An end to the isolation

WHEN Roy and Murray Green were 12 and 10 years old they were normal, active children. True, they had both suffered a touch of jaundice when they were babies, and it was noticed that Murray had an enlarged spleen as a toddler, but apart from normal childhood illnesses there seemed to be nothing wrong with either boy.

It was only when Murray was in Primary 6 that he began to show signs that all might not be quite as it should. ''He was not managing well,'' says Susan Green, Murray's mother. ''Initially the doctors suspected he might have minimal cerebral dysfunction, or Clumsy Child Syndrome.''

It was only when Murray started having epileptic seizures that the diagnostic process accelerated and he was found to have Niemann-Pick Disease Type C (NPC); a disease that leads to progressive neurological deterioration. It was a diagnosis that sent both Mrs Green and her husband Jim, a head teacher in a primary school, into shock. Not only did they not know what Niemann-Pick Disease was, but neither it seemed did anyone else. ''The skin biopsy which confirmed the diagnosis had to be sent to France and the results took three months to come back,'' Mrs Green says.

Feeling totally alone, the couple launched into a fact-finding exercise that culminates today in the launching of Contact A Family, an organisation dedicated to providing information and support for Scottish families with children diagnosed with rare diseases. The file that describes these diseases - each page dedicated to a different disease - is more than two inches thick, containing information on more than 2000 diseases.

The file includes diseases such as Diamond Blackfan Anaemia (which leads to growth retardation), Ehlers-Danlos Syndrome (abnormalities of the skin and ligaments), Nail-Patella Syndrome (absent knee-caps, brittle or rigid nails - four families in Britain suffer from this condition), or Delayed Myelination (a rare

neurological condition). Or there is Worster-Drought Syndrome (problems with articulation and dribbling) and Williams Syndrome (sufferers have similar facial characteristics and suffer from a heart condition).

''Doctors cannot possibly know about all these diseases,'' says Mr Green, who was impressed with the speed with which doctors recognised Murray's condition - a situation Contact A Family hopes to be able to assist with. For the Greens, once the initial diagnosis was made - a similar diagnosis of Roy's condition followed shortly - the hardest part was feeling so completely alone. ''When we thought we were the only family in the country with this disease it was a horrendous feeling,'' Mrs Green, a former teacher, says. ''Even the doctors didn't know anything about it. We looked it up in medical books and found that children with NPC usually died by the age of 10, but by this time we had two children aged 12 and 14.

''We had had 12 years of normality; the diagnosis parachuted us into a different country. There were no signposts, we did not understand the language. What, for example, was an OT [occupational therapist]? What was tube feeding? What were seizures, Grand Mal seizures? How did the medication work?

And then there was the guilt. Mrs Green wondered if she had done anything wrong, she anguished over what might have caused the disease. Had she done anything she should not have when she was pregnant? She needed to keep reminding herself that this was a ''biological accident''. No-one was to blame. Not even God.

As the Greens started on their research, they became increasingly committed to finding answers to their questions and accumulating information. It was a painstaking process. They wrote to every relevant organisation they could think of, many in America.

With the help of Contact A Family in London the Greens discovered that there were 80 families suffering from the disease in Britain, seven of them in Scotland. Support groups, the Greens learned, have an important role to play in identifying the size of a potential client base for pharmaceutical companies researching possible markets.

Meanwhile, Murray's condition was deteriorating: he became unable to walk and talk. Worse, the seizures which had accelerated his initial diagnosis became more prevalent. Preparing for a future that might include two wheelchair-bound young men, the Greens prepared to move from the Borders to East Wemyss in Fife in order to take advantage of a wider range of transport and leisure facilities. However, as they put the finishing touches to the purchase of the house they now live in, Murray died. If the death of their fun-loving son at 18 came as a deep and unfathomable source of pain to his parents and his sister Ailsa, now 19, it is hard to know how Roy, two years his brother's senior and suffering from the same disease, must have felt and indeed must still feel.

There is, however, no sign of self-pity or loss of will to succeed in Roy, now 22. On a recent family holiday in the Lake District, he told his mother he was determined to enjoy doing things like hill-walking while he is still able. Convinced that a cure will come in time, Roy is determined to put his all into life and hope for a cure. This ambition may not be so far fetched: last year the gene that causes NPC was identified, an important step on the road to establishing treatment.

Roy is open about his disability. At present he is working on an HNC module, part of a media studies course to do with radio. ''I find the numbers hard,'' he says, ''but I try and get around that. My short-term memory is bad, but once it is there, it is there. It is hard with a disability because it slows learning down. I'm also trying to qualify as a lifeguard. I love it, it is great fun.

''I love the swimming, because I like using my energy. I find if I speak slowly people understand. I just enjoy what I get out of life and don't moan. But it is discouraging at times. Like now, when I am not able to take the lifeguarding exam next week, and must take the course again.''

n For details of support available to families whose children are diagnosed with a rare disorder, contact Susan Green, Contact A Family, Scotland, Norton Park, 57 Albion Road, Edinburgh EH7 5QY. Tel: 0131 475 2608.

the facts

n The different types of Niemann-Pick Disease (types A, B, and C) are characterised by an accumulation of fats in the liver, spleen, and bone marrow. Most types of the disease lead to progressive neurological deterioration - for this reason it is sometimes known as the children's Alzheimer's

n One person in a million carries the gene for NPC

n There is one chance in six million of having a child with NPC - but if both parents carry the gene, as do Jim and Susan Green, there is one chance in four of conceiving an affected child with each pregnancy

n Current research shows life expectancy is varied - between five and 40 years