Tom Giles, a father of three from Bath, has undertaken an extraordinary journey to raise awareness about Phelan-McDermid Syndrome (PMS), an ultra-rare genetic condition diagnosed in just 3,500 people worldwide. His son Jenson, aged four, is one of the few affected by this little-known disorder.
Jenson appeared healthy at birth, but just two days later he became severely lethargic and was rushed to hospital, where he suffered a life-threatening collapse. Tom recalls the harrowing experience: “He stopped breathing and was placed on life support. My wife spent three weeks in the paediatric intensive care unit.” The family faced additional challenges due to Covid-19 restrictions, which limited hospital access and support.
Doctors struggled to pinpoint Jenson’s condition during those terrifying early weeks. “The journey to diagnosis was the hardest part,” Tom explains. Eventually, genetic testing revealed that Jenson has PMS, caused by changes to the SHANK3 gene—a gene critical for brain function.
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Individuals with PMS often face speech delays, insomnia, seizures, learning difficulties, low muscle tone, and sometimes autism-like symptoms. Though there is currently no cure, knowing the diagnosis was vital: “Without the gene tests, we probably still wouldn’t know what was wrong.”
Despite the challenges, Tom describes Jenson as “a loving and handsome boy who brightens every room, meeting challenges with determination and a smile.” Motivated by his son’s resilience, Tom set out to support CureSHANK, a charity dedicated to researching treatments and potential cures for PMS.
On June 27, Tom began an epic 250-mile run from Bath to Land’s End, Cornwall, passing through notable towns such as Glastonbury, Exeter, and Falmouth. He completed the journey on July 5, raising over £24,400 and inspiring global participation. Fundraisers sprang up in Argentina, Brazil, and Chile, turning “Run for Jenson” into a worldwide “Race for Research.”
Closer to home, the impact was just as profound. Tom’s six-year-old daughter even joined him to finish a leg of the race, with her school kindly excusing her from class. Through his run, Tom hopes to increase public and medical awareness of PMS and encourage more gene testing, noting, “Many people diagnosed with autism could potentially have PMS—and some aren’t diagnosed until adulthood.”
Above all, Tom and his wife focus on embracing Jenson’s unique spirit, refusing to view their situation with pity. Their positivity shines through their mission: “We see Jenson for who he is and are incredibly proud of him.”
Though the run is complete, Tom continues to welcome donations to CureSHANK, fueling the fight against this rare condition and supporting families like his own.