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Skip to 0 minutes and 8 secondsSo my symptoms essentially are, I've always had very tight skin from birth. I've always had very poor flexibility in all my joints from birth. I've always been quite slight and quite slim for my age, and also quite tall. Around 12 or 13, type 2 diabetes kicked in, which obviously means I have to be slightly careful with what I eat. And I'm not great with high GI, sugary foods. At about the same time as the diabetes kicked in, I also lost a lot of my subcutaneous fat, whilst I also never had a huge amount. What I did have, essentially disappeared. And that's when I started to look a bit more gaunt and more skeletal in appearance, if you like.

Skip to 1 minute and 0 secondsHearing loss also kicked in around the onset of puberty - 12, 13 years old. My flexibility continued to deteriorate through my teenage years and what remained of the fat on the soles of my feet also disappeared. When I was younger, I used to do things like karate, which was obviously sort of barefoot in a school hall. I can't do that now. I can't walk barefoot anywhere, just because it's simply too painful. Even standing on a bare surface hurts too much. But since really sort of 18 or 19, things have remained fairly stable. My diabetes is very well managed. My lack of fat is basically managed with wearing appropriate clothing and having custom insoles to obviously help with the foot pain.

Skip to 1 minute and 57 secondsHearing loss is not deteriorating any further and the hearing aids I have now are very good, so it doesn't limit me in any way with sort of interaction and communication.

Skip to 2 minutes and 10 secondsAnd essentially - so everything's pretty much stable, really. Yeah, as far as I know MDP is caused by a spontaneous mutation on one very specific aspect of the genome. And I think - I want to say, POLD1, but I might be wrong, on chromosome 23. Something like that. And basically it, as far as I know, seems to affect the way that we utilise or metabolise fat when rewriting DNA. I may be completely wrong there. But basically, it's an abnormal distribution of fat, and with fat being such an essential component in the body, it has a knock on effect on lots and lots of different things.

Skip to 3 minutes and 5 secondsThe unifying characteristics, if you like, of MDP - as far as I know - are a small jaw, which is where the name MDP - mandibular dysplasia with deafness and progeroid features. Which obviously, often necessitates teeth overcrowding - small jaw, teeth, not enough space to fit them. I actually solved that - I wouldn't recommend solving it in this way - but I solved that by going through the windscreen of a car while cycling, and then they just removed my front teeth. And obviously the abnormal metabolism of fat means no subcutaneous fat under the skin.

Skip to 3 minutes and 49 secondsThe fact that you don't store fat under the skin, naturally predisposes you to store your fat in other places, including in the blood, which raises the triglyceride levels in the blood, which tricks your pancreas into thinking actually you're morbidly obese, and you should probably have type 2 diabetes, which is often the case. We don't know enough about it yet, but we feel that fat may be actually more necessary than we considered in the neurological connections between the ear and the brain. So that the abnormal fat metabolism has essentially given you a slightly faulty connection, which obviously results in hearing loss.

Skip to 4 minutes and 36 secondsThe lack of subcutaneous fat obviously means that-- as a defence mechanism the body starts to tighten the skin, particularly around the joints in order to essentially provide the protection that natural fat would have done in the first place, which is why flexibility is generally quite poor amongst people with MDP syndrome. Cell division is very slow. So rebuilding new tissue in things like wound healing - for example - are slightly slower with people with MDP syndrome then people without. Of course, the diabetes doesn't help either, because quite often diabetics will have reduced wound healing capability.

Skip to 5 minutes and 25 secondsAnd particularly for - depending on where you actually have the wound - obviously, the lack of subcutaneous fat may also be an issue, because if you have very, very tight skin that's stretching - obviously, if you're trying to close a wound and it's constantly being stretched outwards, then you're just basically two warring fronts trying to decide whether it needs to be closing up or stretching.

Tom’s story

We’d like to introduce you to Tom.

Tom is 26 years of age, he has two law degrees: an LLB Euro from the University of Exeter and a Master 1 (EU Law) from the L’Université de Rennes 11. He now lives in the South West of England and works in digital marketing. He is a paracyclist and is married.

Tom has always had tight skin and poor joint flexibility. He was diagnosed with diabetes and hearing loss at the age of 13 years. He has a small jaw (mandibular hypoplasia) and very little subcutaneous fat. In this first video Tom describes the symptoms of his syndrome (known as MDP syndrome) and how he manages these.

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This video is from the free online course:

Genomic Medicine: Transforming Patient Care in Diabetes

University of Exeter