Family Stories

Content of the Family Stories and Blogs is the personal views and experiences of the authors and should not be read as action or advice from the Norrie Disease Foundation.

Rachael McIntyre

Teddy’s journey so far…
On the 24th March, 2016 at 8:14am we welcomed our beautiful baby boy Teddy into the world. He was amazing and everything that we could have dreamed of. The doctor came to check Teddy over and found that he didn’t appear to have red eye. After getting a second opinion from his senior, she also confirmed that she couldn’t detect red eye.

Teddy was referred to ophthalmology the following day and at just 28 hours old he underwent a series of eye examinations by a paediatric ophthalmologist. Teddy’s ophthalmologist discovered that Teddy had bilateral retinal dysplasia due to his retinas not developing properly. He explained this situation clearly to us and we booked an appointment to see him the following week to go through our situation in more detail. Teddy was prescribed dilating eyedrops and at the following appointment we were told that there was nothing they could do for Teddy’s vision and we would be sent an appointment to see a senior paediatric ophthalmologist in Leeds for a second opinion.

A few weeks passed and we attended the appointment in Leeds where Teddy’s condition was confirmed as bilateral retinal dysplasia. The pressure in Teddy’s right eye had begun to rise and after a number of eyedrops failing to bring the pressure down it was advised that Teddy should have cyclodiode laser treatment to get Teddy’s glaucoma under control. Teddy had his first treatment at 10 weeks old and required the procedure three more times. We were then given the good news that the pressure in Teddy’s right eye was stable. During the following few weeks the pressure in Teddy’s left eye began to rise and he required cyclodiode laser treatment in the left eye, too. The pressure in Teddy’s left eye rose much higher (into the late 40s). He required the procedure seven times in the left eye and was prescribed a variety of eyedrops, totalling 9 drops a day.

When Teddy was 9 months old we attended an appointment with a geneticist where we were told that Teddy has Norrie disease. This was a total shock to us as there is no history in our family. We were given lots of information about the condition and went away to digest the news.

We are now 10 months into our life with Teddy and our Norrie journey. Teddy is still the beautiful baby that we welcomed into the world and we couldn’t be more proud of him. He surprises us every single day with the milestones he meets and the determination that he shows us. Teddy is sitting strongly and has learnt to clap and wave like his peers. He is a happy baby and very strong willed. Teddy makes us laugh everyday and we wouldn’t change a thing about him. Teddy’s condition initially upset us as a family but seeing how he is now and knowing he knows no different makes us realise everything is fine. Teddy is a happy little boy and needs positivity and encouragement surrounding him. We know Teddy’s life will throw many obstacles our way but we live for the day and will adapt as Teddy’s needs change. At present Teddy is a happy little boy that is keeping up with his peers well and is also free of eyedrops with stable eye pressure.

If I can make him half as proud of me as I am of him then I know I will have done my best as a mother.

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.