Families in crisis over rare disorders

NEARLY three-quarters of families experience crises brought about by the pressure of caring for a loved one who suffers from a rare health disorder, a new report has found.

Feelings of isolation, financial pressures and other children being overlooked are some of the knock-on effects on families coping with a rare condition, the RehabCare study found.

Launching the report in Dublin, health chiefs, GPs and parents backed calls for a national centre to help people with rare conditions.

RehabCare’s chief executive, Angela Kerins, said families were often left to cope alone, with no other recourse than to download internet documents on a child’s condition.

“Our health care professionals haven’t got the expert support necessary to help them do the diagnosis, never mind the support services that come afterwards.”

Ms Kerins said a whole range of conditions existed. Many were rarely diagnosed and often parents found “scary” answers when they went looking for details online.

“Conditions can be reflex difficulties to significant heart problems, to physical disabilities, to behavioural issues,” she explained.

According to the research, the first of its kind, up to 6% of the Irish population have rare disorders, of which there are between 5,000 and 7,000 across the island of Ireland.

The vast majority affect children, including conditions such as Prader-Willi Syndrome, Fragile X and Williams Syndrome.

Many of the conditions can be life-threatening or chronically debilitating.

The report included surveys of 23 families, 232 GPs and interviews with a number of health professionals.

It found 72% of GPs said having a rare disorder gave rise to family problems, such as feelings of isolation and financial hardship.

Some 60% of GPs were forced to look for information online.

Over three-quarters also admitted it was difficult to provide information to families about disorders.

Families themselves revealed the stress that having a child with a disability placed on the parent’s relationship. And often, brothers or sisters of the child were also overlooked.