A man who is unable to gain weight and also suffers from type 2 diabetes has finally discovered the cause of his rare and mysterious ailment.
Scientists have identified MDP syndrome in British Paralympic athlete Tom Stanford, a disease caused by a single genetic mutation that causes seemingly unrelated health problems.
Tom, 23, was born with a normal weight, but as he grew up, he lost all the subcutaneous fat on his face and limbs. His illness means that the body is deprived of its natural depreciation. The man suffers from pain in his legs, and in the event of a fall, Tom's risk of breaking a bone is significantly higher than that of ordinary people.
However, Tom's blood fat levels are unusually high, as if he were obese. This is what led to the development of diabetes. Tom's hearing also deteriorated as a child and now wears hearing aids.
Tom hopes that the new diagnosis will allow doctors to more accurately choose the treatment, and he will have a chance of recovery. Now the man is participating in the qualifying competitions, if he wins, he will represent Great Britain at the Paralympic Games in Rio in 2016.
MDP syndrome is an extremely rare and complex disease. Currently, only eight cases of the disease are known in the world. Tom and other patients were found to have abnormalities in the POLD1 gene, which alters an enzyme that plays an important role in DNA replication.
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Researchers at the University of Exeter compared the cyclist's genetic code to that of three other patients with the same symptoms, and also looked at the DNA of his family members.
Professor Andrew Hattersley said: “Tom's illness has been a mystery to us for years. We could see the symptoms, including a very unusual case of type 2 diabetes in a person with no body fat, but we didn't know what was causing them. We had to look for the answer in Tom's 30 million DNA pairs. A couple of years ago it was impossible."