New hope for 2 North Tyneside lads with rare genetic disease

There is new hope for two young North Tyneside lads who suffer from an incredibly rare genetic disease. Just last week, a new drug to treat Spinal Muscular Atrophy - the biggest genetic killer of babies - was approved in Europe. Spinraza was FDA approved in the US a year ago, and successful trials there have led Europe to accept it, now the battle for Ollie Crawshaw and Sam McKie and their families is to get the drug available on the NHS. It’s currently being trialled on 3 patients at the Life Centre in Newcastle We spoke to the boy’s dads – Rob and Gary, who tell us it’s hard knowing access for their sons could still be years away. Gary: “It’s heart-breaking to know that this drug is actually on our doorstep – within miles of our doorstep – that this drug is actually available now, “It’s not an experimental drug – the trials have finished and it’s been approved.” Rob: It’s exciting, very exciting, but also it’s difficult because in Europe and the UK it’s still going to be a long process potentially. “It could be the best part of a year before there’s any movement with the drug being available on the market.” Sam and Ollie both suffer Type 2 SMA, but it has different effects on both boys, Sam is reliant on his Powerchair and has to be fed through a tube, while Ollie can sometimes use a manual wheelchair and eats normally.

But as Rob tells us, it’s the dream of all parents of children with SMA to see them walk themselves; “When you ask him the thing he wants to do the most, he just wants to go to the park and kick a football around with his friends. “So we all have the end goal of our children being able to get up and walk, and the drug is showing signs on patients being able to do that.” SMA is a genetic disease, which is passed on when both parents carry a faulty gene. Rob and Gary tell me it is believed up to 1.5 million people in the UK could be carriers of the gene, but even if 2 carriers have a child, there’s still only a 1 in 4 chance of the condition being passed on.