Genetic Testing: A Formidable Question

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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. Life’s steering wheel had never been automatic, but now, I was driving manually with a few more bumps in the road. Through this hazy windshield of unclarity, only Jesus could take this wheel!!

For over 20 years as an adult, I’ve honored an annual, obligatory trek to U.T. Southwestern Medical Center in Dallas. As a child, this yearly pilgrimage landed me at Scottish Rite Hospital for Children. Usual poking, prodding, and weighing were nothing out of the norm. Neither was the yearly, repetitive interrogation by my doctor, testing for measurable improvements in strength, or lack thereof, since my last visit. All the while, typing route answers in her computer to the same questions that will only be asked and retyped next year. Nothing ever changed. Well, maybe one thing…

Like a kangaroo at a trampoline park, my diagnosis bounced around ever since I was a little kid. From lead poisoning, to SMA (Spinal Muscular Atrophy), to a bad polio vaccination, or to doctors who would often shrug their shoulders and call it “Laurie Marshall Disease”. Not until I was an adult did doctors present an unconfirmed diagnosis of Charcot Marie-Tooth (CMT). Although their wishy-washy, conviction was nice, I was never convinced, and neither were my parents. No specific test had ever cleared the deeply muddied waters.

So, I lived my life.

Reminiscing along my health timeline, back to when I was a baby, it became obvious, during many instances, that my medical doctors may not have always known what’s best for me. As an adult, it’s enlightening to grant myself permission to accept that only I truly know what’s best for me  I realize that taking my doctor’s word as gospel may not have always been in my best interest. At first disappointing, then sobering, and ultimately a liberating thought.

It was time to take responsibility for my own health. Diving into research, and self- reflection and contemplation, a new urgency lit a fire under me. Armed with knowledge, it provided me  the confidence to question my doctor. It was time to ask why I had never been specifically tested to solidify my diagnosis, and how I could get one.

Every time I had to explain my health history, be it filling out a doctor’s form, or just obliging a general inquiry from a nosy stranger, a true, authentic response would have fallen along the lines of a continuing soap opera. Absent from being concise or succinct. Instead, a mimetic response of “Muscular Dystrophy” was easy. This answer usually satisfied the inquisitor, as well as myself. Although truthful, the MD umbrella actually encompasses over 50 different neuromuscular diseases. Sometimes, the easy way out is, well…just easier!

Until last year. The formulaic response of “Muscular Dystrophy” wasn’t enough for me anymore. I wanted to know.

Just uncovering this information could not only potentially change my life, but also my parent’s. Concerned that this testing might negatively affect my parents, I hope I properly conveyed that this would be for information only; never for guilt or blame. I wanted them to recognize that no matter the result, this was strictly a circumstance beyond control. No one ever to fault. Although they were in agreement, I knew this would be difficult for them to honor, being the loving parents they are.

With this in mind, I contacted my neurologist during the summer of 2018, and discussed the possibility of genetic testing and what it would entail. She thought it was a great idea. I didn’t press all the questions I had prepared about why this hadn’t been brought to my attention or presented to me as a possible option all these years. Water under the bridge. But, all those pressing questions were soon answered… The rigamarole of dealing with the genetic testing company and insurance left a bad taste in my mouth. An unappealing process which still wouldn’t be able to target the exact thousands of dollars I would need to fork over from my bank account. At that present time, the benefit of knowing couldn’t justify the astronomical amount of money I would spend.

So, half a year went by, and I continued filling out applications with generic health information. Again, this got old. Through prayer and meditation, God spoke to my heart that the truth should prevail and that genetic testing was worth the expense. I was not to worry about the money. Once again, I contacted my neurologist, letting her know I was ready. But, her reply took me back. It was not the same as before. Not only did she offer the name of a different genetic testing company, she also said that it was for FREE! My head seemed a little fuzzy. Did I hear her correctly? How could she go from thousands of dollars to free in only a matter of months??? Obviously, God’s perfect timing is not my timing. I was not going to bypass this blessing as I gratefully agreed to testing.

My doctor completed the paperwork and Invitae sent me the genetic testing kit. On February 13th, 2019, I spit into the vial and shipped it back to Invitae. The only thing left was to sit back and wait.

On March 6, 2019, my doctor revealed Invitae’s genetic report, confirming the diagnosis of CMT-type 2A on the MFN2 gene.

It’s mind-blowing how the advancement of science can answer 50 years of unknowns. My doctor’s hypothesis had always been CMT-type C. There’s not much difference between CMT-type 2A and CMT-type C, but there is a difference. I thought this was the  extent of my newly discovered revelation. But, an extra piece of the puzzle made the confirmation even more real. This genetic test could pinpoint the genetic malfunction down to the MFN2 gene. The place where it all started. WOW!

Honestly, I never thought this day would come or even knew I wanted this day to come. Knowing the truth has changed nothing, yet it has changed everything. I feel the same, yet at the same time, different. Mostly, the truth has yielded unintended peace. What I am positive of is that God has directed me to experience this new chapter in my life. 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.

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