information again about our baby or what 

would happen at fetal medicine we were told to go 

home and put our feet up. 

The wait was agonising but eventually we got to 

fetal medicine, we were scanned by so many 

different professionals that day all trying to find a 

way to help our little girl. Faith Ann was diagnosed 

with full Edwards’ syndrome but with massive 

health implications. Her liver, stomach and bowel 

were in her chest due to the hernia, her lungs 

weren't developing however the main issue was 

Faith’s heart. Faiths heart only had 2 chambers 

and only one was working. After being scanned by 

a leading baby heart specialist we were told there 

would be no way of fixing Faith’s heart we were 

devastated. The consultants and midwives at fetal 

medicine were so supportive. 

We were told our baby wouldn't survive the 

pregnancy and then came that sentence that I'll 

never forget, our baby was 'not compatible with 

life'. My partner and I then went on to make the 

most heart breaking decision of our lives and 

choose to let our little girl go. Faith Ann died on 

the 15th July 2009 at 23 weeks. We were told to 

attend our local hospital 3 days later to give birth 

so yet again with no information about what would 

happen next or things we would need to take into 

hospital we went home and waited. 

Faith was born July 18th weighing 1lb1oz. She 

was beautiful. I feel very strongly about how in 

this era of modern medicine and high standards of 

care that we still force mothers to give birth to 

their children in our situation on a full maternity 

 

25


ward where we had no choice but to listen to 

other mothers giving birth, hearing their babies 

cry and listening to excited family members 

visiting their new babies. 

We were shocked at how unprepared we were. We 

didn't have any clothes for Faith with us or even a 

camera. These were things we hadn't even 

thought about our minds were just so focused on 

our tragedy. 

We were unaware that our baby would not receive 

a birth certificate. We were shocked when asked 

about post-mortem or the fact that we would have 

to make funeral decisions there and then. The 

care we received in both hospitals was excellent 

but the lack of information was just 

overwhelming. 

We had no idea SOFT even existed until 

approximately 6 months after losing Faith. I found 

SOFT via the internet whilst looking for my own 

support as we weren't offered any constructive 

counselling at the time we needed it most. 

After seeing the information and support SOFT 

provide I really wish we had been aware of their 

existence earlier then maybe we could have been 

able to make more informative decisions 

regarding our little girl. 

I am a registered learning disabilities nurse and 

have cared for disabled children for the past 10 

years,. We would have given anything to have our 

daughter here with us today. The guilt I feel has 

never left me, although through telling Faith's 

story I'm hoping others will understand how 

important information is and how in our case a 

lack of information can cause a lot of heart ache 

and regret. 

Since losing Faith I have been making 

remembrance items such as bag charms and key 

rings for anyone who has lost a child, and thanks 

to ebay and mission fish. 

I have been able to donate money from these 

items to SOFT. I really hope this helps SOFT to 

continue giving their much needed help and 

support to families. 

. 

 

 

 

 

 

Developments in antenatal screening mean that many 

chromosomal problems are diagnosed before birth, and it is 

now NHS policy for health professionals to counsel women 

so they can make an informed decision whether or not to 

undergo screening. 

 

 

Your Unborn Baby explores choices after a prenatal 

diagnosis and is available on the SOFT UK website. 

26


 

Thank you! 

Nearly 20 years ago, I was driving on the M25 when 

I received a phone call from Kings College Hospital, 

advising me to go to my local maternity hospital 

urgently. This contact came 3 weeks after an 

anomaly scan and amniocentesis there. Two hours 

drive away from home I pressed the hapless NHS 

worker for information and insisted that I was told 

there and then. An embarrassed doctor later 

confirmed the trisomy 18 diagnosis and showed me 

some old textbook pictures of mal-formed babies. 

On occasion the NHS can work with ruthless 

efficiency and in a genuine effort to alleviate my 

distress about being told a longed for child was 

incompatible with life, arrangements were made for 

me to return the very next morning to ‘have the 

problem dealt with’. 

In shock and panic, I had no idea at all what 

Edwards’ syndrome was and just registered the 

words ‘genetic abnormality’, I contacted the Down’s 

Association. They promptly gave me a number for 

SOFT and on that dark, December afternoon 

Christine Rose answered the phone. She explained 

the facts and sent some literature. SOFT and ARC 

(then SATFA) helped to fill a massive void in NHS 

provision and my own lack of understanding. If 

anyone can remember, these were pre-internet 

times, long before a search engine could open up a 

wealth of information, awe, and sometimes terrified 

realisation into our lives, at the click of a mouse. 

