The Road to Diagnosis

[JayKayPee]

Tell us how it was for you!

Can diagnosis be improved?

How long did your diagnosis take?

How many different departments were you sent to?

[DC_motheranddaughter Partner]

My sister has been to 3 different types of haematologist (all specialising in different things that have gone wrong with her blood), a liver specialist and two different chest physicians. Also many different chronic fatigue specialists- before she knew the diagnosis, several emergency/ITU/ general medical doctors and a geneticist.

My dad went to lots of medical and surgical specialists who could never understand what the problem was. When he got really ill, he saw 2 teams of haematologists, 2 liver specialists (one of whom was convinced he had a different condition, the other one didn't speculate on the cause of his problem), 1 lung specialist, oral medicine, dermatology and plastic surgery.

In the end, we got the diagnosis by persuading his doctors to send a blood sample to Dr Inderjeet Dokal. At first, he couldn't find a cause either, but eventually there was more research, so he checked again and found an RTEL1 mutation, which was the cause. We were then able to get the family tested. I'm hoping that the NHS will do better for people in the future.