Mum of boy with rare genetic disorder in charity launch
9:20am Friday 27th June 2014 in By Jill Crooks, Devizes area senior reporter
The mother of a six-year-old boy with a very rare genetic disorder is fundraising to set up a charity helping other families and researching to find a cure.
Konnie Newmark’s son, Jai, is thought to have been the first UK child to be diagnosed with FoxG1 Syndrome.
FoxG1 affects the development of the brain. Children with it have severe development delay, cognitive disability, epilepsy, lack of speech and mobility.
Jai, who goes to Larkrise School in Trowbridge, was diagnosed with the condition when he was two-and-a-half at St George’s Hospital, London.
Mrs Newmark, 47, said: “The geneticist had run out of ideas as to what was wrong with Jai. She presented at a conference in Cardiff and it was there that she heard of FoxG1.
“A test had been developed for it and it was found Jai had it. I knew nothing of the condition.
"I searched the internet and found children were being diagnosed with it in France. I got in touch with a mother of a child who had the condition in America.
“When I got the diagnosis it was a huge relief, as the first two years were extremely hard for me emotionally and not knowing what was wrong with Jai.
"I have reached the point with Jai that I feel very blessed, he has brought me to new people.”
In America parents have created the International FoxG1 Foundation and they know of just 80 children worldwide – including seven in the UK – who have the condition.
In the UK parents have been raising money to set up a UK sister foundation. So far they have raised £3,000 and need another £2,000 to register it as a charity.
Mrs Newmark, who moved with Jai and her two older children from London to Broadway, Market Lavington, 18 months ago, said: “Having a UK charity of the FoxG1 Foundation will raise awareness and hopefully get more funding for the research scientists to find a cure.
“There are other families out there who don’t yet have a diagnosis. We have a group on Facebook and it’s fantastic to be able to offer support.”
Mrs Newmark, a yoga teacher, and Jai’s nanny, Stacey Oliver, have organised a fundraising event on Saturday, July 5, at Mowbray House, Broadway, Market Lavington, from noon to 5pm.
There will be live music, a pets corner, pony rides, activity tents for various therapies, bouncy castle, barbecue and a unique installation piece of over 100 paper planes created by Mrs Newmark’s partner, Enrico Cazzaniga.
Tickets are £10 and can be bought in advance by calling Stacey Oliver on 07803 320225, or simply turn up on the day.