Father’s Mission for Rare Disease Research

A father is on a quest to find a “cure or life-changing therapy” for his son diagnosed with a rare condition that affects about 300 people globally.

Shortly after his birth, Jenson experienced a collapse and was not expected to survive. He received life support at Bristol Children’s Hospital during those critical early weeks.

Later, he was diagnosed with Phelan-McDermid Syndrome (PMS), which causes various developmental delays. Since then, his father, Tom, has been actively raising funds for CureShank, a charity focused on PMS research. In June, he took on the incredible challenge of running nine marathons in just nine days.

Tom expressed his hopes: “I hope they find a cure or life-changing therapy that significantly improves Jenson’s quality of life.”

“We were told he had very little chance of survival, but he powered through,” Tom recounted, hailing from Bath. He and his wife, Kim, observed that Jenson, now four, wasn’t smiling, pointing, sitting, or crawling during his formative years before he received his diagnosis.

PMS is known to lead to a range of developmental and physical challenges, including intellectual disabilities, speech delays, and even autism symptoms. This syndrome is caused by a mutation or deletion of a gene called Shank3 located on chromosome 22.

Jenson was also diagnosed with Ring 22, which has some overlapping characteristics with PMS, in addition to a heart condition. Tom noted that around 3,500 individuals in the world have PMS, and just 300 people have both PMS and Ring 22.

He mentioned, “We were fortunate to have received a diagnosis as quickly as we did because some parents wait a long time.” Accessing information about Jenson’s condition was a challenge, as medical professionals had limited knowledge about how it would affect him, according to Tom.

At 34, he operates a sports agency and remarked, “He is still not walking, talking, or eating independently, but we’re focused on securing the right therapies to help him achieve those milestones.”

Describing Jenson, Tom said he is “funny, handsome, and obsessed with cars, tractors, and bikes.” He added, “He has a smile that would light up a room.” Through his athletic challenge, Tom raised £25,000 for CureShank, supporting continued research into PMS, which he hopes will benefit his son and others facing similar battles.