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:

http://www.gosh.nhs.uk/medical-information/clinical-specialties/neurodisability-information-parents-and-visitors/clinics-and-services/developmental-vision-clinic

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.