Oireachtas Joint and Select Committees

Wednesday, 26 May 2021

Joint Oireachtas Committee on Health

Rare Diseases: Discussion

Dr. Sally Ann Lynch:

Yes, for sure. It is approximately 60%. A diagnosis can probably be made in 40% of cases with the latest test. That is 40% of children with significant problems.

If one is seeing a child with a milder clinical picture, it will drop down to perhaps approximately 20%. A higher percentage will not have a diagnosis despite testing.