Family of boy with rare genetic disorder to set up foundation to help other parents
PUBLISHED: 14:25 20 October 2018 | UPDATED: 14:25 20 October 2018
The family of a little boy with a genetic disorder so rare even doctors had to Google hope to set up a foundation to help other parents and push for advances in treatment.
Jack Wright wasn’t even two years old when tests showed he had Pelizaeus-Merzbacher Disease (PMD), a genetic disease which results in slow development.
His parents Sian and Carl Wright, from Diss, face an anxious future as there is currently no cure or standard course of treatment for the disease.
The family are also organising fundraising events across Norfolk and Suffolk and running a GoFundMe page so they can adapt their home, buy equipment and potentially get Jack stem cell treatment if research advances to help his condition.
Fundraising efforts have included a quiz night, a coffee morning in December, with a charity golf day at Wensum Valley and dinner dances in Norwich and Ipswich planned for next year.
They plan to use some of the funding to set up a PMD foundation in the UK.
“There’s one in Germany and one in America, but there isn’t one here at moment,” said Sian. “It is one of the things that the American specialist doctor we saw at Addenbrooke’s, who is one of the leading figures in PMD, suggested that we could do, to set up a group that should they have a breakthrough, which they are on the verge of doing, could push for treatment in this country.
“There is nothing like it already set up that could give parents like us support. There is one for lots of neurological diseases but nothing specific for PMD.”
Addenbrooke’s Hospital only knows of two cases of PMD in the country. Jack could undergo a trail of a new drug at the hospital next year with Professor David Rowitch.
Jack’s grandfather Richard Wright said: “He is quite a leader in the PMD side of it so we are quite lucky to have him looking after Jack. It is a drug that is used for MS which is similar to Jack’s disease in that it affects the myelin in the brain. Hopefully it will stop any degeneration of the disease and halt anything nasty that is going on.”
Despite his condition Jack remains just as active as any little boy.
“He is in good spirits and he has got a little walker now that we are using to build up the strength in his legs,” said Mr Wright. “That is helping him a lot because he really enjoys walking and achieving something himself rather than being carried or pushed around.
“He sees other kids doing things and just wants to copy them. He is full of enthusiasm and I think that is probably what is pushing him along to succeed. If you put him in the swimming pool he just splashes around and you wouldn’t think there was anything amiss. He is full of energy.”
• If you would like to donate to Jack’s page, go online to GoFundMe