“I knew from day one there was something different with Josh,” says mum, Wendy. “His eyes weren’t working properly.” In the weeks following her little boy’s birth, Wendy took Josh to A&E to find out what the problem was. When he was two weeks old, Josh was diagnosed with bilateral retinal detachments – he was blind. Another fortnight later, the diagnosis was confirmed as Norrie disease.
Around 20 people in the UK are known to have Norrie disease, and 800 people worldwide. It causes boys to be born blind or to go blind shortly after birth. It can also cause hearing loss, autism and cognitive impairment.
“Josh’s diagnosis was completely unexpected and we didn’t know what to do or where to go,” says Wendy. “When you’re dealing with a rare genetic disease, you don’t know how it’s going to affect your child because not much is known about the condition. It was a very worrying time – all we wanted to do was celebrate the birth of our son and introduce him to his older sister, Chloe.”
Arriving at GOSH
Three months later, Josh was referred to Dr Alison Salt at GOSH’s Neurodevelopmental Assessment Service. “Dr Salt referred us to other departments in the hospital – audiology, ophthalmology, rheumatology and genetics,” explains Wendy. “They’ve all been really interested in learning about Norrie disease. The departments have worked together to share experiences and understanding of the disease, and that is a huge step for such a tiny community.”
Now age seven, Josh regularly visits the Hospital accompanied by his 10-year-old sister, Chloe. “The Hospital has been a lifeline for us,” says Wendy. “They’ve taken us on board as a family. The staff are very sensitive, especially if Chloe is with us. Having a blind brother has been the most enormous learning curve for her, but she’s adjusted very well. I quite often catch her explaining to Josh what’s going on around him. She’s very good at filling him in on the social cues that he misses. She’s fiercely protective of him but doesn’t cut him any slack!”
Pushing for progress
For the past seven years, the family have been supported by teams from across the Hospital. GOSH even hosted the first multidisciplinary roundtable meeting for Norrie disease in the world. “I was lucky enough to attend, and it was so uplifting to hear all these amazing minds working together to look at possible research routes,” says Wendy.
Helping to set up that meeting was Professor Maria Bitner-Glindzicz, an Honorary Consultant at GOSH and Professor of Clinical and Molecular Genetics at the hospital’s research partner the UCL Great Ormond Street Institute of Child Health.
“Professor Bitner-Glindzicz has been incredible for us as a family and also for the Norrie community,” says Wendy. “She has been the driving force behind us setting up a Norrie disease foundation in the UK. Our aim is to strengthen and support the Norrie community and to get further research going. Helping other children who have Norrie disease, like Josh, is 100 per cent dependent on research.”
Overcoming challenges, every day
Around 70 per cent of what we learn is through sight, so Josh has had to overcome many challenges. But he has a supportive team inside the Hospital and outside at his school, including a qualified teacher who helps visually impaired children and a mobility instructor who teaches him how to use the cane.
“Josh has learned to read and write through Braille, which means he can keep up with his peers in the classroom,” says Wendy. “Josh’s hearing has begun to change and we’ve talked to him about the use of hearing aids if needed. He’s going to have to confront a lot of new barriers, but Josh has an incredible spirit and sense of humour, which we are very thankful for.”
Josh’s care will continue at GOSH over the next few years. He recently came back to the Hospital for a balance test using a chair that was made to look like a space rocket. “The staff told Josh he would be going into space for half an hour. He had great fun being whizzed around!
“My hopes for Josh are that he’ll continue to thrive and achieve whatever he wants, that he’ll find his own way in the world with the confidence and the determination that he has. I hope that he’ll be proud of who he is.”
To find out more about research at GOSH, please visit the hospital website.