1992 was a disastrous year, having weathered an 

ectopic pregnancy in February only to lose Leah in 

December. So mired in my own misery, I did not 

appreciate how newly formed SOFT was, nor the 

sheer courage and resilience of Jenny Robbins and 

Christine Rose in answering their own tragedies with 

Beth and Jonathan, so positively. They created an 

organisation that has given knowledge, comfort 

and companionship to so many families: a very 

fitting tribute to their own children and I thank them 

both for their vision and determination. 

While Chris’ work continues, the last Newsletter 

announced the stepping down of both Jenny and 

Rachel Attwell. Living on the south coast, an hour’s 

drive from Rachel, she became my primary contact 

with SOFT. Again, long preoccupied with my own 

loss I did not really take on board how recent and 

raw her own experience with Bethany had been. 

Throughout the ensuing two decades, Rachel has 

provided a listening ear, calm rationale and safe 

haven for all those who needed her help. 

As a busy teaching assistant, school governor and 

mother of four, Rachel’s own life is hectic and 

pressurised. Yet she has always made time to host 

meetings, patiently counsel and show empathy with 

the many different types of experience of SOFT 

parents. Rachel has provided a constancy of 

support in my own life and particularly leading up to 

the birth of a fine son after a scan revealed a cleft 

lip and awakened all the fears of a trisomy 

recurrence. 

Rachel and SOFT were there for me at the 

immediate crisis but even more crucially, 

throughout all the years afterwards when the 

painful memories and misgivings can still crowd in. 

To some extent I think they always will but Rachel 

steered me on a course where I could at least 

function again and try to be the best mother I could 

be to my son. Rachel has carried out an exemplary 

role for SOFT that must have been emotionally 

draining. She deserves the heartfelt thanks of so 

many of us whom she encouraged to move from 

isolation and mourning toward a chink of light. 

So the sincerest thank you to Rachel, Jenny and 

Christine and all those who gave their time and 

enthusiasm to found SOFT. Extraordinary people 

who have truly made such a difference to so many 

parents’ lives. 

Julie Mercer 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

27


 

 

SOFT Treasurer 

Jim Fergus 

Jay Tomkins has been 

fundraising for SOFT UK 

in memory of his nephew 

Oliver and has already 

raised £150. 

accounts@soft.org.uk 

29 Grange Hill Road 

Birmingham B38 8RE 

 

Photographs are of 

Jason on the Manchester 

to Blackpool Bike Ride 

(right) and the Tour of 

the Peaks ride (left). 

 

Emma Cooper raised £211.40 from a 

coffee morning she held at funeral 

home and £197 from a non uniform 

day at her children’s school in memory 

of her son. 

The Community Mental Health Team Shan Charnock 

works with raised £55 in lieu of sending Christmas 

Cards and they have also sold books. 

Jane Preston, a nurse, ran her first half marathon 

and raised £155. 

Jim and Ewan are trekking the coastline of the inhabited Shetland Isles in a massive year long 

fundraiser in memory of Kate Lynne Van Tonder. They are going to Trek around 887 miles of 

Shetlands stunning and often inhospitable coastline this summer, and so far they have raised 

£3,235 which will be split equally between The Archie Foundation, SOFT UK and The Fire Fighters 

Charity. 

‘We are going to Trek around 113 miles of coastline of 7 of the smaller islands on 7 various days in 

May & June and will start the main part of the trek on 24th June. We shall cover the remaining 774 

miles over the following 31 days, meaning we will have to walk an average of 25miles per day.’ 

Fundraising News 

Please accept the apologies of SOFT UK 

if your donation or fundraising has not 

been included in this issue. 

Send details of any fundraising news to 

newsletter@soft.org.uk for the Spring 

2013 newsletter and thank you to 

everybody who has donated or 

fundraised for SOFT UK. 

 

SOFT UK relies entirely on fundraising and donations. 

We can help find an event for you, set up fundraising 

web pages, provide t-shirts, leaflets, pin badges, etc, 

send information for grant or match funding 

applications, register with donating companies, and 

publicise events. 

Please get in touch through the SOFT UK website 

contact box if you would like some help or have a great 

fundraising idea or would like to volunteer. 

 

Phil Proctor raised £1,193 

for SOFT UK and Bliss by 

cycling from London to Paris 

over a weekend in June. 

Steve Close ran the Sheffield Half 

Marathon on 27th May 2012, and 

Vicky Aston ran the Greater 

Manchester Marathon on the 29th 

April 2012 for SOFT UK. 

Carole and Mike Bull, the 

carers of Katie who has 

trisomy 13, have kindly 

donated £30. 

