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 halt As I prepared for this venture to close, a rare juncture popped up. Was I willing to embrace this startling, new diversion?
In a previous blog entitled, Genetic Testing: A Formidable Question, I wrote,”Honestly, I never thought this day would come or even knew I wanted this dy to come. Knowing the truth has changed nothing, yet it has changed everything. I feel the same, yet at the same time, different. Mostly, unveiling the truth has yielded unintended peace through God’s greatness. And, although I don’t know if this new discovery will benefit me, I also don’t know that it won’t. But I am certainly ready to welcome a hopeful future through strides of faith.”
Little did I know, what that hopeful future meant. When my University of Texas Southwest Medical Center neurologist and I discussed my new found revelation in depth, she informed me that I had a choice. One I could have never predicted. Invitae, the company that granted me free genetic testing, also offered complementary genetic testing to parents of children who test positive. My immediate response was, “Is it worth heading down that rabbit hole?”. I never blamed my parents, or found the need to ask why? Besides, you can’t unring a bell. My parents, married 60 years, probably weren’t planning on having any more children…and neither was I. Would this extra burden, pinpointing one or both as specific carriers, be beneficial? On some level, I’m sure they’ve dragged that ball and chain around their entire lives. “What was the point?” I declined the offer.
Upon further examination, I realized that making such a rash decision without the input of my parents wasn’t fair to them. Ultimately, they should make the decision. The discovery of either of my parents, potentially, being CMT carriers may not immediately benefit me, but could possibly benefit other family members. They agreed that this information could be the greatest gift they could ever give their only grandchild, Zoe. My parents decided to proceed with genetic testing. I could not have been prouder of them for making this very brave and selfless decision, setting aside any fear, in order to explore the unknown. I informed my doctor to proceed with genetic testing for my parents.
Mary Ann and Dave spit into their individual vials on June,19, 2019. We waited. The results for mom’s test were completed within a month. She was found as a non-variant carrier. In other words, CMT 2A was NOT DETECTED in my mom’s genes. Relief washed over me as I read the report showing absolute proof that my mother was not responsible for my challenges. My dad’s test was a different story. After two, spit samples, the lab’s results were moot. A nurse from the testing company, Invitae, physically visited the house in order to draw a viable blood sample from my dad. Hopefully, the difficulty drawing a sample was not a foreshadowing of the results. We waited. Finally, an accurate reading. After months of anticipation, on August 15, 2019, the results were in. CMT 2A was NOT DETECTED in my dad’s genes either. We all exhaled.
The mucky detour had finally been rinsed away, revealing answers that were more translucent than transparent. Even though the answers weren’t perfectly clear, it narrowed the window for a more specific hypothesis. First, by eliminating the possibility of a genetic, spontaneous mutation occurring during conception. The most common premlise put forth by the majority of doctors over most of my lifetime. A now debunked theory due to genetic testing, proving impossible since I was born a healthy baby.
The only logical conclusion left points to childhood vaccinations damaging my MFN2 gene. This would make overwhelming sense since my symptoms started expressing themselves after my last childhood vaccination. Dr. Cris informed me that we all have weak links in our DNA. Genes are found in chromosomes, and weak links in our chromosomal DNA are not uncommon. These weak links usually don’t express themselves or affect a person in any way. Unless, the weak link is triggered. Outside environmental factors often pull the trigger. It could be anything that the body considers traumatic such as a fall, car accident, or even vaccinations. Regarding vaccinations, adverse effects to the gene might be a bad vaccine, or by just the sheer number of vaccinations given to a child at one time, back in the 1960’s. Personally, due to recent genetic evidence, I believe vaccinations were my weak link trigger. A trigger my little body just couldn’t handle.
I feel so blessed. This path of miraculous fates proves that God in working behind the scenes. The fact that Invitae gifted all three of us free genetic testing is unheard of. Even though the outcome has generated a plethora of more questions, my parents and I are extremely grateful. I find it intriguing that all signs and signals still point to hope, even after unraveling a truth which had forever been considered hopeless. Confidently, I am assured that God will keep revealing more answers with continued strides of faith.
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