Our 6 year old son, Tom, was diagnosed with Duchenne Muscular Dystrophy in December 2011 and our lives, and that of our wider family, have never been the same. There is now an ever present weight of sorrow carried by us his parents as well as grandparents, godparents, uncles, aunts, cousins and step-brothers.. Although our son is still mobile and despite daily physiotherapy, night splints and hydrotherapy, we cannot stop the onslaught of his ever tightening calf muscles which will eventually impinge upon his ability to walk.
Duchenne has impacted upon every aspect of our life. We are selling our house to buy and equip a bungalow to cater for Tom's future needs. I, his mother, will not resume a career as a lawyer so that I may spend as much time with Tom as possible and oversee a daily regime of physiotherapy, nutritional supplements, doctors appointments and school reviews. We want Tom to access the best schools that can cater for his current and future needs and so are limited geographically where we live. My husband has for the past year worked a demanding job in London away from the family so that we can save enough money for an early retirement so that he can care for Tom when the time comes that he is completely dependent on others for his very existence.
Tom can walk but he finds it difficult to run. He cannot keep up with his peers and chooses to play with the girls. We work hard to keep him resilient and encourage him to participate in activities which we always attend so that we can carry him and act as his legs. We know that this is as good as it is going to get for Tom and therefore want him to experience as much as he can now. But there is now an opportunity for this future to be arrested. Sareptas exon 51 skipping compound has, to our minds, shown great promise and nothing gladdens our hearts so much as watching video footage of the boys who participated in this trial. Apart from steroids and their ugly side effects (stunted growth, bone thinning, delayed puberty, increased risk of infection and cataracts etc etc) there is nothing currently available to give to Tom and we must simply sit and wait - wait for our gorgeous, creative, interested, loving son to be stripped of his skills and dignity.
We would gladly lay down our own life if it gave Tom a shot at a reasonably normal one. We agonisingly administer steroids just so that Tom hopefully can eke out an extra couple of years of walking. As a family we are prepared to accept a greater risk of side effects with a new drug if it shows to have some benefit for our son's mobility or cardiac health.
You have the power to help us and we respectfully ask that you do.