Over the last 10 months, our family has faced one of the hardest times in our lives. On April 21, 2025, Ellis was officially diagnosed with Phelan-McDermid Syndrome (PMS), a rare genetic disorder — and everything changed.
Nothing prepares you to hear that your child has a condition you’ve never even heard of. The questions were constant, the uncertainty overwhelming, and the future suddenly looked different than we had imagined.
So, what is Phelan-McDermid Syndrome?
Phelan-McDermid Syndrome is a complex genetic condition caused by a difference on the 22nd chromosome that affects brain development and function. It leads to intellectual and physical disabilities that vary from person to person.
Some individuals with Phelan-McDermid Syndrome lose essential developmental skills, and many require lifelong care and ongoing medical support. It is a condition that impacts not only the individual but their entire family.
What am I doing?
To help make a difference, my brother and I are taking on the TM5 Challenge — walking or running up Table Mountain in Crickhowell, Wales, up to five times in 10 hours.
Each circuit is:
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4.5 miles
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1,250 feet of ascent
The challenge takes place on Saturday 7th March as part of the Crickhowell Walking Festival, which is also raising money for Velindre Cancer Centre.
Who am I raising money for?
All funds raised will go directly to the Phelan-McDermid Syndrome Foundation (PMSF). Their mission is to improve the quality of life for people affected by Phelan-McDermid Syndrome worldwide by:
If you would like to learn more about Phelan-McDermid Syndrome, please visit:
www.pmsf.org
Thank you so much for your support — it truly means everything to our family.