Runner Raises Over £9,000 for Smith-Magenis Syndrome

Paul Williamson has always been a fiercely proud father and an advocate for the rare disease community. His son James was born with Smith-Magenis syndrome (SMS), a rare genetic developmental disorder. According to the Whitchurch Herald, Riding for the Disabled (RDA), a charity, has helped support the Williamson family for 10+ years. Now, over the past two years, Paul has raised over £9,000 ($12,274) to support the RDA by running in the London Marathon. 

Interested in donating to support Paul’s cause? You can donate here.

Smith-Magenis Syndrome (SMS)

Smith-Magenis syndrome (SMS) is a rare developmental disorder which affects multiple organs throughout the body. Typically, a deletion of genetic material from chromosome 17 – and a specific deletion of RAI1 – causes Smith-Magenis syndrome. However, in rare cases, RAI1 gene mutations may also be the cause. These mutations or microdeletions happen spontaneously; SMS is not inherited and many patients do not have a family history of the condition. Smith-Magenis syndrome is highly variable and presents with a wide variety of potential symptoms and characteristics. These include, but are not limited to:

  • A short, flat head with a large forehead and a broad, square face
  • Deep-set eyes
  • Disrupted sleep patterns
  • Scoliosis (abnormal spinal curvature)
  • Macroglossia (large tongue)
  • Impulsivity or hyperactivity
  • Poor muscle tone and reflexes
  • Reduced pain and temperature sensitivity
  • Absence of permanent teeth
  • Short stature
  • Intellectual disability and developmental delays
  • Lethargy
  • Hoarseness
  • Bruxism (teeth grinding)
  • Frequent or repeated ear and sinus infections
  • Hearing loss

Riding for the Disabled

According to the Riding for the Disabled (RDA) website:

our horses benefit the lives of over 25,000 disabled children and adults. With fun activities like riding and carriage driving, we provide therapy, fitness, skills development and opportunities for achievement – all supported by 18,000 amazing volunteers and qualified coaches at nearly 500 RDA centres all over the UK.

James has been working with the RDA for over 10 years now. When he first began participating in the RDA, he was nonverbal and used a walking frame for mobility assistance. Now, after participating in physiotherapy sessions while on the horse, James has stronger social and communication skills, and has also improved his strength, stability, and walking ability.

Being able to support the RDA, and raise awareness of his son’s condition, has been invaluable to Paul.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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