Tom Giles, a father of three from Bath, has undertaken an extraordinary mission to raise awareness about Phelan-McDermid Syndrome (PMS), an ultra-rare genetic disorder affecting only around 3,500 people worldwide. This summer, Tom ran an impressive 250 miles from Bath to Land’s End, championing a cause deeply personal to him—his four-year-old son, Jenson, who was diagnosed with PMS.
Jenson appeared healthy at birth, but just two days later, he became “unbelievably lethargic” and was rushed to hospital following a collapse. Tom recalls the harrowing ordeal: “He stopped breathing and was put on life support. My wife spent three weeks in the paediatric intensive care unit.” The ordeal was made even more difficult by strict COVID-19 hospital restrictions, which limited family support at a critical time.
For weeks, doctors struggled to identify the cause of Jenson’s condition. “The uncertainty was excruciating. The journey to diagnosis is often the hardest part,” says Tom. Eventually, genetic testing revealed that Jenson has PMS—a condition caused by changes in the SHANK3 gene, which affects brain function. Symptoms vary but often include speech delays, seizures, learning difficulties, hypotonia, and characteristics similar to autism.
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Currently, there is no known cure or treatment for PMS. Without gene testing, Jenson’s diagnosis might have remained elusive for much longer. Despite the challenges, Jenson shines as “the most loving and handsome boy,” who approaches life’s hurdles with determination and a smile.
Motivated by his son’s resilience, Tom decided to raise funds for CureSHANK, the charity dedicated to researching a cure for PMS. His route spanned notable locations including Glastonbury, Exeter, Falmouth, and Penzance. Upon completing his journey on July 5th, Tom had raised over £24,400 and sparked a global movement, with supporters in Argentina, Brazil, and Chile hosting their own charity runs.
Closer to home, the community response has been heartwarming. Jenson’s six-year-old sister even received permission to join Tom for part of a race during school hours. Tom hopes his efforts will educate the public, encourage broader genetic testing, and ultimately lead to earlier identification of PMS, which sometimes remains undiagnosed well into adulthood.
Reflecting on their journey, Tom shares, “Researchers believe many diagnosed with autism could have PMS. Some people don’t get diagnosed until they’re 20.” Above all, he and his wife remain optimistic, embracing Jenson for who he is without pity.
Although his run has ended, Tom continues to accept donations for CureSHANK, inviting others to support research that could unlock a future cure.