Scraped knees, scabbed elbows, and bruised toes were hazards of walking as a child. Falling was normal. As birthdays passed, walking became more difficult. Occasionally, my dad would hold my hand when walking. Not only a sign of affection, but a source of balance and stability. His large hand would instinctively clinch my tiny one upon the buckling of my knees, providing a safety net between me and the concrete. The feeling of being swooped up in those perilous moments made him my real-life SuperMan.
Around the age of 2, a pesky companion with an unknown diagnosis wove its way throughout my peripheral nervous system like uninvited ivy in a garden. The older I got, the more the invasive vines took root, extending their shoots and winding deeper throughout my nervous system, restricting the message to my muscles. Doctors provided no solutions. There was no sign of a Superman save.
Living life to its fullest was my only alternative. A subconscious choice; one as natural as breathing. Differences embraced and excuses disallowed. The word ‘cannot’ expelled from my vocabulary. High expectations for myself, and from others, was mandatory. Maintaining mobility, and the appearance of “normal”, was top priority, even at a young age.
Fast forward 52 years, the appearance of “normal” withered, virtually impossible to maintain. In the same year, I hesitantly, yet eagerly, took advantage of a rare opportunity. In 2019, a genetic test confirmed Charcot Marie Tooth (type 2A) disease, or CMT for short. A progressive, neurological disease which slowly diminishes nerve impulses or “electrical signals” to the outer extremities of the body. The transmitted electricity is unsustained as it travels further from the central nervous system, causing certain muscles to weaken, or not work at all. Similarly, it’s like when the power goes out in your house, you may experience a brown out instead of an entire blackout, or either event may not affect the entire city, just clusters within it.
I was surprised that this disease had such a long history, yet still had NO treatments and NO cures since its first discovery in 1886. Upon more research and inquiries, I discovered the CMT Research Foundation; a new foundation, originating in 2018, solely focused on providing treatments and cures for CMT. Its CEO’s and co- founders, Susan Ruedigar and Pat Livney, were also patients affected by CMT. For them, it was personal.
CMT affects an estimated 1 in 2,500, or 126,000 people in the United States and about 2.6 million people worldwide. Susan and Pat took the most common neuromuscular disease, that nobody’s heard of, off the back burner and created the CMT Research Foundation. A central hub assembling the best doctors, researchers, big pharma companies, and the FDA with patients; all in hopes of bringing immediate awareness, attention, and funding to generate treatments and cures for this little known disease. Much like Superman’s “S” represents the Kryptonian symbol for “hope”, the CMT Research Foundation represents hope for CMT.
Luckily, I had the privilege of having a lengthy conversation with Susan, A determined and energetic woman who’s on a mission to wipe out CMT. The biggest take-away from our conversation regarding CMT was not what I expected. She said that it’s…
Not a matter of finding a cure, it’s a matter of FUNDING one.
This chart easily depicts CMT’s lack of attention and funding compared to other neurological diseases:
“In short, CMT is underfunded and therefore under studied. In 2016, NIH (National Institute of Health) invested $11M in CMT but $100M in ALS. ALS now has treatments and hundreds of candidates under development,” Susan explained.
MONEY=INCREASED SCIENTIFIC EFFORT=SPEED
She went on to say that …
$100,000,000 would drastically help reach the goal of ending CMT.
How would $100M make a difference?
- build and test gene therapies for 100+ genes which have already been identified to cause CMT (for all 4 CMT subtypes – type 1, type 2, type 4, and type X )
- deliver gene therapies, ready for approval, for 10 of these known genes, treating more than 90% of all people with CMT.
- invest in drug development for nerve remyelination and nerve regeneration
- focus on clinical trials that are well-designed and well run – bringing greater chances for success.
“That’s our focus right now. The CMT Research Foundation is focusing on current science that has the potential to lead to treatments. Our mission is to invest in advancements in science that bring us closer to clinical trials. Additionally, we are introducing CMT to new researchers (through funding) and new companies (through marketing and funding), to increase the efforts and advance the field,” shared Susan.
The CMT Research Foundation has a lot of hard work in front of them, but what they have achieved in a small amount of time is beyond encouraging. As a patient with CMT(type 2A), you can only imagine my excitement when reading, in two different medical journals, about how researchers have REVERSED CMT (type 2A) in mice. (See links below). Yes, I know that the bridge between mouse and human presents a great gap, but that’s where the CMT Research Foundation comes in, providing resources to make such life-changing discoveries come to actualization. Besides, if a vaccine for COVID-19 can come to fruition, given $98 billion from the government, and into people’s arms in less than a year; it’s only fair that CMT should have a tangible treatment within the next few.
years.https://pubmed.ncbi.nlm.nih.gov/33074106/
“There is a superhero in all of us, we just need the courage to put on the cape.”
– Superman
To me, and others with CMT, Susan and Pat are our real-life heroes. They have put on the cape. As I look in the mirror, I realize it’s my turn to put on the cape. Hopefully, this blog is just the start for me to help bring awareness and funding to CMT. I humbly welcome you to also put on the cape. Click on the link below and please, familiarize yourself with CMT, whether it directly affects you, or not. Let’s spread the word and bring CMT out of the shadows. This link also provides a DONATE button if you choose to support the CMT Research Foundation…
DONATE
https://cmtrf.org/action-plan-to-end-cmt-2021/?utm_source=cmttreatmentreport.com
Eliminating CMT was once an impossible dream, one too scary to voice. Cures were never discussed. Lives carried on. Now, the word cure is no longer like squinting at a distant mirage through rose-colored glasses. Through awareness and funding, medical champions have brought CMT into clearer focus. Thanks to advancements in modern therapies, words such as treatment and cure are synonymous with CMT. Hopefully, faster than a speeding bullet, treatments and cures will triumph over this disease during my lifetime, or even better, my parent’s. The best gift any family affected by CMT could ever receive…all with Strides of Faith.
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