Dad’s hope to find cure for son’s rare condition affecting 300 others

A father whose son has been diagnosed with a condition only 300 people have in the world has launched a mission to find a “cure or life-changing therapy”.

Within days of Jenson’s birth he collapsed and was not expected to live. He was put on life support at Bristol Children’s Hospital where he spent the first few weeks of his life.

He was later diagnosed with incurable Phelan-McDermid Syndrome (PMS) which causes developmental delays. Since then his father Tom has been raising money for PMS research charity CureShank, and in June he ran nine marathons in nine days.

He said: “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,” said Tom, from Bath.

He and his wife Kim noticed that Jenson, now aged four, was not smiling, pointing, waving, sitting or crawling during his early years and he was eventually diagnosed with the rare condition.

PMS leads to a range of developmental and physical issues such as intellectual disability, delayed or absent speech, and symptoms of autism. It is caused by a mutation or deletion of the Shank3 gene found on chromosome 22.

Jenson was also found to have Ring 22, which has similar characteristics to PMS, and a heart disorder.

According to Tom, about 3,500 people in the world have PMS, and only 300 have both PMS and Ring 22.

He said: “We were lucky to get a diagnosis as quickly as we did because some parents don’t get one for a long time.”

It was difficult to get information as doctors knew little about how Jenson would be affected, Tom added.

The 34-year-old, who runs a sports agency, said: “He is still not walking or talking or eating by himself but we are trying to get him the right therapy and make sure he hits those milestones.”

Tom said Jenson was “funny, handsome and obsessed with cars, tractors and bikes”.

“He has a smile that would light up a room,” he added.

Tom completed his challenge to run nine marathons over nine days, starting on 27 June, raising £25,000 for Cureshank, which supports research into PMS.