A mum of five is taking on a charity run to raise funds to send a UK doctor to an American conference focussing on the genetic condition affecting her son
Lisa Smith 37, of Gosberton, is part of the eight-strong Childhood Tumour Trust (CTT) team taking on the ASICS London 10k in July, seeking to raise £4,000 to send a doctor from the UK to the Neurofibromatosis conference in the USA for specialist training.
Lisa’s eldest son Daniel Barnes (12) suffers from the condition – known as NF1 – which has caused growths on his brain and skin and may cause them along his nerves too. The disease can also lead to problems with the bones, eyes and nervous system.
It was several years before Daniel was diagnosed and further complications meant he also developed Hydrocephalus – too much fluid on the brain – and had to undergo life-saving surgery to have a shunt valve fitted to drain the excess away.
Daniel has since undergone numerous life-saving brain operations and replacement shunt procedures and although he is currently stable, Lisa says he will be shunt-dependent for the rest of his life.
“Daniel was six when he was finally diagnosed, after we’d be back and forwards to the doctors and health visitors numerous times.
“He was missing all his milestones and it was just clear there was a neurological problem,” recalls Lisa, an artist.
“He had all the signs including birth marks on his skin but I was told this was just pigmentation, he was never referred to a dermatologist.
“NF1 is the most common unheard of genetic disorder and affects a lot of children in lots of different ways. If Daniel had undergone an MRI scan sooner it might have been picked up more quickly.
“There is such a huge gap in the diagnostic knowledge, so many children are missed off the radar, that’s why we want to raise the funds to send a UK doctor to a specialist conference in America where there is much greater knowledge about it.”
Due to his ongoing treatment Lisa says Daniel’s education and academic progress have been affected, but the local authority has supported him with an Education and Health Care Plan, and along with husband James she is determined he should live as normal a life as possible.
Lisa added: “It’s hard, he’s such a lovely, lovely boy, but he suffers memory loss, fatigue and gets exhausted quite easily and he just finds everything very difficult, although he always tries his hardest.
“We don’t know anyone else with the condition, but I’m sure there must be others locally. We just want to help raise awareness about it.
“There are eight of us taking on the run for CTT – so ideally we’re trying to raise around £500 each. If there are any local businesses, or individuals out there who would like to sponsor us we’d love to hear from you.”
posted Saturday June 8th