On Wednesday evening Sandie (guide dog) and I met Katie, Jenny and Jaynie (guide dog) on the train up to Edinburgh. As always we talked non stop catching up on the news despite chatting on MSN very regularly. Sandie and Jaynie were very happy to have a good play with each other after such a boring train journey and doing some work in a new place. It really helps relieve their stress.
Thursday didn’t get off to the greatest start. We had kindly been offered a table in the bar for our breakfast as the manager felt it would be too cramped in the restaurant with the girls. It was a lovely thought but we had to wait 30 minutes to be served and ended up running late. It’s one of those situations where you don’t want to complain as people have really gone out of their way to do what they see as the best thing.
The conference was funded by the Sharon Stewart Trust, which was set up to provide funds for research into aniridia. The conference brought together professionals from different backgrounds such as genetics, opthalmology and neuropsychology alongside patients with aniridia. The main focus of Thursday’s talks and discussions were around the PAX6 gene and it’s functions.
It was interesting to find that there are cases of people who do not look like they have aniridia but upon further inspection and genetic testing have a variant type of aniridia. These people are usually found to have the corneal changes around the edge of their cornea which is only visible if you are specifically looking for it. There are also people who have aniridia but do not have the PAX6 mutation. Although this is very rare geneticists are looking into what other genes may be involved.
There was also discussion about the corneal changes in aniridia, in the medical community ophthalmologists believe that these changes are due to a stem cell deficiency due to the success of the stem cell treatments given to patients. A number of geneticists talked about the experiments they have been doing on mice to establish whether, in fact it was a stem cell deficiency or some kind of wound healing difficulty amongst other things. They are still doing research to establish what the cause is.
On Friday morning we decided to skip the personal service and headed down to the buffet where there was ample space for both dogss to lie down while we ate.
Thankfully today we arrived on time at the conference as we were the first to present! Katie introduced the talk and gave an overview of Aniridia Network UK and what we do.
Jenny then talked about her experiences as a patient and read out two wonderful pieces of advice written by parents who have children with aniridia called ‘If only….’. If anyone wants to read these I will be publishing them in the next edition of the Aniridia Network UK newsletter which I hope to get out to everyone in August.
The last part of the presentation involved me summarising the discussions which we had at our annual meeting about our experiences as patients and parents with medical professionals. The talk was very well received and people commented that they felt very moved by the stories.
Unfortunately I then had to leave to get back home so I missed Jill Nerby from Aniridia Foundation International giving her presentation which I am told was excellent and very interesting. I’m looking forward to reading the power point presentations of the talks I missed.
Lots of the information and discussion was very technical and I only got the gist of the topic being discussed but it was exciting to see researchers stimulating discussion and giving other researchers ideas and posing questions.