 

28


Javier Castillo proudly wearing 

his SOFT T-shirt, 

‘Hopefully it helped to raise the 

profile of Soft a tiny bit, and a 

contribution has been made 

through the SOFT Virgin Money 

Giving fundraising page. 

 

 

 

Toby Robert 3.1.06-7.1.06 (photo on left) 

Robert Smith ran his first ever marathon on the 27 th May 

and raised £1,336 for SOFT UK in memory of his son Toby 

Robert Smith who had trisomy 13 and was with his family 

for 83 hours and 54 minutes. ‘Toby was so beautiful and 

brave and has been an inspiration to us all. Our lives were 

devastated by Toby’s death, however we are so proud our 

amazing son. He is very much part of our family. Toby is my 

inspiration to run. Toby was one of only 28 live births of 

trisomy 13 in 2006. 

Lee Lloyd ran the London 

Marathon 2012 and raised 

£700. for SOFT UK and Combat 

Stress who specialise in the care 

of British Veterans who have 

been profoundly traumatised by 

harrowing experiences during 

their Service Career. 

Lots of information about fun ways to raise money, legal 

regulations that may apply, and advice are on the 

fundraising pages of the SOFT UK website. 

Before planning an event, check if you need to be covered by 

insurance and ensure you are complying with the SOFT UK 

fundraising guidelines and local or national legal requirements. 

The guidelines can be posted to you and are available on the 

Fundraising page of the www.soft.org.uk 

 

Please make direct credits payable to: 

SOFT UK, a/c 21125613 

HSBC Ross on Wye Branch, sort code 40 39 06 

32 Gloucester Road, Ross on Wye HR9 5LF 

 

 

 

29


 

 

Telephones will be answered by a recorded message. Please leave your name number and 

query and we will always return your call. If we do not reply to an email within 24 hours, 

please re-send the information in case we did not receive it. If you wish to receive newsletters 

or if you would like a star on the remembrance page of the website, please contact SOFT 

through the website. 

 

Website 

www.soft.org.uk 

Email 


Telephone 

Contact your SOFT UK representative: 07923 056 132 

 

Jan Fowler 

Jim Fergus 

Christine Rose 

Dr Daniela Robbins 

Demi Powell 

Laura Petrie 

Chair 

Treasurer 

 

Northern Ireland Annamarie Cartmill or Lisa Duggan 

Scotland Liz Egan 

Professionals Shan Charnock 

 

Consultant Clinical Geneticist based at City Hospital, Nottingham 

with a special interest in Edwards' and Patau's syndromes. 

Consultant Paediatrician and Neonatologist. Her research includes 

apnoea, and feeding disorders including reflux. 

Consultant Obstetrician, Subspecialist in Fetal Medicine, and the midwives 

of the Fetal Care Unit, Nottingham University Hospitals, City Campus. 

Research Director NDSCR Centre for Environmental and 

Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London 

School of Medicine and Dentistry, Queen Mary University of London. 

Vice President of Acorns Children’s Hospices in the West Midlands, and has 

lectured and published nationally and internationally in the field of special education, 

spiritual and religious care, palliative care and bereavement. 

30


 

 

Telephones will be answered by a recorded message. Please leave your name number and 

query and we will always return your call. If we do not reply to an email within 24 hours, 

please re-send the information in case we did not receive it. If you wish to receive newsletters 

or if you would like a star on the remembrance page of the website, please contact SOFT 

through the website. 

 

Website 

www.soft.org.uk 

Email 


Telephone 

Contact your SOFT UK representative: 07923 056 132 

 

Jan Fowler 

Jim Fergus 

Christine Rose 

Dr Daniela Robbins 

Demi Powell 

Laura Petrie 

Chair 

Treasurer 

 

Northern Ireland Annamarie Cartmill or Lisa Duggan 

Scotland Liz Egan 

Professionals Shan Charnock 

 

Consultant Clinical Geneticist based at City Hospital, Nottingham 

with a special interest in Edwards' and Patau's syndromes. 

Consultant Paediatrician and Neonatologist. Her research includes 

apnoea, and feeding disorders including reflux. 

Consultant Obstetrician, Subspecialist in Fetal Medicine, and the midwives 

of the Fetal Care Unit, Nottingham University Hospitals, City Campus. 

Research Director NDSCR Centre for Environmental and 

Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London 

School of Medicine and Dentistry, Queen Mary University of London. 

Vice President of Acorns Children’s Hospices in the West Midlands, and has 

lectured and published nationally and internationally in the field of special education, 

spiritual and religious care, palliative care and bereavement. 

30

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