Help At Last – Living With Norrie Disease

5 year old Cam

One Mum’s story of finally finding help for her son’s very rare genetic condition at Great Ormond Street Hospital

Our son Cam is 5 years old and has Norrie disease which causes mainly boys to be born blind or with a severe sight impairment. Other secondary symptoms include progressive hearing loss, cognitive impairment and autism.

After years of trying to find medical professionals who understood Norrie disease we recently visited the Developmental Vision Clinic at Great Ormond Street Hospital. We were referred there by our Opthamologist due to behaviour and communication difficulties. The assessment was around 2 hours long and took place with a consultant paediatrician and occupational therapist. The Reynell Zinkin Scales suggested Cameron’s sensorimotor understanding was of a 1 year old and his weakest skills in the domain of communication were at less than a 6 month old level.

It has always been obvious Cameron’s pace of learning is very slow, and it is now clear his brain is not functioning the way that it should. The doctors are investigating previous brain scans and we also came away with a diagnosis of Autism Spectrum disorder.

We do not feel upset by this news, we have already accepted Cameron for his uniqueness over the years and we feel it’s  just another part of his wonderful personality and the reason why we love him so much.This new label can only lead to more open doors of opportunities and it will never define who he is.

It was reassuring to hear, that we as parents are doing all we can do to push his progression forward and have all the right measures in place. With this new information we can continue to put the best suitable strategies in place that best fits Cameron’s needs.

We also discussed his level of hyperactivity and his constant need for physical activity. Cameron really struggles to relax, continuously bouncing, rocking, standing, all day long. We know this affects his level of concentration and want to explore every option of medication or therapies that can help.

I never want to change his personality and the little boy he is becoming. His smile continues to light up our life and although the report was a tough reality check, we see it as another barrier to break down and overcome, because my little boy is strong willed, brave and fearless and I know he will continue to make progress in his own time and of course in his own way.

The one thing that really hit home was Cameron’s poor feeding and the illnesses he has faced over the years due to malnutrition. We all agreed his Gastrostomy feeding tube saved his life and he wouldn’t be here today without it. That there makes me appreciate him even more.

I only wish we would’ve known about the Developmental Vision Clinic at GOSH service sooner & I urge anybody in similar circumstances to visit the DVC. I have waited 5 long years to talk to Doctors who understand and just ‘get it’. Not only did we receive a full report, but a plan to move forward and support him, liaising with everyone included in his care.

We walked out of Great Ormond Street Hospital that day, loaded with new information, a new diagnosis, a key to unlock the next stages of Cameron’s development and a what feels like a weight off our shoulders.

By Carla Danielle Golledge

GOSH Developmental Vision Clinic (DVC)  is setup to see babies and young children with severe-profound visual impairment up to the age of 5 years to provide guidance on developmental progress, and answer any other questions that families may have about their child’s vision or development. This is in addition to the crucial support that hopefully families are getting from their local services, particularly the QTVI. Families should be linked into the local child development service (Community Paediatricians and therapists).

GOSH DVC service is a ‘tertiary’ service (GPs are primary, Community Paediatrics/Child Development Centre is secondary, specialist hospitals are tertiary) and can only take referrals from a Community Paediatrician or Hospital Paediatrician or from an Ophthalmologist.

Here is a link to GOSH web based information:

For UK families who wish their child  to see an Ophthalmologist, Audiologist or Endocrinologist at GOSH they can ask their child’s Paediatrician or Ophthalmologist for a direct referral to these services,  if there is a clinical concern. The decision to accept the referral or not will then be up to the receiving team at GOSH for instance if a child is growing well, with no concerns about faltering growth, other hormonal difficulties or other pathology, the Endocrine teams may be happy for local monitoring and referral at a different point in time.


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.