Families of children with rare diseases wait three years for genetic counselling

Judit Bodor and her son Christopher at home in Passage West, Co Cork. Christopher was diagnosed with a rare condition at Cork University Hospital in May, with this confirmed as Angelman syndrome in October. Picture: Larry Cummins

Families are waiting up to three years for genetic counselling after a child receives a rare disease diagnosis, with one Cork family only offered a telephone appointment for their toddler.

Genetic counselling helps families understand and manage rare diseases, with advocates saying a new diagnosis is “daunting” for parents.

More than 300,000 people in Ireland have a rare disease and Tuesday marks Rare Disease Day.

Judit Bodor said her son Christopher Csapo, 2, is loving and friendly. He was diagnosed with a rare condition at Cork University Hospital in May, with this confirmed as Angelman syndrome in October.

Angelman syndrome causes delayed development, problems with speech and balance, intellectual disability, and, sometimes, seizures.

“The main problem is they don’t provide any information, no support when you are facing the fact that your child has a rare genetic disorder which is not curable,” she said. 

They say your child will never talk, and will need care throughout his life, and you would need some support with that.” 

On Friday, she received a letter offering a telephone appointment on April 5 at the national centre in CHI at Crumlin.

“I don’t know how the geneticist wants to assess Christopher if they can’t see him,” she said. “It’s strange to see a child with a rare genetic disorder by the phone. If it was a video I would say ‘Ok, that’s not too bad’ but it’s a phone appointment.” 

A sponsored swim at Kilmurrin Cove, Co Waterford, to mark Rare Disease Day. Picture: Dylan Vaughan 

Formerly a tanning salon manager, she is learning about this condition but stressed: “I’m not a therapist”.

The HSE connected her with Enable Ireland, however, she found both appointments lacked practical advice. She then contacted support group Rare Ireland, which subsided private counselling with a UK-based consultant who travels to Ireland.

“We only waited four months to see this geneticist, but before when I called Crumlin and asked how long is the waiting list, they said 12 months,” she said. She is aware from other families in practice this means “usually two or three years”, adding: “so then I was very desperate”.

The family is one of 1,700 supported by Rare Ireland. Co-founder Laura Egan said: "Many parents receive their children’s diagnosis over the phone or written on a scrap of paper." 

“They are then put on a waiting list to see a genetic consultant for genetic counselling to receive information on their child’s condition. There’s no follow-up care and no information given to parents by their practitioner at the time of diagnosis.” 

She added: “The waiting time for a genetic appointment is currently two to three years, which is unacceptable and demoralising. It adds further stress and worry to already struggling families.”

Since September, 30 children received subsidised counselling, with many more booked for the coming months.  

Another advocacy group, Rare Disease Ireland, has raised concerns about delays updating the national rare disease plan.

Health minister Stephen Donnelly has now confirmed work is due to start on the new plan in line with promises made in the Programme for Government. An expected publication date was not given.