The Quadruplet Whammy – Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy is what I Describe as the Quadruple Whammy. It hits you hard and just keeps hitting you some more. Sometimes more and sometimes less but it just keeps kicking. Having now dealt with this disease for over 23 years I wonder often why its so so hard sometimes…………Here’s Why

1. Congenital Myotonic Dystrophy. Its present at birth and causes all kinds of issues like respiratory distress, ventilators, premature birth, feeding and swallowing issues, floppiness, etc. And of course it causes developmental delay Okay, so you get hit hard swallow the dreams make up some new ones. maybe its not so bad……… That’s Whammy One

2. In the course of the disease,  many of the kids will develop symptoms of juvenile Myotonic Dystrophy such as autism spectrum disorder,  ADHD, speech issues, socialization issues. Oh boy, now more adjustments throw dream two away…. Make up a new one that fits better. Handle all the issues everyday…..Whammy Two

3. At or near puberty the kids will begin to develop the symptoms of standard myotonic dystrophy such as Cardiac conduction problems, myotonia, muscle weakness in head and legs and arms. Here stuff really happens, serious medical issues again. Chance of sudden death from cardiac failure. Chance of death from pneumonia. Throw out all the dreams and live day to day. . Whammy three.

4. Of course in the midst of all of this the mother has the disease and it is slowly progressive and others in the family have this as well. Many of the moms become involved with symptoms….. to where they can not adequately take care of their baby/child/adult. Whammy four.

Quadruple Whammy! Now the good news is that Isis Pharmaceuticals (Carlsbad, CA)  is working on a drug that will help many of the symptoms of the disease. Only 5-6 years away if all goes well. That will take care of all the whammy’s!!

Richard

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