Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.
Our guest today is discussing her son's condition where he has twice the normal myostatin in his body. It is possible that he is the only living person with this particular disorder, thereby officially kicking off our "Rare-Diseases Segment" of PodcastDX
Shari Graber knew, without a doubt, her son was special the day he was born. From her hospital bed, she saw her infant, only hours old, lift his head from his bassinet in the hospital room and look around the room! "No one would ever believe me" she thought to herself- and Dylan's life began with gusto!
Kevin and Shari met in 2001 and married in 2003. We were introduced to each other from their grandmothers, and as they say the rest is history! Kevin works as a senior principal IT business analyst at Medtronic (the medical device company, diabetic division). Shari has been an RN since 2003 working in the psychiatric field, case management, medical/surgical and telemetry units in the hospital, quality management in the hospital and working closely with the dementia/Alzheimer population. In 2006 they were overjoyed for the arrival of their first born, a son, Dylan. In 2009 they welcomed their daughter Mackenzie into the world.
When Dylan was born they noticed his appetite was voracious, had large massive muscles with not an ounce of fat, and very strong. His peers did not appear with the same physique as he did. This started their journey, to find The source of Dylan’s strength.