By Claire O'Hanlon
"Little bit of background - I've always been really shy but in May 2012 my then 13 month old son, Luke, was diagnosed with Duchenne Muscular Dystrophy - this is a progressive and life shortening muscle wasting condition - my brother died from the condition when he was just a month past his 16th birthday and my mum lost 3 brothers to the condition when they were 16,17 and 19.
Luke is a lively little boy and full of devilment. He struggles to keep up with his younger brother, has some bother getting up from the floor and with climbing and going up stairs. The prognosis for Duchenne means that Luke will likely be a full time wheelchair user before he leaves primary school, his upper body then then become affected so that he won't be able to lift his arms and he will essentially become paralysed. By his late teens to early twenties the muscles of his heart and lungs will become affected so much so that they will not be able to sustain life.
Obviously when Luke was diagnosed I was completely devastated but I made the decision that I could wallow in self pity which would be no use to anyone or I could accept that this was about Luke and not me and I could put the energy into doing what I could to change what having Duchenne would mean for Luke and other boys with the condition. So I started a fundraising group called "Leap for Luke" and so far have raised around £100,000 for research into Duchenne, I have travelled to the US to help families campaign for access to a drug which would hopefully lead to follow on approval by the European Medicines Agency (this drug would not help my son but it's approval would set a precedent for future approval of a drug that could help Luke).
I have travelled to Barcelona to take part in the EURORDIS Summer school which educates patient representatives on drug development processes and advocacy. I became involved in campaigning for improved care for people with neuromuscular conditions in Northern Ireland and am current chair of the NI Council of MDUK which leads the charity's priorities in NI. I have also became involved in meetings to look into how we could develop clinical trial capacity in NI - There has never been a treatment for Duchenne but there is a pipeline full of potential treatments but all clinical trials are in England which can put taking part in trials out of reach for families in NI.
Luke is currently participating on an intensive clinical trial in Newcastle and he and I get up at 4.30am every Monday morning to travel to Newcastle for an infusion which may be a drug that could slow down his condition or could be a placebo. We are currently approaching week 33 of a 144 week trail so we have quite a bit to go yet and Luke is just amazing - taking it all in his stride despite the sacrifices he has to make to take part and help future generations of boys with Duchenne.
Throughout all of this I'm trying to still work, take Luke on his trial and do my voluntary work with Leap for Luke. My mother was my constant support through all of it, staying in my house on Sunday nights to get my other son up for school and keeping the boys while I work etc. Unfortunately she took ill in December and sadly passed away leaving a big void.
There's probably a lot more to the story than this but I don't want to bore you lol. But I guess basically the story is how a tragic event can change a person from being quiet and shy to realising that some things are bigger and more important to them. Saving Luke and other children with Duchenne is my passion and I can't stop until. Through all of this I remain really positive that we can change this. I realise the story sounds depressing but actually it's positive and if you want to follow us on our journey do so here: https://www.facebook.com/LeapForLuke/
Thanks for reading,