The hidden Huntington's
Huntngon's Disease: The organisation that campaigns on behalf of sufferers of Huntington's disease has warned that occurrences of the degenerative disease - particularly in its early stages - may be going undetected in this country.
"Our fear is that people are slipping through the net," said Ms Bernie Moran, development officer with the Huntington's Disease Association of Ireland.
Huntington's disease (HD), which is also known as Huntington's chorea, is a debilitating condition caused by a defective gene, usually inherited from a parent. In its early stages, the disease can manifest itself in a variety of forms - mood changes, erratic behaviour or poor motor control that is often attributed to clumsiness or even intoxication.
Such apparently non-medical symptoms mean detection is often difficult. Unless a doctor explores the medical history of a patient's family, it is easy to overlook the disease.
"Nobody turns up in a hospital with Huntington's, they turn up with the symptoms," said Ms Moran. One young person affected by the disease told The Irish Times she was often refused entry to discos because the doormen thought she was drunk.
Prof Andrew Greene of the National Centre for Medical Genetics accepts that the disease is often difficult for doctors to recognise.
"It's a question of medical awareness among health professionals about what Huntington's is and the way it can manufacture itself - all the clinical manifestations of it, which can be quite varied."
Family history is important in diagnosing Huntington's disease because there is a 50 per cent likelihood of the gene being passed on to a child - a fact highlighted by HDAI in a recent advertising campaign. Awareness of this aspect of the disease was also boosted last year when Jo, a character in RTÉ's Fair City, refused to marry her partner for fear she and her children would develop the disease.
Although someone with HD can live for up to 20 years after the first symptoms appear, the disease is ultimately fatal and there is no treatment currently available. However, proper care, such as an increased daily intake of calories and drugs to treat some of the indirect effects of the disease, including depression - can greatly enhance a sufferer's life.
The HDAI provides support and information to over 400 families in Ireland and is calling for a centre of expertise to be established where sufferers can receive dedicated care. Data on the condition could be gathered in such a facility and shared among local medical professionals.
The HDAI is also urging the Government to introduce legislation which would prevent third parties from discriminating against those who have the HD gene. A genetic test for HD has been available since 1993 and it is feared insurance companies, for instance, could insist on this test being taken before they provide any cover to an individual.
The HDAI warns that if legislation is not put in place now, a substantial section of the population who suffer from genetic disorders - not just those who suffer from Huntington's disease - could experience legalised discrimination in the future. They say there is already evidence of this happening in other countries.
In the meantime, while there have been widely reported breakthroughs in gene-based research, Prof Andrew Greene is circumspect regarding treatment for the disease being found in the near future.
"When the gene was found in 1993 there was great excitement, and obviously a lot of representation in the media about potential cures around the corner.
"We're now 11 years on and there isn't anything immediately around the corner. It is not going to be a short-term issue," said Prof Greene.Two big decisions face those who reach adulthood in a family where a parent has been diagnosed with Huntington's disease. The first is whether or not to take a genetic test that would confirm the presence of the disease-causing gene in themselves.
The second is whether or not to have children and to accept the 50:50 risk of passing on the gene - should they have it - to their offspring. Not surprisingly, it is difficult to get someone in such a situation to talk about coping with HD.
"Your emotions are sharply impacted when you know you're going to die of a horrible disease, and you don't necessarily want to tell anyone," says Mr Kieran Dunne (not his real name).
Sufferers of the disease - or those who have tested positive for the gene, but who have not yet developed HD - have an understandable fear of stigmatisation. They don't wish to be singled out, professionally or personally, not least because they are dealing with rights-of-life issues.
When Kieran married, he was aware of the one in two chance that his wife could develop the disease, since her father had been struck down with the ailment. However, they refused to let the disease restrict their lives and they had a daughter.
"We wanted to live life without being constrained by Huntington's," said Kieran.
However, not long after their child was born, Kieran's wife began to display the early signs of Huntington's disease. Following genetic testing, her condition was confirmed. At that point, the couple decided they would have no more children, their decision based on what they knew their only child was going to experience. And they didn't want other children to go through the same.
"They basically have to watch a parent disintegrate and then die."
Kieran's daughter is now in her teens, but she has not been tested for the gene - her father believes that is a decision she has to make herself when she's ready.
He says that every day of his life is dominated by the disease - which can manifest itself in a variety of forms - and argues that only someone who is going through the experience can understand what it means.
"Huntington's sucks the simple pleasures out of life. You don't know which aspect will appear next and how it might develop."