Cool Videos: Myotonic Dystrophy
Posted on by Dr. Francis Collins
Today, I’d like to share a video that tells the inspirational story of two young Massachusetts Institute of Technology (MIT) researchers who are taking aim at a genetic disease that has touched both of their lives. Called myotonic dystrophy (DM), the disease is the most common form of muscular dystrophy in adults and causes a wide variety of health problems—including muscle wasting and weakness, irregular heartbeats, and profound fatigue.
If you’d like a few more details before or after watching these scientists’ video, here’s their description of their work: “Eric Wang started his lab at MIT in 2013 through receiving an NIH Early Independence Award. Learn about the path that led him to study myotonic dystrophy, a disease that affects his family. Eric’s team of researchers includes Ona McConnell, an avid field hockey goalie who is affected by myotonic dystrophy herself. Determined to make a difference, Eric and Ona hope to inspire others in their efforts to better understand and treat this disease.”
Learning About Myotonic Dystrophy (National Human Genome Research Institute/NIH)
NIH Common Fund Video Competition
NIH support: Common Fund; Office of the Director
Cool video 🙂
I have had a mother, three siblings, and a first cousin all die of complications of myotonic dystrophy. Before any of these family members were diagnosed, I was the first to display symptoms forty-five years ago. Actually, it seemed that had been born with symptoms, but forty- five years ago, when I was barely twenty, I grew weary of being labeled the lazy person and the hypochrondriac. I was always tired, sleepy, and uncoordinated. I often said that I wished I could die so I could sleep forever and finally rest. When I was twenty, I started going to the library, studying my symptoms. My family all laughed at me when I said I thought I had either MS or muscular dystrophy. One by one, they were all diagnosed with myotonic dystrophy, and have since wasted away and died. Although I was the first to have symptoms, I have remained functional and done well. I had discovered through my study and by personal experience that for me, calcium is the culprit. I have instructed on different occasions by different doctors to take 400mg of calcium. I simply cannot do it. Even one 400mg of calcium causes me to have excruciating muscle spasms. Over the years, I discovered that hormone replacement therapy(which raises a woman’s calcium level) also causes excruciating spasms and all over extreme and painful inflammation. Over the years, I have tried different herbs and vitamins. I have discovered other things that also do this to me, are also things which raise calcium levels in the body. Those things i have proven to myself by experience that I simply cannot and dare not take are: calcium pantothenate, phosphatidylserine, vitamin D, fish oil ( although I can, and do eat lots of fish ( salmon and talapia), silica, and hawthorn. Vitamin b6 causes me to have extreme hyperactivity, anxiety and depression. Just one B6 tablet will do this to me. Lecithin also, spirulina, and royal jelly. But everything with calcium or that raises my calcium will ( with even one tablet) cause excruciating and frightening muscle spasms. I drink milk and eat ice cream rarely. My brothers and sister who are dead now practically lived on ice cream and milk, bread and white gravy. My sister who was the first to waste away horribly and die also took a daily dose of calcium because her doctor prescribed it, although I advised against it. Needless to say, I have watched my diet carefully over the years, and as my symptoms subsided (although they never totally went away) I have remained functional and very healthy while other members of my family have wasted away and died. Interestingly, my mother and I were coffee drinkers, which seemed to help, although I have discovered more than one or two cups a day are actually detrimental, rather than helpful. My mother did not display symptoms until her late fifties, and never severely. She died of cardio megalith at the age of sixty. I am sure she would have never been diagnosed, except that my sister, when was in her late twenties has obvious symptoms (dragging one foot, unable to use one hand, and elevated cardiac enzymes. My brother also had hands clutched tight in claw-like fashion. We thought it was arthritis when he was in his thirties. It turned out to be myotonic dystrophy.
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