A lack of knowledge shared

The lack of a support system for those with rare diseases needs to be remedied

FINDING OUT that a child not only has a disorder, but a a rare one at that, can compound the grief and anger of parents and their sense of bewilderment.

It took nine years for Eithne Agar to find out about her son Robert's condition and only then it was by chance. Listening to The Gerry Ryan Showone morning, she heard a mother speak about her child. "I said to myself, 'hold on, this is Robert'," she says.

The woman had organised a conference where a genetist and a world-expert from Birmingham, Trevor Cole, were speaking.

Though a paediatrician suggested Robert had Sotos syndrome when he was born, he was nine before seeing a specialist who also suggested the syndrome. But it took another four years before the diagnosis was confirmed.

According to the medical textbooks, Sotos syndrome is more commonly called cerebral gigantism because of the distinctive shape of the head of those who get it.

It is a disorder characterised by excessive physical growth during the first two to three years of life and by mild mental retardation, delayed development and speech impairments. The range and severity of the conditions are such, however, that it be can permanently debilitating, or those who have it can grow up to lead a normal life.

Thankfully, for Eithne and her son, who is now 20, things have worked out well. Robert is now an accomplished tenor and completed his Leaving Certificate with distinctions in several subjects.

It took many years for Eithne, who is an educationalist from Wexford town, to find out what was wrong with her son. He was born with the same size head as a one-year-old and did not speak or walk until he was five. Initially, doctors thought he had hydrocephalus. Other diseases such as cerebral palsy were almost mentioned.

"This would be a situation that any parent could find themselves in. A paediatrician visited Robert at the time and he mentioned Sotos syndrome. I heard the words, and they meant nothing and it got lost. It went into the ether," Eithne recalls.

"He was diagnosedfor everything else. Doctors could find nothing wrong, but Robert didn't walk or talk for five years. They can't tell you that he will ever walk or talk. He did not go through the same developmental process."

Her experiences have caused her to endorse a proposal by Rehab Ireland for an all-Ireland centre of excellence for rare diseases, something, she says, that would "eliminate this cloud of unknowing and this nightmarish situation that people find themselves in".

The proposal has arisen out of a study done by Rehab into the problems for sufferers and their relatives and also GPs who have trouble accessing information on diseases which they might only encounter once in their professional lives.

The report highlights the need for a centralised information service to minimise the risk of families who experience rare disorders accessing worst-case scenarios, inaccurate and out-of-date information and feeling overwhelmed as a result.

Rehab Care's director of policy and co-ordination, Sarah Jane Dillon, says rare diseases are by definition not common, but taken together, it estimates that about 365,000 people in Ireland, or more than 5 per cent of the total population of the island, have one of the 7,000 rare diseases currently identified by the medical profession.

She said that the nature of the diseases in question means there is frequently an information vacuum for parents and GPs, and there is no local support group for those who are looking for help with diseases which can often have a devastating effect on families.

According to Rehab research, three-quarters of GPs have difficulty accessing information about rare diseases, and often resort to the internet, the same tool used by virtually every family nowadays trying to find out more information.

Because of Ireland's relatively small population, it is often not possible to find a quorum of people to form a support group, but a centre of excellence would function to put families in touch with others and lessen the sense of bewilderment and isolation, she says.

"There could be somebody in Donegal with the same condition as somebody else in Donegal, and they might not know. It is important to connect them for the benefits of peer support," she explains.

Welcoming the research, Prof Hilary Hoey, head of the Department of Paediatrics, Trinity College Dublin and consultant paediatric endocrinologist with the National Children's Hospital, Tallaght, says that such a centre of excellence could be modelled on similar schemes currently running in Norway and Sweden.

She says that either the Mater Hospital or Tallaght Hospital would be an ideal location, because they each have a children and adult hospital on site.

"The components would be a national resource centre which could provide age-appropriate information. Knowledge is expanding in medicine rapidly.

"In fact, it is exploding and there is no way that health professionals can access all the information at the time- they can't be expert on every single condition," she says. "The centre would provide best international practice, evidence-based information in the Irish context."

Hoey says that such a centre could be funded by the State and through fundraising, and would pay for itself in the long term by giving quicker diagnosis and treatment and better support to hard-pressed families.