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Tag Archives: Genetic disorder

Genetics – the Key to the Challenges We Face

20 Wednesday Jan 2016

Posted by terrisloanclark in Multiple Sclerosis

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Genetic disorder, This American Life

I really enjoyed this http://audio.thisamericanlife.org/widget/widget.min.js

“>THIS AMERICAN LIFE EPISODE.  I hope you can find time to listen to it.   A young girl dove into medical research in an effort to discover the cause of her weakness and problems with movement.  Jill Viles’ tenacity and curiosity led to information that saved her father’s life and the life of an Olympic medial winner. Her questions led to a change in medical research in a way that rarely occurs from outside the medical community.

As a person with Multiple Sclerosis I understand the relief that comes from finally getting validation  from a terrible diagnosis.  It is frustrating to know something is wrong but to not have a name for the problem.  When the diagnosis is elusive you feel as though the medical community views you as someone too obsessed with every small bodily function. A patient doesn’t know which parts of the puzzle are important to the physician in making a diagnosis and which ones are not. Everything can be thrown into the doctor visit as a result.

As a physical therapist I had exceptional access to physicians and an understanding of how to relate my symptoms.  I recognize that my position helped me to gain a diagnosis much earlier than most and thus the treatment that would keep me from suffering the damage to the nervous system leading to clinical picture more easily diagnosed. I am grateful for this but feel for those who don’t have that privilege.

I admire the young woman in this story.  She dove into research in a way that is remarkable.  When opportunity and clues presented themselves she was poised to take advantage and finally gained the answers she needed. I can only imagine the number of people who will be helped as a result of Jill’s drive for answers.

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