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Birmingham Children’s Hospital baby is first to be diagnosed with rare disease in newborn screening pilot

Press Release   •   Feb 28, 2013 08:59 GMT

A five month old baby from Birmingham is the first in the country to be diagnosed with a rare metabolic disease, through the introduction of a nationwide newborn screening pilot.

The national newborn screening programme which screens for five conditions, including cystic fibrosis and sickle cell disorders - through a simple heel prick blood test - is six months into a 12 month pilot project to screen for five additional rare diseases. These include Maple Syrup Urine Disease (MSUD), homocystinuria, glutaric aciduria type 1, isovaleric acidaemia and long chain hydroxy acyl CoA dehydrogenase deficiency.

Five month old Habul Khatoon who is one of 228,000 babies across the country screened as part of the pilot, is now being treated for MSUD at Birmingham Children’s Hospital - one of the country’s leading paediatric centres for the treatment and research of rare diseases.

MSUD is a serious genetic metabolic disorder which stops the body breaking down some amino acids, which come from foods rich in protein. These acids accumulate and if left or not managed properly, can lead to coma, brain damage and death in newborn babies.

Today (Thursday Feb 28), on National Rare Diseases Awareness Day her mum 30 year old Fahmeeda Khatoon from Sparkbrook is encouraging the universal rollout of the screening test for all babies.

Fahmeeda had a normal pregnancy and only realised there was something wrong when Habul did not settle like normal babies. But the condition is so rare and symptoms initially so broad it could have been any number of ailments when she visited the GP six days after coming home. It was then that she was tested to see whether she had a rare disease.

Speaking about when Habul’s condition was first diagnosed, Fahmeeda said:

“It was a big shock to begin with. The nurses called me on the phone and then a few minutes later they were at the door. They called an ambulance straight away to take Habul into hospital. At this point she wasn’t crying, she was lethargic and already in a coma-like state.”

Habul was taken straight to Birmingham Children’s Hospital’s Paediatric Intensive Care Unit where she started specific treatment to remove the accumulated toxins.

Now five months old, Habul is growing and developing normally, thanks to the early intervention and ongoing treatment. Fahmeeda and Habul continue to get daily support from the metabolic team at Birmingham Children’s Hospital’s. With their help, Habul is being fed low leucine feeds which are carefully measured out and given to her by Fahmeeda, using a special feeding pump.

Dr Anupam Chakrapani, Consultant in Inherited Metabolic Disorders from Birmingham Children’s Hospital, said: “The expanded newborn screening project expedited the diagnosis and treatment of this rare condition and enabled Habul to recover quickly and as a consequence she has remained very well.

“Before newborn screening some children with delayed diagnosis would have had irreversible brain damage resulting in severe developmental problems.”

Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation Trust which is leading the study, said: “So far the project is progressing extremely well. Seven children already have been discovered and this is very encouraging.

"We're very much looking forward to seeing the end result of this project and hope it will have changed a significant number of children's lives for the better."

Birmingham Children’s Hospital is screening 75,000 children during the project and parents are being asked if they want to participate before having their child’s blood tests included.

Fahmeeda said:

“Habul was trying to cry loudly but it was a different type of cry. She stopped feeding and she couldn’t move properly. She was very floppy. She started to close her eyes and she wasn’t responding.

“I felt very upset. I really didn’t know what was going on with my baby and I was crying. The GP didn’t know what was wrong either. I had never heard of MSUD before. Habul is my first baby and it was very shocking for me.

“I’m very thankful to the Birmingham Metabolic Team for everything they’ve done for us. Back home in Pakistan there might be many children that unfortunately go undiagnosed or might pass away on a daily basis so I’m very appreciative of the programme that has picked up Habul’s condition.”

“As she grows up Habul will need to have a very low protein diet avoiding eggs, fish and meats amongst other foodstuffs, and will continue to need  careful monitoring and support” added Dr Chakrapani.

The results of the screening pilot will determine whether the five additional rare diseases should be added to the national screening programme, already carried out in newborns.

Ends

Notes to Editors

Working in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, Sheffield Children’s Hospital is leading the newborn screening pilot along with Birmingham Children’s Hospital Leeds, Great Ormond Street, Manchester Children’s Hospital, Birmingham Children’s Hospital and Guy’s and St Thomas’.

These ‘metabolic’ conditions are difficult to detect without screening and if unrecognised can eventually lead to children being severely handicapped. They occur in fewer than one in 100,000 children but patients affected can benefit enormously from the early detection and treatment offered by screening. 

Six children including Habul have been found to have rare conditions since the pilot began, which would otherwise have limited their lives. The results from this pilot will be carefully evaluated by the National Screening Committee early in 2014. The study will help determine if undiagnosed illnesses can be prevented from developing in children.

Six new films, looking at the screening pilot and the five new conditions, and helping parents understand their children’s conditions have also been made and are being launched today.

Visit www.expandedscreening.org to see these videos.

Maple Syrup Urine Disease (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) 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) 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) 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) 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.


 

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