Baby blood test could save lives

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, 46, from Haywards Heath, West Sussex, 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."

MCADD affects one child in every 10,000. One in every 20 affected dies 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 pin prick in a baby's heel by a midwife, usually during a home visit.

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 roll out the blood test. She said diagnosis is important because: "This can allow children to have some very simple treatment to prevent them getting ill."