'I don't want test to tell me if I have terminal illness'

Published on Friday 28 March 2008 21:24

WHEN Fiona Gailley recently turned 18 she faced a difficult decision – one which could change the way she lived the rest of her life.

With a family history of Huntington's disease, the teenager had the choice of having a test which had a 50 per cent chance of telling her she would also go on to develop the condition.

Miss Gailley chose not to have the test, preferring – for now – to carry on with her life as normally as possible, training to become a doctor and planning for her wedding.

Her case highlights the difficult decisions made by many young Scots every year.

Now the Scottish Huntington's Association (SHA) has just received almost 300,000 from the Big Lottery Fund to support projects helping people through genetic testing and at later stages of the disease.

It follows a previous grant to help young people living with Huntington's in their family.

Only around 15 per cent of young people choose to take the genetic test which may tell them they will become terminally ill.

For many, it may seem strange that someone would refuse a test which could tell them they do not carry the genetic fault which causes Huntington's.

But Ms Gailley said that for her, the chance of being told she was carrying the gene was too high. "I don't want to take the risk of finding out I do have the gene," she said. "It is 50-50. That is too high. I don't want a test that has those odds."

Miss Gailley's father, Tom, started suffering Huntington's symptoms at 38.

His mother had the disease, and two of his three brothers suffer from it.

Ms Gailley said the illness gradually changed her father: "He started to have violent mood swings. It has changed his personality. That went on for three years before the symptoms started to get worse.

"Now he also has bad movement. He find it hard to walk. His speech is also bad and he has poor concentration. His memory is not so good and he is also quite clumsy."

Despite this, Mr Gailley is still able to continue his office job and the family try to live as normal a life as possible.

Ms Gailley and her 15-year-old sister, Jill, have been receiving support from the SHA. The medical student at Glasgow University said the charity had been very supportive of the family.

Miss Gailley, who recently got engaged to boyfriend Scott, said she might change her mind in future and have the test, for example if she were considering having children.

But at present she just wanted to live as normal a life as possible. "I have got a great wee life," she said. "I just want to get on with living it."

John Eden, from the SHA, said the main reason that people did not have the Huntington's gene test was that there is no cure or treatment for the disease and it could be a huge psychological burden for them.

"The test will give you the knowledge that at some point you will develop the disease but you can't do anything about it," he added. "There are lots of implications for people. Having a family history of the disease can make it more difficult to get insurance or a mortgage."

Dr Mary Porteous, a consultant clinical geneticist at Edinburgh's Western General, where people can go for genetic testing, agreed the lack of treatments for the disease put people off having the Huntington's test.

"There is nothing useful we can offer," she said. "Those who do decide to have the test in a lot of cases say they just need to know. They want control over their lives and need that information to go forward.

"Other people want to find out if other people in their family might be affected. But it is a difficult decision to make."

Dr Porteous said that it took around three months for someone to go through the lengthy counselling process to getting the test done.

AN UNLUCKY INHERITANCE

HUNTINGTON'S disease is caused by a faulty gene which was first discovered in 1993.

This made it possible to create a test so people with a family history of the disease could find out if they had inherited the faulty gene.

Anyone who has a parent suffering Huntington's disease is born with a 50-50 chance of inheriting it.

And anyone who inherits the gene will at some stage develop the disease, although it is impossible to predict when it will start.

The gene leads to damage in the nerve cells in areas of the brain which lead to gradual physical, mental and emotional changes.

The disease does not usually start to develop until after the age of 35. Patients slowly deteriorate over several years until they require round-the-clock care.

Scientists are searching for new treatments for Huntington's disease.