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