A 'lucky' family looks to the future

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The Independent Online
SALLY-ANNE CARTER is 16 years old; she suffers from epilepsy, autism, and has a mental age of about seven. 'We can count ourselves very lucky,' her father, Tom, said.

She suffers from tuberous sclerosis. She was diagnosed at the age of 12 weeks, after epileptic seizures.

Mr Carter, 47, says that 'thankfully' she has avoided a characteristic facial 'rash' which can be quite gross and disfiguring. He says she has the 'conventional triad' of symptoms: epilepsy or mental handicap; skin signs (she has characteristic white 'ashleaf marks' on her lower trunk); and lesions in her brain which showed up on a CT scan. Sally-Anne is the Carters' only child: after the diagnosis, they were advised not to have any more children, even though they have no family history of the disease.

More than 1 million people world-wide, and between 6,000 and 10,000 in Britain, are known to suffer from the condition. Mr Carter stressed that although the majority of cases were diagnosed in early childhood, 'it is not just a children's disease: many of them grow up to lead reasonable lives'. He is now president of the Tuberous Sclerosis Association of Great Britain, a support group in touch with at least 1,200 families. His wife Anne said that until they joined the association in 1978, they were 'isolated'.

Although the disease was first identified in 1880, by Dr Bourneville, a French doctor, Mr Carter discovered that little or no research had been done. The TSA launched its first appeal for research funds in 1979, since then it has raised more than pounds 1m.

Mrs Carter welcomed today's announcement, but said: 'It's never going to change Sally - only a miracle would do that. Hopefully in the long term, it could save her life, because it could prevent the condition getting hold of her kidneys or her lungs. I'm going to cling on to that optimism; we have got to be able to give hope.'

The Tuberous Sclerosis Association, PO Box 176, Nottingham. Tel: 0527 871898. Families affected by any genetic disorder can get help from the Genetic Interest Group's helpline 0865 744002.

(Photograph omitted)