Saw a very helpful and informative genetic counsellor this week. It’s a great shame my parents weren’t with me as they’d expressed an interest to find out a bit more about LCA and I think she’d have been a good person for them to see.
Her main reason for visiting me this week was to determine, before I have any genetic testing, that my expectations are realistic. My reasons for wanting testing are to determine whether I actually have LCA, and also to find out if I carry the one defective gene that they are currently researching treatment for.
So I’m now on the waiting list to see a specialist. I was very impressed with the person I saw and also with the fact that once seen, patients have open access to the department if further information is required.