by Melinda Lang
How do you start your day? I begin most days by getting out of bed, taking a few steps and falling splat on my face. Then I crawl over to the dresser and struggle to pull myself up off the floor with my weakened, muscle wasted arms. After 47 years of wondering what’s wrong with me- why do I keep tripping over my own feet, spraining my ankles, and continue to get weaker and weaker? Finally I have a diagnosis. I have CMT or Charcot-Marie-Tooth disease.
CMT, a genetic neuromuscular disorder , affects approximately 150,000 people in the US and perhaps up to 6 million worldwide. Although CMT is the most commonly inherited peripheral neuropathy, many are not aware they have it or have been misdiagnosed.
With this blog I’d like to change that.
If you have CMT, and would like to be interviewed for this blog please contact me, or leave a comment. Like this page The Time Is Now! End CMT and raise money for a cure!
What is CMT?
CMT, or Charcot-Marie-Tooth disease’s funny name comes from the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
CMT damages peripheral nerves connecting the brain and spinal cord to muscles and sensory organs. This nerve damage, or neuropathy, leads to muscle weakness and wasting, mostly in the lower legs, the feet, forearms and hands.
Other symptoms include loss of sensation in the feet, lower legs, hands and forearms; loss of balance; muscle cramps and contractures; and scoliosis or curvature of the spine. The loss of nerve function is often accompanied by tingling and burning sensations in the hands and feet, sometimes causing severe neuropathic pain.
Although weak ankles and foot deformities such as foot drop, hammertoes and high arches are symptomatic of CMT, this rare neurological disorder often goes unnoticed until lower-leg weakness becomes pronounced.
Read More: Times Union, LiveSmart article by Melinda Lang
Although symptoms appeared early in my life, frequently spraining my ankles and falling, my diagnosis of Charcot-Marie-Tooth disease was not confirmed until my late forties. After my neurologist ruled out a number of possibilities, I searched online for an answer. Based on my symptoms: tripping over my feet and falling, weakness in my legs, numbness in my hands and feet, I asked to be tested for CMT1A. A genetic blood test confirmed the diagnosis.
Soon After being diagnosed with CMT, working as a pharmacist became increasingly difficult. My hands became too weak to open even the easy off caps and my falling seemed to alarm the customers. I also became easily fatigued standing for hours and could not work the required overtime. After trying various types of pharmacy; mail service, infusion and a nursing home pharmacy, I felt forced to retire.
To keep busy I volunteered with the American Foundation for Suicide Prevention and Soldiers’ Angels. Then in April 2010, I started a support group to help others with CMT. With help from the group, we compiled a list of CMT knowledgeable practitioners, along with recommended shoe store and pharmacies. Our group shares information and resources, and invite guest speakers to our meetings. We also provide up to date information on the promising research being done by the CMTA. With their STAR (Strategy to Accelerate Research) initiative they hope to have a treatment within 2 to 4 years.
Upstate NY CMT Support & Action Group:
The Upstate NY CMT Support & Action Group was started in April 2010 to offer support, resources and information for those living with CMT. Also, to let others know about the CMTA’s promising research initiative- STAR™ (Strategy to Accelerate Research). We are action-oriented (community awareness, education, fundraising).
Am I physically challenged, incapacitated, disabled or just broken?
When a representative of the Charcot-Marie-Tooth Association visited our support group, he said, “Whenever I speak to CMT groups, I ask how many think of themselves as disabled.” He finds very few raise their hand. He went on to say, “If we can’t button our shirts, we just buy a button hook. If we can’t open jars, we buy special jar openers.” He indicated people with CMT just adapt. Further, he believes CMT’ers don’t consider themselves as disabled. So, then when he asked our group,”Does anyone here ever think of themselves as disabled?” As expected, no one raised their hand. However, I have to admit I was too afraid to respond truthfully.
Whenever I lose my balance or trip over my own feet and fall, while sprawled on the ground, I feel disabled. When I cannot open things, especially those items labeled “easy open, tear here,” I feel somewhat challenged. When I find it impossible to keep up with my husband, who walks quickly, I feel disabled. Worse yet, when I feel like I’m holding up my friends, due to my leisurely pace, I feel lame.
However, what bothers me the most is when people swear at me, because apparently I am in their way moving too slowly. And yes this makes my feel disabled, but more so angry. When I lose my balance or stumble, I worry people may think I am drunk. I prefer they realize I am physically challenged. To me, being disabled just means that I am no longer capable of doing what I used to be able to do. To me, disabled is not a shameful word. Disabled is my reality. Next time, when asked I will raise my hand.
