Charcott Marie Tooth

CMT or Charcot-Marie-Tooth is the most commonly inherited peripheral neuropathy. It affects over 155,000 Americans (as many as MS). It is a disease of the nerves that control the muscles. It is slowly progressive, causing loss of normal function and or sensation in the lower legs/feet and arms/hands.

Symptoms include; muscle wasting in the lower legs and feet leading to foot drop, poor balance and gait problems Atrophy in the hands causes difficulty with manual dexterity.

Structural foot deformities such as high arches and hammer toes are common.

Poor tolerance for cool or cold temperatures and many people have chronically cold hands and feet.

Additional symptoms may include fatigue, sleep apnea, breathing difficulties and hearing loss.

A day in the life of me..

cold Most peoples’ daily routines start with coffee and breakfast. A day in the life of a person with CMT varies quite drastically and can be rather challenging. Please let me explain.

If we’re lucky, we had a great night’s sleep, and we need sleep and rest so badly to counter the naturally occurring fatigue plaguing people with CMT. Consistent restful sleep is critical, providing the energy to face the day. People with CMT desperately need lots of sleep. Unfortunately, we very rarely, if ever at all, get a fraction of the sleep we require, almost never, actually. I constantly toss and turn all night, as do most people with CMT. My arms and legs burn and ache, yet at the same time, are constantly freezing cold on the inside and feel extremely restless. Many nights, I just give up on the sandman completely. Many people, including myself, are caffeine addicts – morning coffee makes facing the day without sleep somewhat more tolerable. Most people shuffle into the kitchen, still half asleep and prepare a pot of coffee without even thinking about it. I reach for the coffee filters and the battle begins. My fingers will never separate just one thin filter – the filters all stick together. Wrestling with the stack, I eventually get one or two or some filters to separate. Good enough. I insert the filter(s), struggle with the lid on the coffee container, finally wrenching it off the container, sometimes spilling the contents, sometimes not. People with CMT have very little use of their thumbs and forefingers. A dog could make coffee just as successfully, a raccoon or a monkey probably more efficiently than a person with CMT. Scooping the coffee into the filter is yet another challenge. Precariously balancing the scoop, I slowly fill the filter with coffee grounds, and start the perk, not a matter of seconds, rather, this takes minutes to achieve. People with CMT learn to add precious time to every task.

Beep, Beep its go time! Coffee is ready. Yeah! I pour a cup, nothing quite like that coffee aroma so early in the morning, or that first delicious taste! A little bit of Heaven, especially after a long sleepless night. I grasp my mug, like I’m clutching it with paws, which, pretty much, is exactly what I am doing with my minimal to useless thumbs. Atrophied muscle in my hands renders the mug too heavy to hold. I must actually make a mental note to grasp the mug tightly, even though I cannot really feel it. This is also somewhat dangerous – this is hot coffee and the heat of the mug will burn my hands, but I can’t feel the danger, because I cannot feel the signal of pain. As I cannot feel the pain, I inadvertently forget it could be dangerous. Holding a coffee cup is second nature to most people. Only people with a neuropathy like CMT must mentally tell their hands to grasp the cup while being mindful not to burn their hands in the process.

Now I’m hungry. My favorite breakfast food is cereal. I walk to the cabinet and pull out a new, unopened box. Great, I think to myself, here we go again. Breaking into the glued cardboard is difficult enough but the plastic bag containing the cereal is my true nemesis. The cereal bag and I go to battle several times a week, usually ending in the bag’s utter demise. I completely destroy the bag attempting to open it. This is a typical site gag on T.V. but in real life – it really isn’t all that funny. I paw futilely at the bag which ultimately splits it in two, sending cereal flying, making a mess. If the bag holds at all, it is no longer very useful, resulting in stale cereal next time. Just a day in the life. Right now, you are thinking, “why don’t you just use scissors?” Good question. Stubbornly, for once, I expect something to happen the way it should happen, the way it happens for most people, using no extra steps or preparation. Definition of crazy – doing something the same way over and over and expecting different results. That’s me and those blasted cereal bags. Just once – open easy.

