A Sheffield family whose baby boy has an extremely rare degenerative disorder say ‘time is against us’ in the race to find a cure.
Sonny Mcilroy-Wright was diagnosed just last week with KIF1A Associated Neurological Disorder (KAND), a genetic disease which is so rare there are fewer than 200 known cases worldwide.
No cure or treatment yet exists for the progressive condition, only discovered in 2011, which can rob people of their ability to walk, talk and see before killing them.
Sonny’s parents Jessica Kilcommons and Elliot Mcilroy-Wright, of Gleadless, say one of the hardest things is how little is known about the disorder and what the future holds for the 17-month-old.
They are desperately trying to raise the funds to join families from across the world affected by KAND at a conference in New York this August, where pioneering scientists will carry out research in an attempt to unravel the condition’s secrets.
Jessica said: “We were devastated when we got the diagnosis. We knew something wasn’t quite right but we didn’t know it was going to be something like this which is life-threatening.
“You're left almost in the dark because so little is known about the condition, and you become the experts.
“Sonny might walk and talk one day but even if that happens this degenerative condition means that could be taken away from him at any time.
“Time’s against us. We don't know how long we’ve got, and we have to take things one day at a time.
“Bringing everyone together for this conference is our best hope of finding a halt or a cure to stop this disease from taking our children’s lives.”
The neurological condition is caused by mutations in the KIF1A gene, which plays a vital role in the brain's functioning.
It affects people in different ways and to different degrees but, according to the KIF1A.org foundation which was set up by parents to find a cure, it can cause problems with memory and thinking, loss of coordination and balance, weakness of the legs, visual impairment and epilepsy.
Jessica says it became clear something was wrong when Sonny was around four months old and his eyesight wasn’t developing as expected, but it took many months of tests before he was finally diagnosed last Thursday, February 14.
Today, his vision is still impaired and although he is crawling and can ‘cruise’ using furniture to pull himself along, he has very poor balance and low muscle tone.
He also has what are known as ‘absences’, where he will stare into space for up to 30 seconds at a time, which his parents believe may be a sign of epilepsy.
Despite Sonny’s challenges, Jessica said her ‘lovely’ boy is ‘always smiling’ and ‘adores people’, but he and the other youngsters affected are relying on the public’s generosity to help defeat the cruel disease.
“Dr Wendy Chung, who’s leading research into the disease, is putting sweat, blood and tears into saving our children. It's important as many of us as possible can be there this August to help in the race find a cure, and we’re so grateful for any support,” added Jessica.
To donate, visit the Sonny’s Dream Cure fundraising page on Facebook.
For more information about the condition, visit www.kif1a.org.