With thanks to Press Association
A potentially life-saving blood test for a rare metabolic condition is now being offered to newborn babies across England. Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) can usually be easily managed once diagnosed but often the first sign is when the sufferer is taken seriously ill.
The disorder affects the body’s ability to break down fat for energy, especially when someone is ill or has not eaten for several hours. Those with the condition can become seriously ill and can even die unless they are given glucose.
Katy Frost had no idea she had MCADD until she collapsed during a school activity holiday at the age of 10 and her organs started failing. Her parents were told to expect the worse but Katy, now 13, was eventually diagnosed and was given treatment which enabled her to recover.
Her mother Cora Durkan, said: We were lucky that she survived.
"That’s the reason for the screening programme, MCADD can kill. However easy it is to manage, when it goes wrong, you can die."
Katy said she thinks the routine tests for babies is a good idea because otherwise some people could find out like me.
MCADD affects one child in every 10,000. About one in every 20 affected may die as a result of a MCADD crisis and others may be left with brain damage. The new screening programme aims to prevent a crisis ever happening by diagnosing the condition through the routine test when a baby is around five days old.
The test for MCADD has simply been added to those for cystic fibrosis, sickle cell disease, the genetic disorder phenylketonuria and congenital hypothyroid. Blood is taken from a prick in a baby’s heel by a midwife, usually during a home visit.
Micaela Gargan’s daughter Jessica was diagnosed with MCADD through the blood spot test which she thinks may have saved her baby’s life. Jessica, now three, was given a general anaesthetic last summer when she had a procedure to her tonsils and adenoids and had grommets fitted.
Normally she would have been expected to fast before the operation but, because of her condition, Jessica was given glucose to prevent her blood sugar from dropping dangerously low.
Mrs Gargan said: Without that test there is a chance she may not have woken up.
The guidance given to Jessica’s parents after her diagnosis also meant they knew to take her to hospital to be fed through a drip when she was unable to eat or drink due to gastroenteritis when she was eight-months-old, and a bout of flu just before Christmas last year.
Professor Carol Dezateux, director of the Medical Research Council Centre of Epidemiology for Child Health, led the pilot study which preceded the Department of Health’s decision to introduce this screening programme. Professor Dezateux is based at the UCL Institute of Child Health, London. She said diagnosis is important because: This can allow children to have some very simple treatment to prevent them getting ill.
Professor Dezateux added: ‘For most parents this test means their baby having a heel prick test and getting back reassuring results that their baby doesn’t have MCADD. For those who do have MCADD it means they can avoid finding out about this only when their baby first becomes ill.
Its impossible for families to know whether their baby is helped by screening, so although MCADD is an uncommon illness we strongly advise all families to have their babies tested.
Dr Barbara Judge, director of the UK Newborn Screening Programme Centre which co-ordinated the roll-out of the screening programme, said the cost of providing the blood spot screening service was much less than the cost of providing additional healthcare to people who became ill before the conditions were diagnosed.
Health Minister Ivan Lewis announced in February 2007 that blood spot screening tests for MCADD would be rolled out across England. The successful introduction of the test will be celebrated on Monday at a reception at the House of Commons. Children with MCADD, their parents, midwives, doctors, laboratory staff and politicians who supported the tests introduction will be among the guests.
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