Plastic bags, ziplock bags (without the actual zippers), paper grocery bags without handles, large plastic garbage bags all have their own, special, evil annoyances. Opening bags causes frustration, but that chore pales in comparison to screw off lids on jars. People with CMT break a sweat trying to open jars – heck, sometimes we break the actual jar! For us, removing the jar lid without assistance is pretty much impossible. Those of you with CMT reading this blog are nodding right now. We spend much of our days wrestling with bags, prescription bottles, screw lids on jars, pull tops on drink cans. People with CMT become very Darwinian in their thinking. We gotta be smarter than the container if we want to eat or quench our thirst!

Daily living presents challenges but for every challenge, I manage to Darwin a solution. Incorporating different inventions, simple or complex, help me adapt to each daunting task, be it cereal, coffee, or tying my shoes. My pocket knife rocks. This is my favorite tool. Forgetting to bring it with me everywhere completely complicates my day. Rarely used for cutting, this tool provides the dexterity required for picking up objects dropped on the floor. Coins, keys, anything with a flat ¼ inch height or less are just miserable to retrieve. Without the assistance of my pocket knife, I don’t even bother – the object usually stays on the floor. Unless I’m extremely lucky, bending down to make a quick snatch doesn’t happen very often. More likely, I bend over and make several attempts to grasp the dropped item, running out of breath, all red faced and gasping, then stagger backward, and occasionally, fall. Other people look at me like I’m faking something or drunk. I get so embarrassed and frustrated. People assume I am angry. I’m not mad at all, just frustrated, and embarrassed.

Pull tabs are pried open with anything handy – a key, a fork, a writing pen. This doesn’t always go as smoothly as planned and either leaves me sticky or smelling of the can’s contents. I love my oversized keychain. I mean giant sized keychain — so big, it barley fits in my pocket. My hands can manipulate this monster keychain and I can fish my vehicle keys out of a pocket every time.

Honestly, the very best, tried and true tool I have discovered, a tool guaranteed to always work every single time is tenacity. I never give up. Ever. If I cannot achieve a task one way, I try another way, then another, then another. I will succeed and revel in my earned victory of success, big or small. The victories add up, so the positives add up. There’s always a pony in there somewhere.

Searching for answers

Maubry MillThe days passed. My condition deteriorated. I suffered chronic pain, mentally and physically. The challenge to maintain the façade became almost too tough but I continued to shove reality into a distant corner and slap on the happy face daily. The stress definitely took its toll on me. No matter how tough I presented myself to the world, many times I found myself slipping. I was beginning to crater. I may have fooled some people, family and friends, but mostly I fooled myself. When asked, “Timmy, are you ok?” or “Timmy, how did you hurt your leg?” I shrugged it off, attempting to redirect their attention, laughing and changing the subject. I breathed a sigh of relief, believing I was successfully avoiding burdening anyone. Deep down, I was scared to death, frightened at how sick and disabled I was becoming, frightened it was getting more difficult to hide.

One of the main reasons I never received the medical care I needed was the expense. Medical expenses were a huge stumbling block while I was growing up, coupled with the lack of knowledge concerning my condition and the lack of treatments available for patients with CMT. Patients with CMT were often misdiagnosed and actually still are today. Many people with CMT are actually diagnosed with Multiple Sclerosis. Multiple Sclerosis is an autoimmune disease that presents with almost identical symptoms. When I was a child, no doctor treated the actual disease – the CMT. Instead, doctors focused on treating the symptoms. Sadly, to this day, this still occurs and to this day, there is no real treatment or cure for CMT or consistent success in treating the symptoms. Patients find relief experimenting with different drug protocols and therapies but no drug or therapy seems successful long term. So patients with CMT tend to get shuffled around the medical community simply because no one knows what to do with them. With an inherited disease like CMT, the entire extended family is affected with multiple patients in every generation. Oddly peculiar to families with afflicted with CMT, collectively, the extended families feel shamed by the disease. Strangely, entire families attempt to hide their family affliction of CMT to the public. It has only been in the last couple of decades, literally, patients with CMT are finally stepping out of the shadows, many times, much to their families’ chagrin, and purposefully creating awareness of CMT in the search for answers and a cure.

As a little kid, and to this day, late at night, or in moments of weakness and insecurity, I secretly ask myself those looping, haunting questions: the “why?”, the “what if?”, the “how come me?”. Now, as when I was little, I force my mind to silence this absurdly useless thinking. This is my life and I choose to be proud of my life. In spite of my challenges with CMT or because of them, I continue to push through my limitations every day.

