Tom suffers with a rare disorder that has only been documented in 8 people worldwide

Jun 18, 2013 07:11 GMT  ·  By
Scientists diagnose man who can't get fat, say he is suffering with a rare genetic condition
   Scientists diagnose man who can't get fat, say he is suffering with a rare genetic condition

Not being able to put on weight might sound like a dream to some people, but for 23-year-old Tom Staniford, one of Britain's top para-athletes, it's more of a nightmare.

When Tom was born, he had a normal weight. However, as the years went by, his body started to shake off the fat stored around Tom's face and inside his limbs.

Because Tom's muscles and bones no longer have any cushioning to protect them, the 23-year-old constantly has sore feet and risks badly breaking his bones whenever he falls down.

Tom's hearing also deteriorated to a considerable extent when he was only a child, which is why he must now wear hearing aids.

What's interesting is that, despite the fact that his body packs virtually no fatty tissues, Tom Staniford has type 2 diabetes.

He developed this condition because the make-up of his blood is similar to that of an obese person.

More precisely, tests have shown that the man has fairly elevated levels of fat in his blood, Daily Mail reports.

Researchers writing in the scientific journal Nature Genetics detail how, after carrying out several tests, they managed to figure out what was wrong with Tom.

The diagnosis Tom Staniford got is MDP syndrome. Specialists explain that this is a very rare condition triggered by a single gene mutation.

The condition is so rare that, till present day, is has only been documented in 8 other people worldwide, the same source informs us.

“This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males,” the researchers write in the Abstract for their paper.

Although treating MDP syndrome is pretty much out of the question, Tom Staniford is happy that doctors have finally managed to diagnose him.

He says that this makes him feel more at ease and that, now that he knows exactly what is wrong with him, it will be easier for him to take part in various competitions.

“In some ways, identifying the syndrome behind my symptoms shouldn't be important - a name is just a name, after all – but it is reassuring to know that there are other people with the condition and that we can lead relatively normal lives.”

“What could prove crucial, though, is enabling me to be properly classified in competitions so that I am not competing at an unfair disadvantage against others. I hope to be able to compete for Great Britain in the 2016 Paralympics and this finding could make a real difference to my chances,” Tom Staniford reportedly said.