Spring has sprung for children like Tom | Action Medical Research

Spring has sprung for children like Tom

23 February 2015

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 30 per cent will die before they reach the age of five. 1 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. 2,3 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. (Read more from Rebecca’s blog http://www.action.org.uk/blog/2015/02/11/hope-darkness )

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 http://www.action.org.uk/rare

- ENDS -


High res pics can be downloaded from these links:

http://www.action.org.uk/sites/default/files/downloads/press/dsc_0019.jpg  Family shot, from left back: Dad (Gary), Mum (Rebecca), Tom, Amy

http://www.action.org.uk/sites/default/files/downloads/press/dsc_0128.jpg   Tom


1. Annual report of the Chief Medical Officer 2012. Our Children Deserve Better: Prevention Pays. Department of Health. October 2013. https://www.gov.uk/government/uploads/system/uploads/attachment_data/fil...
2. Muscular dystrophy campaign. Duchenne muscular dystrophy. http://www.muscular-dystrophy.org/about_muscular_dystrophy/conditions/97... Website accessed 10 February 2015.
3. National Institute of Neurological Disorders and Stroke. NINDS Muscular Dystrophy Information Page. http://www.ninds.nih.gov/disorders/md/md.htm Website accessed 10 February 2015.

For further press information on Action Medical Research please contact:

Jules Robinson, Interim Press and PR Officer

T: 01403 327423

E: jrobinson@action.org.uk

W: action.org.uk

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Action Medical Research is a UK-wide charity saving and changing children’s lives through medical research.

We want to make a difference in:

  • tackling premature birth and treating sick and vulnerable babies
  • helping children affected by disability, disabling conditions and infections
  • targeting rare diseases that together severely affect many forgotten children.

Just one breakthrough, however small, can mean the world.                            

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