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Tiny Fighter's Rare Syndrome Ignites Research Drive
6 Feb
Summary
- Jenson was diagnosed with Phelan-McDermid Syndrome at just three weeks old.
- PMS is a rare genetic disorder affecting an estimated 300 people worldwide.
- The family aims to raise awareness and fund research for a potential cure.
At just two days old, Jenson experienced a life-threatening collapse, later diagnosed with Phelan-McDermid Syndrome (PMS), a rare genetic disorder. This condition, affecting an estimated 300 individuals worldwide, can lead to developmental delays and communication difficulties. Jenson's parents, Tom and Kimberley Giles, were shocked by the diagnosis but quickly adopted a positive mindset.
Further tests in 2022 confirmed Ring 22, a condition that exacerbates Jenson's PMS. Despite missing developmental milestones, Jenson is making progress, learning to stand and communicate. His parents are dedicated to giving him a voice and raising awareness for PMS, for which there is currently no cure.
Tom Giles has previously undertaken significant fundraising efforts, including running nine marathons in nine days to raise £25,000 for research. With recent clinical trials exploring gene therapy for PMS, there is a growing sense of optimism for Jenson and other affected individuals. The family remains focused on improving Jenson's quality of life and finding ways for him to express himself.
