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.