Clinical Genetics

today I had a very productive and interesting visit to the Department of Clinical Genetics at Nottingham city Hospital. I took my parents along and hope that they also found it useful.

I had two reasons for wanting this appointment. Firstly, I wanted my parents to talk with a genetic counsellor as they have been very ill informed over the years, and I wanted someone to explain to them just how I would have inherited my eye condition, Leber’s congenital amaurosis, LCA.

Secondly, I have read in recent years about various trials of gene therapy which are now being conducted amongst people who have LCA. So far, these have been done with people who have a defective RPE65 gene, and there are earlier trials going on for people with the defect at AIPL1.

The appointment went very well, we saw two very approachable people who were happy to sit down and discuss it with us at great length. It was agreed that they would take a sample from me to first be tested for a defect on AIPL1. the reason for this is that my symptoms are closer to others who have a defect at AIPL1. If this is not the case with me, RPE65 will then be looked at. Should they not find a defect at either of those two genes, my case will be discussed with Moorfield’s eye Hospital to see if they are carrying out any further research.

Nothing will happen very quickly as it is all in research stages and at the end of it, there may well not be anything that can be done for me, but I am pleased that my DNA is to be tested and that I am working with people who are keen to explore as many avenues as possible with me.

So my DNA is now out there, and who knows what will happen.

This morning’s appointment was nothing but positive. It wasn’t really like going to hospital in that we all sat round in what was more like an informal meeting. We had plenty of time for our discussions and I really felt that I was being listened to by people who will do everything they can to help.

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About Mel Griffiths

I live and work in Nottingham, England and am blind. This blog is often centred around things that happen to me because of being blind. This is my space to write and sometimes people will disagree with what I write, but its the one place I have in which to be frank and honest. I also like to reflect on the funnier side of life from time to time.
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