Wendy Johnson

Christopher was born 13th December 1994. At birth, there were no signs of any disabilities. When Chris was 6 weeks old, he came down with signs of a bad chest infection. After being examined, a heart murmur was detected. I noticed a small yellow speck in his eyes, which seemed to be getting bigger within two days. We were with a paediatrician for his heart and by that afternoon we were with an ophthalmologist who then sent us to the Royal Victoria Hospital in Belfast. This was February 1995. We spent a week there and the final outcome was that Christopher was blind with a detached and crumpled retina.

We were in and out of hospitals over the years. The outcome was always that Christopher was registered blind. We also saw geneticists over the years but with no outcome. When Chris was 12 years old (2006), Norrie disease was mentioned but at that stage lots of things were based on facial features and Chris did not show this. Photographs, blood tests etc. were sent to English, American and Scottish hospitals and universities with no diagnosis. Also, by this age we had to finally bring medication into his life, which we fought against for years, but when he got aggressive and started to harm himself it had to be done.

It was finally in 2012, when he was 18, that we got a diagnosis. We were visiting a geneticist for a little boy we foster. The geneticist had previously looked at Chris’s case and realised that they still had viable blood for Chris and asked permission to use it as new test had recently become available. We said yes and finally had our answer – Norrie disease. My daughter and I were subsequently tested. Luckily my daughter was not a carrier. Six months later, I found out I was a carrier.

Christopher is at the complex end of Norrie. Initially, he did have speech (although minimal) until the age of 18 months. Then it slowly stopped. He is pretty much non-verbal now with behavioural and learning problems, incontinence, and suffers greatly with reflux. Luckily we had his hearing corrected at an early age. He now attends an adult day-centre 5 days a week which has brought him on so much. He is the most smiley, loving young man. Although to me, he is still my baby.