Cameron's story Norrie Disease cognitive impairment Jeans for Genes

Cameron's story

When her new baby son Cameron was six-weeks-old, Carla noticed he rarely had his eyes open. He wasn’t as mobile or alert as she remembered big sister Morgan, now nine, as a baby. Then one day when he did open his eyes, Carla spotted a tiny yellow dot on the pupil.

She took him to her doctor’s surgery but during the appointment Cameron kept his eyes clamped shut. He was referred for an emergency appointment at the eye hospital near where they live in Bristol. Whilst waiting for the appointment, Cameron caught a stomach bug and as he was losing weight he was admitted to Bristol Children’s Hospital.

Carla, 28, says: “The doctor shone a light into his eyes and said they had the appearance of cataracts. Cameron was then seen at the eye hospital whilst we were staying at the children’s hospital. His eyes were held open with clamps – my partner Adam and I had to leave the room while they did this, it was so upsetting. The doctors said both his retinas were detached. They thought it could be the genetic disorder Norrie Disease.”

At eight weeks old and still in hospital, Cameron had an MRI scan under general anaesthetic, so doctors could take a closer look at his eyes. The scan results confirmed what the doctors suspected – Cameron had Norrie Disease. Genetic testing confirmed this when Cameron was five months old. Carla is a carrier. Sisters Morgan, nine, and Indie, 17 months, can be tested when they are adults to see if they are carriers.

Norrie Disease is a rare genetic condition which causes boys to be born without any vision or light perception. It is an X-linked disorder – women who are carriers have a 50/50 chance of having sons who are affected and the same odds of having a daughter who is a carrier. In addition to lack of vision, boys may have hearing loss, autism, cognitive impairment and lack of mobility. Around 30 families are known to have Norrie Disease in the UK.

Carla says: “The whole time I was just thinking, please don’t let it be Norrie, because by then I had spent hours researching it and we had been told that if it is Norrie he’d be totally blind. It was very upsetting to be given the diagnosis. We were devastated. We were told Cameron has no vision or light perception at all. Finding out I was a carrier meant I had a sense of guilt that I had passed it on.”

Since the diagnosis, Cameron has had many challenges. In his first year Cameron had three general anaesthetics to remove scar tissue at the back of the retinas. A hearing test at the age of three revealed he had no hearing in his right ear. He could still lose his hearing in his left ear.

Cameron had a feeding tube fitted in March 2017 as feeding had become a battle and he regularly ended up in hospital with hypoglycaemia. His development has been very delayed. He didn’t stand up until he was two and started to walk at three, taking a year to be able to walk unaided. He walks on tip-toes but needs a wheelchair when out and about. He doesn’t speak, and communication is very difficult. He was diagnosed with autism at the end of 2017. Now aged five Cameron is developmentally at the age of a one year old.

Carla says: “We live in a bungalow, adapted to suit Cameron’s needs. He attends a specialist nursery school full-time, which he loves. Sometimes I talk to him and I think he hasn’t understood. We do on-body sign-language. My youngest daughter, Indie, is more independent than Cameron. Cameron maps out the home and knows where everything. For example, he knows how to find his toy box. We try to keep furniture in the same place with no clutter, so he can get around safely.

“Cameron loves bouncing on a trampoline, swimming and hydrotherapy. He is such a happy child. His smile strikes you when you meet him. He never lets anything get him down. He is amazing. Most people think it is the worst disability, to be blind, but it doesn’t stop him enjoying life.”

The Norrie Disease Foundation will this year receive a grant from money raised on Jeans for Genes Day 2018 to fund a family fun day. The fun day will bring families affected by Norrie Disease together, to share experiences, information and support each other.