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Sandwell parents back study into rare diseases at Birmingham Children’s Hospital

Press Release   •   Jul 17, 2012 12:32 BST

Birmingham Children’s Hospital is taking part in a pilot study which will see thousands of babies across the West Midlands tested for five rare conditions.

Rebekah Youlden and Arron Harvey from Sandwell are supporting this important study, as their two youngest children were diagnosed with a rare metabolic disease, Glutaric aciduria Type 1 (GA1) – one of the conditions that the pilot study will test for.

Birmingham was chosen to take part in the year-long pilot because of its world-leading research and care for children with rare diseases, many of which occur in fewer than one in 100,000 children. These types of diseases are difficult to detect without screening and if unrecognised can lead to children being severely handicapped.

Currently, five conditions are tested for across the UK as part of the Department of Health’s national newborn screening programme: sickle cell anaemia, which affects 350 babies a year; cystic fibrosis, which affects 250 babies a year and phenylketonuria, congenital hypothyroidism and medium chain acyl-CoA dehydrogenase deficiency (MCADD).

Over the next year, around 430,000 newborns across the country will be tested for five additional rare conditions, including: Maple syrup urine disease; Homocystinuria; Glutaric aciduria type 1; Isovaleric acidaemia and Long chain hydroxyl acyl-CoA dehydrogenase deficiency (further details in notes to editors)

Rebekah and Arron have seven children, aged between 15 and two and their two youngest children, Noah (4) and Ruby (2) have 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 the damage to Noah’s brain had already started and he is now in a wheelchair but can take steps in his specially built walker, attends school and can eat with his family, after spending 2.5 years being fed through a nasogastric tube which has recently been removed.

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. Ruby is developing normally for her age and her parents are all too aware of the importance of early diagnosis.

Mum, Rebekah Youlden, 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.”

Blood is collected by a midwife, generally within the first week of life. The baby's heel is pricked and drops of blood are collected and analysed in a specialist newborn screening laboratory. No additional blood is required for this pilot study.  The screening gives families access to specialist treatment and support from an early stage if there is a problem.

Five other centres are also conducting the pilot - Sheffield Children’s Hospital, St James’ University Hospital Leeds, Great Ormond Street Hospital, Manchester Children’s Hospital and Guy’s and St Thomas’ Hospital – and around 16 children are expected to be diagnosed and treated early enough to help them live normal lives.

Mary Anne Preece, Consultant Biochemist at Birmingham Children’s Hospital, said: “This study is a big step forward for us.  It will enable early detection of these five rare but serious conditions.  Babies can then be treated from an early age so that severe complications may be prevented.  It will mean that we can help more of our young patients to live longer and healthier lives, and if this study is successful, it will pave the way for us consider screening for other rare conditions in the future.”

Birmingham Children’s Hospital will screen around 75,000 children during the project and parents will be asked if they wish to participate before having their child’s blood tests included.

Notes to Editors

  • Interviews/photos with specialists, the Harvey family or other local families is available on request. Please call us for more details.

Maple Syrup Urine Disease (MSUD)

MSUD is a rare disorder in which a baby or child has a problem breaking down protein. Protein is an essential part of our nutrition and is needed for growth and repair of tissues in the body. In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes (chemicals found naturally in your body) then make changes to the amino acids so that the body can use them. People with MSUD are missing one of the enzymes that help break down some of the amino acids from the foods they eat and this causes harmful substances to build up in their blood and urine. 

People with MSUD have problems breaking down three amino acids called leucine, isoleucine and valine from the food they eat and this causes harmful substances to build up in their blood and urine.  High levels of these substances can cause an unusual sweet smell in the urine and sweat.  MSUD can be treated to try and prevent the harmful build up of substances.

Glutaric Acidaemia Type 1 (GA1)

GA1 is one of a rare organic acid disorders in which a baby or child has a problem breaking down protein.  Protein is an essential part of our nutrition and is needed for growth and repair of tissues in the body In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids.  Special enzymes (chemicals found naturally in your body) then make changes to the amino acids so that the body can use them.  People with GA1 are missing one of the enzymes that help break down some of the amino acids from the foods they eat and this causes harmful substances to build up in their blood and urine. People with GA1 have problems breaking down three amino acids called lysine, hydroxylysine and tryptophan from the food they eat and this causes harmful substances to build up in their blood and urine. GA1 can be treated to try and prevent this.

Homocystinuria (HCU)

HCU is a rare disorder that prevents the normal breakdown of protein.  In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. In Homocystinuria one of these amino acids does not break down in the usual way and a chemical called homocysteine builds up in the blood. Without early treatment this can lead to long term health problems, including learning difficulties. However, these problems can be prevented by following the treatment advised by your Specialist Metabolic Team and your child will grow normally and have a normal life expectancy.

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase deficiency (LCHADD)

LCHADD is one of the rare fatty acid oxidation disorders in which a baby or child has a problem breaking down fat to produce energy.  People with LCHADD are missing one of the enzymes (chemicals found naturally in the body) needed to do this.  Fat is an important energy source in the body, particularly for the heart and muscle.  Sometimes we need to break down our stored fat, for example when we have not eaten or drunk for a while or when we are unwell. People with LCHADD cannot break down fat very well to make energy when it is needed, as one of the enzymes involved this is not working or missing. 

Isovaleric Acidaemia (IVA)

IVA is one of a rare organic acid disorders in which a child or baby has problems breaking down protein.  Protein is an essential part of our nutrition and is needed for growth and repair of tissues in the body. In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids.  Special enzymes (chemicals found naturally in your body) then make changes to the amino acids so that the body can use them. People with IVA are missing one of the enzymes that help break down an amino acid from the foods they eat and this causes harmful substances to build up in their blood and urine. People with IVA have a problem breaking down an amino acid called Leucine.  Leucine is broken down to isovaleric acid which is normally further broken down to make energy. People with IVA lack the enzyme which breaks down isovaleric acid.  This acid then builds up in the body and causes harmful effects and illness.

Birmingham Children’s Hospital NHS Foundation Trust provides a comprehensive service to children, young people and their families.

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Comments (1)

    These are very special friends of mine...we met because my son Jacob also has the condition, jacob is also brain damaged as a result of this condition....The above story is a sad but great example how diagnosing this condition early can make the difference...so thankful this condition is now being pilot screened....if you lived with this condition you would understand how much it means.

    - Hayley Griffiths - Jul 17, 2012 23:56 BST

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