Yes, that hurts!
The medical community tends to downplay the extent of pain associated with CMT. Some doctors may dismiss their patients complaints about pain, or tell patients their pain is not from CMT. Yet, many people with CMT experience similar neuropathic pain. We need to let the medical community know about our pain and urge that more research be done to effectively treat CMT pain.
I have CMT1A, and as my condition worsens so does my pain. Almost daily, I experience nerve pain, which starts below my fingers and extends up my forearm. It feels like a buzzing pain. I first noticed this pain after a long drive. Then my hands and forearm became numb and tingly, making it difficult to grasp the steering wheel. Now, this pain begins after a short 15 minute drive. Additionally this pain, numbness and tingling kicks in when typing on the computer, gardening or chopping vegetables. Now, that I think about it, my hands pretty much hurt most of the time. So now, I carry Lidoderm patches and naproxen in my purse, as I have found these somewhat effective in relieving the pain.
Similarly, I develop tingling, and burning pain in my feet to the point that it is difficult to become comfortable enough to fall asleep. Many nights I have to kick the covers off, even when it’s freezing, because the weight of the covers aggravates my neuropathy.
I also frequently get painful cramps whenever I try to exercise. My physical therapist is helpful in stretching the affected muscle to relieve the cramping, but this is more difficult to manage at home by myself. In addition, my hands frequently cramp up and become stuck and unusable. However, I enjoyed my first pool therapy today without any muscle cramps.
Though, the worst pain I have ever experienced occurs whenever my hands or feet become really cold. This pain is excruciating and takes some time to subside even after my hands are warmed up. Once cold, my fingers are useless and just collapse. Therefore, I wear fingerless gloves in the house during the winter. Because, although I’m warm enough in my sweater, my hands still hurt from the cold.
Moreover, many days I become afflicted with aching pain in my lower back, hips and knees due to my awkward, off-kilter gait. Occasionally, out of nowhere a stabbing pain in my ankle stops me in my tracks. Luckily, my neurologist asks about my pain and offers suggestions, and prescriptions to help.
Sharing the Challenges of CMT with Future Physical Therapists
by Melinda Lang
Every year, for the last 3 years, I have been invited to speak to physical therapy students at a local college about living with CMT.
I met the college professor, Diane, while completing a six-week course for certification as a Health Peer Leader, to assist seniors coping with chronic health conditions. Diane invited me to participate in her class at Sage college to discuss the psychosocial aspects of loss and grieving with chronic health conditions.
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On my first visit, the other guests included a women with MS and a young mother, who had lost her baby to Sids. I felt out-of-place, as if their grief was far more to deal with than coping with CMT. On the other hand, I was devastated when diagnosed with CMT1A, worried about the future. Also, I had been losing my balance, struggling to climb stairs, and had lost significant hand function.
This year, my discussion group included a women, who after suffering numerous strokes followed by brain surgeries, required a wheel chair and spoke with great difficulty. Although I need leg braces, walk with a cane, and frequently fall, in comparison my level of impairment did not seem as serious. So, at first I felt uncomfortable talking about the challenges of living with CMT.
However, the future physical therapists showed a lot of interest in learning about CMT, a disorder they never heard of. The students, always polite and compassionate, asked intelligent questions, giving me a chance to truthfully describe my degenerating condition. On the contrary, with family and friends, I feel the need to pretend that I am fine.
In addition, the professor invited me to participate in their lab as a mock patient. During the lab, the students performed some of the same tests my neurologist administers. One student checked my range of motion and loss of sensation to hot and cold. Another attempted to locate my nonexistent reflexes. Finally, a third student clutched a belt wrapped around my waist, while I attempted some high-stepping across the floor.
Conversing with the students has been very rewarding, knowing an entire class of physical therapists now understand how to help people with CMT. I encourage anyone, interested in sharing their experience, to contact a local college and offer to speak with students or participate in a PT lab.
- Charcot-Marie-Tooth disease(CMT) (findmeacure.com)
- Mice point to a therapy for Charcot-Marie-Tooth disease (medicalxpress.com)
- September Action of the Month (cmtnyus.wordpress.com)
- “What CMT Means To Me” (cmtnyus.wordpress.com)
- Dr. Michael Shy, expert in CMT, addresses Albany CMT group. (cmtnyus.wordpress.com)
- Art de Cure opens Second Gallery: Gala Event to Benefit CMT! (cmtnyus.wordpress.com)