Nurses Day! - Birmingham Children's Hospital

At Birmingham Children’s Hospital we also carry
out world-leading research and treatment for
children with rare diseases which affect less than
one in 100,000 children. Although rare diseases
can affect many different parts of the body, the
one thing that is common is that they all require
care and treatment from several different specialist
areas and if unrecognised they can lead to severe
disabilities.
We are the second largest provider of nationally
commissioned rare diseases services in the UK
with 11, and because of our expertise we aspire to
become a National Rare Diseases Centre and will
be working towards this over the next year.
In March 2013, we became the first centre in the
UK to use a novel new treatment for children with
a rare and life-threatening liver disease - Crigler
Najjar Syndrome. The trial aims to replace the
diseased liver cells by restoring normal function
with the infusions of liver stem cells. The hope is
that these healthy stem cells will ‘seed’ into the
liver and correct the faulty metabolism that children
with this disease suffer with. One patient so far has
had this treatment with more lined up. Results from
this trial should become available within the next
two years.
In July 2012 we were selected as one of four
centres to join a new year-long pilot study for
the Department of Health’s National Newborn
Screening Programme to test for some additional
rare diseases.
Currently, all babies are tested at birth for five
conditions through the ‘heel prick test’. As part of
the pilot, newborns are being tested for five more
to look at outcomes and whether they should
be permanently added to the national screening
programme.
The pilot is going well and to date we have picked
up two cases at Birmingham Children’s Hospital –
one mild isovaleric aciduria and one maple syrup
urine disease – which is a great result as it means
that we can now treat the children much earlier,
prevent severe complications and help them live
longer and healthier lives.
One of these children, Habul Khatoon from
Birmingham was diagnosed in October 2012 with
maple syrup urine disease when she was just a
few days old. This is a serious genetic metabolic
disorder which stops the body breaking down
amino acids in protein rich food. If these acids
accumulate and are left or not managed properly,
it can lead to coma, brain damage and death in
newborn babies.
Thanks to the early intervention and ongoing
treatment from our metabolic team, Habul is
growing and developing normally and looking
forward to a much brighter future.
Case study
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Noah and Ruby
from Sandwell
Baby Habul and mum Fahmeeda Khatoon pictured with Inherited Metabolic Specialists
Professor Anita MacDonald and Dr Anupam Chakropani
Rebekah Youlden and Arron Harvey from Sandwell
are supporting the Newborn Screening Programme
pilot as their two youngest children, Noah (4) and
Ruby (2) have glutaric aciduria type 1 (GA1), which
means that they cannot break down protein which
causes harmful substances to build up in their
bodies.
Noah was just 10 months old when he first became
ill and it wasn’t until he had spent three weeks in a
local hospital that he was diagnosed with GA1. The
length of time from birth until his diagnosis meant
that damage to Noah’s brain had already begun.
He is now in a wheelchair but can take steps in his
specially built walker, he attends school and can eat
with his family after spending two and a half years
being fed through a nasogastric tube.
40 41
Two year old Ruby on the other hand was
diagnosed at just 12 days old and started on a
limited protein diet and medication straight away to
lessen the damage to her body and brain and she
is developing normally for her age.
Her parents are all too aware of the importance of
early diagnosis. Mum Rebekah said: “Noah is a
lovely little boy who always has a smile on his face
but people find it hard to believe that he and Ruby
have the same disease because Ruby is walking
and talking and Noah is in a wheelchair and can’t
do all the things his sister can. If the heel prick test
had been able to test for GA1, Noah’s life would
have been so different.”