Archive for the 'Genetics' Category

Golden Nuggets of Hope

Unbridled curiosity ramped up my reading and research in order to better understand the scientific side of my genetically confirmed Charcot Marie Tooth type 2A diagnosis, in March, 2019. Never did I dream that months of casual, yet steadfast Google searches would lead me to stumble upon informational gold.  A diagram in the Journal of Clinical Investigation caught my eye.
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A DNA Twist

The news of Charcot Marie Tooth type 2A was not earth shattering. After 50 years of uncertainty, advanced genetic testing confirmed the definitive truth about what had been “inconveniencing” my body for 5 decades. Finally, loose ends were tying up and years of unanswered questions were being answered. The quest was over, and in my mind, slowly coming to a
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Genetic Testing: A Formidable Question

My neuromuscular disease had always taken a backseat in my life. Lately, it was riding shotgun; up front, next to me. An unwanted passenger; a Thelma to my Louise. At times, I’ve come to a foggy  impasse on the best direction to navigate my health. Thankfully, the refusal to have it drive me over the cliff is in my DNA.
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