Little Teddy with very rare disease helps launch new charity

Lee Ellerby, Rachael McIntyre and their son Teddy from York Picture by Michael Crabtree

Teddy, one, from York, suffers from Norrie disease and at the weekend he and dad lee and mum Rachael McIntyre attended to launched of the Norrie Disease Foundation in London.

Norrie disease affects boys and is a rare X-linked genetic condition that causes blindness or severe sight impairment at birth. A secondary symptom that can begin in early childhood is the loss of hearing, with hearing aids or implants prescribed over time. Other symptoms can include autism, cognitive impairment and delayed development.

While known to affect only 25 families in the country currently, the Norrie community believe more widespread awareness of Norrie disease will dramatically increase the number diagnosed.

Teddy Ellerdy Picture by Michael Crabtree

Teddy is a lively little boy who loves all kinds of music, particularly drumming. He was diagnosed with Norrie disease at nine months after doctors discovered problems with his eyes shortly after her was born.

“This was a total shock to us as there is no history in our family,” says Rachael who says they have already been helped by the Norrie Foundation.

“Knowing we are not alone and that there are other families sharing the same experience as us has made the world of difference. 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.”

She said Teddy’s condition initially upset the family but seeing how he is now and knowing he knows no different makes them realise everything is fine.

“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. “

Wendy Horrobin, Chair of the NDF and mother to eight year old Josh who has Norrie disease, said: “There wasn’t a Norrie disease network in the UK that I could reach out to for support and guidance when Josh was diagnosed which is why I decided to get in touch with other Norrie parents to set up the Norrie Disease Foundation.

“Raising awareness and educating the public about Norrie disease is a critical part of the work the NDF will do. We want to change the future for those affected by Norrie disease and believe that through the Medical Advisory Board, we can engage in new research across all aspects of the disease that will improve the lives of children and adults with Norrie disease worldwide.”

The charity was set up with launch funding from Jeans for Genes Day.