Aspects: Ray of Hope Born from Tragedy; Missing Genetic Information Can Leave Children with Up to 180 Crippling Defects. Mel Hunter Meets Two Women Who Live in the Shadow of DiGeorge Syndrome

By Hunter, Mel | The Birmingham Post (England), July 11, 2000 | Go to article overview

Aspects: Ray of Hope Born from Tragedy; Missing Genetic Information Can Leave Children with Up to 180 Crippling Defects. Mel Hunter Meets Two Women Who Live in the Shadow of DiGeorge Syndrome


Hunter, Mel, The Birmingham Post (England)


Like all parents Julie and Paul Wootton have snapshots of every step of son Max's life. There is Max in his cot, Max with his big sister, Max in his proud mother's arms.

People ask his parents if they would prefer not to have a keepsake of the tubes which in the photographs visibly thread across Max's face, but for the Woottons the tubes, the drips and the operations were all a vital part of his young life.

Sadly the pictures finish when Max was four-months-old. He died in March last year without ever leaving Birmingham Children's Hospital.

Max was born with DiGeorge syndrome - a collection of symptoms all attributable to a missing piece of genetic information.

His problems read like a medical dictionary. He had complex heart problems, including no artery linking his heart and lungs. He also suffered seizures because he was unable to metabolise calcium, and he had to have 75 per cent of his small intestine removed after it became infected with gangrene.

In the end, his little body could take no more and Max died from overwhelming septicaemia. His parents had known from the outset that his chances of survival were 'zero'.

DiGeorge syndrome, named after the Philadelphia doctor who first diagnosed the collection of symptoms as one syndrome, does not always have such devastating consequences.

Although there are 180 defects associated with it and one person in 1,800 is affected, some people with the syndrome - caused by some missing genes on one of the 22nd chromosomes - experience only very mild symptoms.

The most common signs are heart defects, disruption of the immune system caused by problems with the thymus gland, facial features including small, low set ears, problems in metabolising calcium, problems chewing and swallowing and difficulty with speech.

Less frequent DiGeorge symptoms can cause ear infections, kidney abnormalities, leg pains and learning difficulties or developmental delays. Very occasionally patients will suffer with mental health problems.

Genetic counselling is usually offered to parents with a child who is diagnosed with DiGeorge syndrome and blood samples are tested to discover if they themselves have the chromosome deletion.

The test - Fluorescence In-Situ Hybridisation or FISH - involves a piece of replicated DNA being propelled towards the 22nd chromosomes. If it sticks to a matching piece of DNA it lights up. If it does not light up there is no matching piece on the chromosome and so there is a deletion.

In 90 per cent of cases neither parent carries the chromosome deletion and the cause of the illness is therefore unknown.

In fact there is a lot about DiGeorge syndrome which is unknown and that is how it could so easily have stayed for Julie after Max's death. She was soon pregnant with Archie, now five-months-old, and had daughter Georgia, six, to think of as well.

But when Max had been ill in hospital, Julie had met Sharon Hunt, 33, whose two-year-old son Jordan battles daily with DiGeorge syndrome.

In each other the two found someone who really understood what they were going through, and who mirrored their own gung-ho, 'we-will-not-take-any-nonsense' attitude towards the illness.

They vowed to set up a support group to help others in the same position as themselves - an idea which came to fruition after Max's death.

The DiGeorge Syndrome Support Group and its fund-raising arm Max Appeal! …

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