Smiling through a Life of Pain and Illnesses; Genetic Research Is Not Merely Confined to Evil Plans to Clone the Human Race. There Is a Far More Pressing Cause That Unites the Combined Efforts of Scientists Worldwide. It Is the Fight against More Than 4,000 Genetic Disorders That Blight the Lives of Millions of Families. Louise Palfreyman Talked to One Mother Whose Struggle to Get Her Son Diagnosed Has at Last Resulted in Hope for the Future

Article excerpt

Byline: Louise Palfreyman

He can't do a lot of things my other children do. But this is all he's known and he just copes.

Sara Dea

Jordan Dea suffers from a blood disorder

Sara Dea knew far less about chromosomes, genes and DNA three years ago than she does now. It is a testament to her devotion as a mother that she has armed herself with medical knowledge that would put a newly-qualified doctor to shame.

But whereas doctors learn from textbooks and case studies, Sara has learnt from the bitterness of real experience.

Her son Jordan, three, has a rare genetic condition called chronic granulomatous disorder, or CGD. It is a blood disorder that means he cannot fight infection.

Jordan's white blood cells can't kill bacteria or fungi, meaning he is wide open to a hostile array of illnesses.

Alongside this basic limitation on normal life comes a list of horrifying symptoms that mean hospital trips are part of everyday routine for the Dea family.

In a matter of hours Jordan can develop a chronic abcess as the result of infection - something that would take days to develop in the average person.

He has also suffered the agony of a rash that is part and parcel of having CGD. His lips swell up and he can run a high fever at the drop of a hat.

A rarer symptom is photo-sensitivity. Jordan can't go out in sunlight unless he is wrapped up from head to toe as if it were winter.

You'd expect him to be a miserable little boy, but Sara proudly proclaims he is anything but.

'Jordan never ceases to amaze me,' she says.

'He has been my inspiration when even I have found it hard to cope.'

Sara has three other children aged under nine, and one is autistic. So she certainly has her work cut out.

Jordan was born with a rash all over his body in May 1998. At the time the weather was very hot and doctors said it was a typical heat rash. Jordan was sent home with Sara and at first he thrived. Then, at only a month old, the weight suddenly dropped off him.

'He looked like a famine baby,' Sara says.

'His eyes were sunk into his head, and no matter how much he fed he just got thinner and thinner.

'His skin was transparent, and I was up 24 hours forcing milk down him just to keep him alive.'

Moving to richer-formula milk helped for a while, but at three months old he was only back to his four-week weight. Then at six months, Jordan developed his first abcess.

'It was Christmas Day,' Sara remembers.

'He seemed uncomfortable every time we sat him down.

'At first I didn't know why, but then I looked under his pyjama top and just screamed.'

Sara had uncovered an abcess the size of a boiled egg on her baby's neck.

Horrified, she and her 34-year-old husband, Pete, a lecturer at Sandwell College, rushed Jordan to Wordesley Hospital, Stourbridge. He was operated on that night, and there started a new chapter in the family's nightmare.

Because CGD is so rare, it took until last September for Jordan to be diagnosed. On countless occasions Sara was told that the by now recurring abscesses were a 'bad infection'.

'If I even took him out of the house, he would pick up a cough or cold,' Sara said. 'I kept asking the doctors what to do, and they gave us more prescriptions. …