The man who can NEVER gain weight: Scottish teenager, 18, has ultra rare condition which prevents fatty tissue being stored under the skin and affects just 13 people worldwide
A Scottish teenager has revealed how his body is unable to store fat due to one of the rarest conditions in the world - which affects just 13 people worldwide.
Dylan Lombard, 18, from Glasgow, first developed symptoms of MDP - Mandibular Hypoplasia, with Deafness and Progeroid Features - when he was 18-months-old but wasn't diagnosed for a further 10 years after 'constant' doctors appointments.
The condition - which affects just one in six-hundred-million people worldwide - prevents fatty tissue from being stored underneath the skin, and results in a small lower jaw, ears, deafness and tightening of the skin.
Dylan revealed: 'Growing up it has been really tough seeing people staring, laughing and treating me differently, but I have learned to not let it affect me as I have gotten older.'
Dylan Lombard, 18, from Glasgow, Scotland, has opened up about his life with an ultra rare condition - which affects just 13 people worldwide - as his body is unable to store fat
The teenager started developing symptoms of MDP - Mandibular Hypoplasia, with Deafness and Progeroid Features - when he was 18 months old (left) but he wasn't diagnosed for a further 10 years after 'constant' doctors appointments (right)
Dylan said growing up was 'really tough' because people would be 'staring and laughing' at him because of his appearance
MDP syndrome is an extremely rare and complex condition and is only known to affect a handful of people in the world.
Dylan and other patients were found to have an abnormality in the POLD1 gene that gives rise to a defective enzyme crucial to DNA replication.He said: 'I was born with this condition, but it did not become visible until I was 18 months old.
'My mother was seeing me drop a lot of weight and became understandably very worried.
Dylan was born with the rare condition, but it did not become visible until he was 18-months-old (pictured left and right, as a baby)
The teenager was diagnosed after his mother noticed him drop a lot of weight and 'became very worried'
MDP syndrome: The extremely rare rare metabolic disorder that prevents fatty tissue from being stored underneath the skin and affects 13 people WORLDWIDE
MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin.
It is only known to affect a very small number of people worldwide.
Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective.
Symptoms:
- mandibular hypoplasia (a small lower jaw),
- deafness,
- tightening of the skin,
- lipodystrophy (a reduction in fat under the skin),
- low testosterone levels in males,
- contractures of the long tendons of the toes resulting in claw toes and joint stiffness.
In 2013, scientists diagnosed Tom Staniford, one of Britain's leading para-athletes, with MDP syndrome.
Tom, 31, was born at normal weight, but throughout his childhood and teenage years lost all the fat around his face and limbs.
Tom Staniford, 31, was born at normal weight, but throughout his childhood and teenage years lost all the fat around his face and limbs
His condition means he has no natural cushioning on his body, suffers from sore feet, and is at an increased risk of breaking bones in a fall.
Speaking to MailOnline in 2013, he said: '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,' he said.
'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.'
Researchers at the University of Exeter, where Tom studied law, compared the cyclist's entire genetic code with that of three other patients with the same symptoms. The DNA of their family members was also analysed.
Professor Andrew Hattersley, a Wellcome Trust senior investigator at the university's medical school, said: 'Tom's condition has been a puzzle to us for many years. We could see the symptoms, including the very unusual case of type 2 diabetes in someone with no obvious body fat, but did not know what was causing them.
'We had to look at 30 million base pairs (chemical components of DNA) in Tom's DNA, and similar numbers in his family members and other patients, to identify the single mutation. This would not have been feasible even a couple of years ago.''It took doctor's 10 years in order diagnose me with this condition after constant visits because of its obscurity.
'There is only 12 other people in the world who have MDP besides me, but when we got the diagnosis, we were just relieved because we finally knew what it was.'
The condition's physical effects have meant that Dylan has often experienced people staring or commenting on his appearance.
However he said: 'I surround myself with those who support me and love me for who I am which is the best feeling in the world.'
However despite the condition becoming apparent while Dylan was a toddler, it took doctor's 10 years in order diagnose him because of its obscurity
The condition's physical effects have meant that Dylan has often experienced people staring or commenting on his appearance
Dylan revealed that when he did finally get the diagnosis, he just felt 'relieved' that he knew what the condition was
Dylan now is incredibly passionate about spreading awareness for his condition and uses his platform to keep the public aware of MDP.
He explained: 'I think I am at a stage in my life where I just really want to help educate people about my condition.
'I love to tell my story, reach out and connect with people from all around the world.
'When I do, I honestly believe it makes me stronger and a more confident person.'
Dylan now is incredibly passionate about spreading awareness for his condition and uses his platform to keep the public aware of MDP
Dylan said he is 'at the stage in life' where he just really wants to help educate people about his condition (pictured)
MDP means that Dylan is not able to do take part in many physical activities like contact sports, but he managed to find his passion at the age of just 11 in photography.
Dylan explained: 'I was out walking on a rainy day and took a few pictures on my phone to show my parents which they were really amazed by.
'They encouraged me to take more, and I have been snapping ever since.
'At 15, my mum bought me my first camera and I haven't looked back since, photography is just the most incredible thing to me.'
He said he 'loves' to tell his story and 'connect with people from all around the world' because when he does it 'makes him a stronger person'
MDP means that Dylan is not able to do take part in many physical activities like contact sports, but he managed to find his passion at the age of just 11 in photography (pictured with his photographs)
Dylan takes his inspiration from his city, capturing the essence of Glasgow through his perception.
He added: 'The weather may not be the best, but I love living in Scotland.
'I am certainly Glaswegian and proud, and I love showing what my city has to offer.
'When I take a photo, it stays with me forever and that feeling is just indescribable.'
The teenager believes that nobody should 'ever be afraid of who they are', and that it is 'important to just keep doing what makes you happy'
Dylan takes his inspiration from his city, capturing the essence of Glasgow through his perception (pictured with his camera)
Dylan believes that everybody, no matter who they are, has the ability to be the best version of themselves
Dylan believes that everybody, no matter who they are, has the ability to be the best version of themselves.
He said: 'I am a lot more than just my condition, which is why I feel it is so important to share my story.'
'Nobody should ever be afraid of who they are, and it is important to just keep doing what makes you happy.
'Perseverance is key, never give up.'
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