Tom Staniford, age 32, was diagnosed with MDP syndrome at 23, when the condition was recognized in 2013. Tom hopes that one day all those with disabilities will be judged by their abilities alone.
Tom Staniford, age 31, was diagnosed with MDP syndrome at 23 years old. MDP Syndrome is a de novo mutation on the POLD1 gene on the 19th Chromosome. In simple terms, this genetic ‘spelling mistake’ means that the body cannot process fat normally. As fat is intrinsic to so many biological processes, multiple functions and systems of the body are affected, leading to sensorineural hearing loss, type 2 diabetes, lack of subcutaneous body fat, connective tissue contractions, and endocrine imbalances.
MDP is a genetic condition, so it is present from birth. Symptoms are progressive as the effects of the unusual fat metabolism become more pronounced over time. Tom had tight skin from a very young age, but only lost his hearing and fat from his face and gained diabetes at about 12 or 13 years old.
MDP syndrome, as a condition, was not recognized until 2013. Until Tom was diagnosed, he felt frustrated nobody could explain the cause of his various symptoms. Unable to discover the root cause, he focused on practical treatments and changes he could make to improve his quality of life.
Tom admits that he received world-class healthcare support from the NHS. He met many wonderful people working compassionately and professionally to care for others. There are limits, however, he says, to what a nationalised health service can do for rare and unusual conditions- particularly ones as rare as his. Therefore, while the provision of general practical healthcare is possible, questions over diagnosis, research, and treatment of less common conditions are much more difficult.
Currently, Tom has custom insoles and shoes for his feet, hearing aids for his hearing loss, metformin tablets for diabetes, and quarterly injections for low testosterone. Diet and exercise are fundamental to his quality of life, and he can’t walk at all without his custom footwear. Even with it, his feet are very painful due to ligament contractures, warped bones, and having no fat on the soles. His greatest hope is to live a life where he is fairly judged on his abilities and not his disabilities.
Today, Tom works as a Digital Marketing Consultant in the UK, and has been happily married to Alice since 2015.
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