Next week is Rare Disease Day (28th Feb) and Action Medical Research have a new appeal focusing on 7 year old Tom who has Duchenne muscular dystrophy.
I wanted to share this appeal because when I was little, I had a friend called Steven Watson who had Muscular Dystrophy - I don't know if it was this same type as Tom or not.
Steven Watson and I became friends at the age of 4 when we started Primary school and remained good friends through out primary - we were still friends, although not as close when we went on to the same secondary school. I can remember Steven running around in the infants just the same as everyone else, I can remember when he started needing crutches and then a wheelchair everyday and the way he laughed his socks off when he accidentally fell out of his wheelchair playing rounders with everyone else and I can remember when he had a shiny new electric wheelchair for secondary school, the one thing that never deteriorated was his smile and his kindness.
I remember when he died, my first friend to pass away I think we were about 17 then.
Steven Watson from Lancaster - my original home town - is on my mind a lot, he is remembered and that is why I wanted to help spread the word of Tom's story and the Duchenne Muscular Dystrophy appeal from Action Medical Research.
Spring has sprung for children like Tom as children’s charity launch an appeal around Rare Disease Day
More than 1.75 million children and young people in the UK have a rare disease – and thirty per cent will die before they reach the age of five. Children’s charity Action Medical Research, have launched a Spring appeal, tying in with the theme of Rare Disease Day (28 February), to highlight the need to fund vital research into devastating diseases for which there are often no cures.
The current appeal focuses on seven-year-old Tom who has Duchenne muscular dystrophy, but this is just one of the 20 studies tackling rare diseases that Action Medical Research is currently financing. These also include neuroblastoma (a type of cancer), ataxias, Smith-Lemli-Opitz syndrome, primary ciliary dyskinesia (PCD), brittle cornea syndrome, mitochondrial disease, Sanfilippo IIIB, lysosomal storage diseases, X-linked lymphoproliferative disease and severe anaemia.
Duchenne muscular dystrophy is a devastating condition that’s diagnosed in around 100 boys every year in the UK – typically when they are just three to five years old. Boys with the condition experience a relentless deterioration of their physical abilities, eventually becoming heavily dependent on others for round-the-clock care. There is no cure and the condition is fatal.
Tom (seven) was diagnosed with Duchenne when he was four, but his parents were concerned about him from his earliest days. “The health visitor stressed the importance of ‘tummy time’ to help Tom lift his head, but he couldn’t do it. He just screamed,” mum Rebecca remembers. “He was slow to reach milestones like crawling and walking, too.”
When Tom started school, Rebecca insisted on a referral to a paediatrician who explained that several conditions might be causing Tom’s problems, including mild cerebral palsy and dyspraxia. He asked to do a blood test ‘to rule out a couple of rare conditions’ but phoned at 9.00am the next day with devastating news: Tom had muscular dystrophy.
New types of gene therapy may be able to treat some but, at present, not all boys with Duchenne.
Researchers, led by Professor Volker Straub, of Newcastle University, and funded by Action Medical Research, are in the laboratory stages of testing a much-needed new treatment – with the ultimate hope of improving boys’ lives.
“For Tom this research could mean he walks and keeps upper body skills such as feeding himself for longer, giving him a better quality of life. I know it’s not a cure, but these potential treatments still mean everything to us, they give us hope and they might give us time. They take us a step closer to finding out more about this rare disease” says Rebecca.
Watch this short film about Tom’s story:https://www.youtube.com/watch?v=VWL2oGDeiKA&feature=youtu.be
Action Medical Research also funds research tackling premature birth, treating sick and vulnerable babies, and helping children affected by disability, disabling conditions and infections.
If you’d like to donate to the Spring rare diseases appeal visit
Emma in Bromley xx