Introduction

I was diagnosed with aniridia at 3 months old as I wouldn't open themnfor the Dr when he did my checks just after I was born. In those days genetic testing wasn't as advance and I was screened for Wilms tumour (a childhood kidney cancer) every 3-6months until I was 12 years old. The Dr's told me they were looking for crumpets so I always tried to make sure I had eaten them before I went. Apart from medical appointments and knowing I was 'different' I didn't take any real interest until I was 16. I was bored at college and type it into Lycos and found my friends Hannah and James. In 1998/1999 the yahoo group had just 18 members. Meeting Hannah, James and Katie was like the bit of the jigsaw I never knew was missing had slotted into place. People who liked to sit in the dark, wore sunglasses whatever the weather, peered closely at print and felt clothes before looking at them.

Since that time I have enjoyed reading the medical literature about the other effects my genetic deletion PAX6 has on the body apart from the eyes. I was also interested to see the similarities and differences between just having aniridia and having WAGR syndrome. I have never lived close enough to take part in research in London so when my good friend Jenny, who has WAGR, came back from her testing at the NIH as part of the study and told me they were taking aniridia patients I decided to sign up.

Lots of questionnaires, had to be filled in and after speaking to my parents, scratching our heads trying to remember back. Trawling through 2 large packs of medical notes and educational statements we filled everything in.

Tomorrow myself Jenny, Katie and Craig from the Aniridia Network UK committee will be going to Edinburgh to take part in a conference of medical professionals talking about aniridia and it's other effects. I'm excited as it ties in nicely with the things they are testing for in the study. I'm also fascinated by the genetics side of things.

I will write more about that in the next few days.