Our son Edward was diagnosed with Duchenne muscular dystrophy (DMD) when he was 3 years old. He’s now aged 14. We learnt that this is a genetic condition, which basically means that there’s an absence of dystrophin, a protein that helps keep muscle cells intact. It’s mainly characterized by progressive muscle degeneration and weakness.
Since his early diagnosis, we have also learnt that I, his mother, am a carrier of the defective gene, but our two older sons have not been affected.
Most of Edward’s treatment takes place at a hospital in Newcastle – we did our research and opted to go to a hospital outside our hometown. The hospital is a centre of excellence, and the neurological team there have experience in treating other children with DMD or similar conditions. We naturally wanted the very best for Edward and they have been absolutely fantastic.
It was through the team at Newcastle that we first heard about the ESSENCE study. We were told that the study was looking to recruit boys, between 7 to 13 years of age, with DMD and we thought it made perfect sense to give it a go. Edward had to undergo tests to see if he was suitable, and that was nearly a year ago now. The trial is a double-blind, placebo-controlled infusion, and over a 3-4 year period they’re testing the effectiveness of two new drugs.
Edward visits the team at the Leeds Clinical Research Facility every week, usually for around three hours. During this time, in addition to administering the drugs, the research team also occasionally collect blood samples to assess how both drugs are working in the body.
We aren’t frightened by the process at all, it feels very safe and we are aware and informed of everything that takes place. From the start, the trial was fully explained to Edward, us as his parents and the family and we have extreme faith in the clinical team and what they’re trying to achieve. I honestly believe that clinical trials should be encouraged to everyone, as you never know what’s around the corner. Of course we have a personal interest in the ESSENCE study and how it may help Edward and the quality of his life in years to come, but we hope it benefits others too. And that’s a great feeling.
There’s a lot happening in the world of research and clinical trials for Duchenne muscular dystrophy and yet there’s so much more to be done. So anything we can do as a family to help accelerate the research is a positive thing – not only for us and our son, but for the other individuals and their families who are also given this devastating diagnosis.
Heidy and Paul Ackroyd