British paracyclist Tom Staniford has discovered he is one of just eight people in the world with a rare syndrome.
Staniford, 23, is unable to store fat under his skin, losing all the fat around his face and limbs during childhood (despite) having been born a normal weight, the BBC reports.
In spite of his wasted frame, Staniford's body thinks he is obese, meaning he has type 2 diabetes. His hearing also became impaired in his childhood, requiring him to wear hearing aids since the age of 10.
Staniford’s condition - MDP syndrome - was not identified until recently, when a research team went to work mapping and analyzing his DNA, in a quest to isolate the gene mutation responsible.
This was only possible after a second person with the same condition was found.
Using the most recent genome sequencing technology, scientists from England, India, Italy and the US were able to identify the single genetic mutation responsible for the rare condition.
“All Tom's features can be explained by this one specific change,” said Exeter University scientist Professor Andrew Hattersley, who believes the genetic mutation would have occurred in Staniford’s father’s sperm very early in Staniford's life.
Staniford has not let the condition hold him back from achieving several goals, including being British national paracycling circuit race champion in 2011, as well as a degree in law and French.
He hopes to become Paralympic circuit race champion at Rio 2016.
Staniford does concede, however, that his condition presents particular challenges to training: “I have just 40 percent of the muscles of an average male. I struggle to metabolize sugar and carbohydrates efficiently due to the diabetes - and I struggle to recover due to lack of immediate fuel sources, low testosterone etc.
“My muscles have a very narrow margin of efficiency and they're also tight, stiff and inflexible because I don't have fat to perform that role.
“This is why I have to constantly experiment and attempt to find, through trial and error, what works.”
Staniford is not one to dwell on the rarity of his condition, but says: “[It] is reassuring to know that there are other people with the condition and that we can lead relatively normal lives.”
source : http://www.foxnews.com/health/2013/06/18/scientists-discover-why-man-stores-no-fat-under-skin/