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. If I was deciphering this out-of-my-league information correctly, I could grasp that the cell had two proteins: MFN1 and MFN2. I recognized the greater and less than signs. As a teacher, such familiar fourth grade curriculum symbols were concrete concepts this brain could handle. This familiarity boosted my confidence to take an interpretational stab at this diagram.
It seemed that when the MFN1 protein was less then the MFN2 protein, disease was prevalent. But, by increasing MFN1 to balance the MFN2, health and function was restored. My brain was spinning as I forced my eyes to scan and rescan the diagram. Could it be this easy? Could combating such a complex problem be so simple? Could increasing a protein be the CMT2A solution? Surely, not. On my return to earth, I reminded myself that this Is merely a diagram, and I am not a scientist.
So why is this the first time I’ve heard of MFN1 and MFN2 proteins? I had to know more. I tweaked my CMT2A Google searches to include the MFN1 and MFN2 proteins. Jackpot! The first article that popped up was written in layman’s terms and linked directly to the above diagram…
(Click on title to view article,)
Discovering that this uncommon disease was on the scientific radar, elevated my hope. Reading the word “Reverse” commanded my attention. What a bold word to use in the article’s title. The body of the article confirmed the accuracy of my initial interpretation of the diagram. But, the closing sentence stopped me dead in my tracks. After rereading it several times, I assured myself that the words on the page existed and that my eyes were not deceiving me. They read, ”…viable therapeutic strategy for CMT2A.”
Within five minutes, hope transformed from prayers and dreams to a sort of intangible reality. The seams of my excitement wanted to burst, but I wouldn’t let them. I remained skeptical that the research on this page could truly apply to me. But, not hallmarking it “impossible”, either. I just didn’t know.
Questions bombarded my head:
How recent is this research?
Are there similar articles out there?
Is this common knowledge in the genetic research world?
What doctors are spearheading this research?
Does my MDA doctor know about this research?
If so, why hasn’t she shared it?
How close are they to clinical trials?
Meanwhile, I kept scouring the internet, finding more nuggets of gold. Each article validating the original one. All while tagging one name in particular: Dr. Robert Baloh at Cedars Sinai Medical Center in Los Angeles, California.
My inquisitiveness gave me no choice other than to contact Dr. Baloh’s office. Which is exactly what I did on February 10, 2020. I spoke with a CMT coordinator. She mentioned that a CMT clinic existed within Dr. Baloh’s neurology department. Not only rare, but very impressive Yet I wanted to get down to business. I explained to the coordinator that I was specifically interested in Dr. Baloh’s genetic research. She said that although it is VERY promising, it is still 5-10 years off. “Ugh!” was my internal response. I refused to have my wind sucked out of my sails, and reminded myself that 5-10 years is better than the previous alternative; A BIG, FAT ZERO. Luckily, I’ve stashed a stock pile of patience since my teaching days! No matter the time frame, and no matter if I reap the benefits, or not, it’s comforting to know that, one day soon, there will be a treatment to combat CMT2A. In the meantime, Dr. Baloh requested to see my genetic test report, confirming my CMT2A diagnosis. Upon his review, he included me in his database and added to a list of prospective research subjects. This will give me the best chance to qualify for clinical trials without having to travel across the country.
Before 2019, my diagnosis was not a blank slate, but more of a convoluted slate stamped with an enormous question mark. Also, a select few people were calling my physical situation hopeless.They said, and still say, the fight is selfish and fiscally irresponsible. Thankfully, God keeps dropping these golden nuggets of information in front me, challenging me to trust and follow His lead. Through prayer and stillness, I listen. Time and time again, especially this past year, He reveals His grace. First, through answers given by my genetic test, and my parent’s tests, as well. My test substantiating CMT2A led me to the medical journals; which pointed me to Dr. Baloh,whose scientific evidence allows me permission to hope.
God never fails. His timing is perfect! I must listen to His voice, only. His grace proves to me that my only choice Is to prevail with unwavering strides of faith.
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References:
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
Yueqin Zhou,1,2 Sharon Carmona,2 A.K.M.G. Muhammad,1,2 Shaughn Bell,1,2 Jesse Landeros,1,2 Michael Vazquez,1,2 Ritchie Ho,2 Antonietta Franco,3 Bin Lu,2 Gerald W. Dorn II,3 Shaomei Wang,2 Cathleen M. Lutz,4 and Robert H. Baloh1,2,5
First published March 18, 2019 – More info