Out of my hands, CMT and me.

cmt handsI’m pretty sure by now my friends following this blog are beginning to get it. I was constantly in pain, completely beat down, and losing my sense of direction and interest in life. I was extremely dissatisfied and very depressed. What do you do in a car with no steering headed down a hill? You ride the brakes hard, which only serves to cause more damage to the car. This was my life at this point in time – a car without steering and me so desperately riding the brakes smoking hard, grinding them right down to the rotors. I was living on borrowed time with my legs and feet but I haven’t even begun to share the problems with my hands…

As the CMT community understands, our hands give us a very difficult time, too. My hands look funny just to be bluntly honest. The muscle tissue connecting my thumb to my hand has vanished. This is a CMT trait called “muscle wasting”, and becomes progressively worse with time. My fingers want to do that “claw” thing — draw into me when I lay my hands on a flat surface.

Often, the simplest daily routines become a nightmare. At age 16, I noticed small things others might not even notice but these incidents set me apart from all my buddies at school. I could no longer hold eating utensils correctly, with the fork or spoon in my hand, grasped gently with the thumb and index finger, palm facing toward me. Instead, the only way I could manipulate an eating utensil would be to awkwardly clutch the fork or spoon like a gardening trowel, so embarrassing, like a mannerless caveman. If I did not hold it like this, I would drop it. I’ve since attempted to modify my grasp of eating utensils, but sadly, this is what I can manage so I accept it. The fatigue in my hands is really horrible, especially in the colder temperatures. Try squeezing a tennis ball really hard, repeatedly for 3 minutes, as vigorously as you can. Now hold a fork properly. You might sense the constant state of fatigue in my hands every day.

Similar to the pervasive fatigue affecting my lower extremities, I suffer equally with my hands, and the muscle wasting progressively takes its toll on my physical well being as the years pass. Charcot Marie Tooth causes persistent numbness and tingling that never goes away. This numbness and tingling – more like a burning sensation, reminds me of when we were little kids and someone would grab your forearm with both hands, twisting the skin in two different directions at the same time as hard as they could. If you ever experienced this, you know it burns like crazy. Well, the pain, tingling and burning I experience constantly feels just like that, only some days are much worse than others, and it never stops. Cold temperatures intensify the situation. If my hands get cold, they take a lot of time to warm up and ache and burn uncontrollably, like a really bad sunburn from the inside out. On a good day – I merely experience a pins and needles sensation like when a limb has been “asleep” and is “waking” again.

Cold temperatures seem to be my worst enemy and limit me to doing things a man just enjoys doing. I love to hunt and fish but the issues with my hands make it very difficult. My friends know I will keep on doing what I love regardless of these problems and this pain. I am very skilled at appearing completely “normal” — just an average, ordinary guy. “Masking” uses a great amount of energy in and of itself, simply attempting to fool the world and appear “normal”. I am actually struggling in my own little world.

Then there is this: my hands will actually cease working from time to time. Absolutely stop working, unable to do simple and common everyday things such as holding a cup, grasping a TV remote, or retrieving a dropped coin from the floor. This actually causes me to constantly drop things. An item will literally slip from my grasp without me even realizing, since I cannot feel the item in the first place. Guys don’t think about how much time it takes to shower and dress for the day, they just do it. But guys with CMT think about it. Heck, guys with CMT have to schedule it, like an event. Scheduling the allotted extra time to accomplish simple tasks like brushing my teeth and combing my hair is a daily burden. Most guys do not even give these simple tasks a second thought.

Here is an opportunity to experience CMT hands for yourself. I encourage you to try this exercise and time it. Take off your shirt and jeans. Tape the fingers of both your hands together. Tape all of them, even taping your thumb to the other four fingers. No opposable thumbs in this exercise. If you really want to experience what I feel to the fullest, wrap your hands in saran wrap first to dull the sensation, or put on a pair of gloves, then tape. Start the timer. Grab your jeans and shirt. Hey, if I can do it, you can do it. Now, let me know when you’ve wiggled into those jeans and that shirt using your taped up hands. No worries. Plenty of time, here. No cheating now. Wait, you can’t leave the house like that – your fly open and shirt unbuttoned? You are not dressed yet! But — are you frustrated yet? Keep timing! You will eventually get your fly zipped and your shirt buttoned, your socks on and your shoes on and tied. Don’t want to be late for work… How you feeling? A little winded? Exhausted? Almost aerobic?

My hands are not taped together, you’ve pointed out. Agreed. But there is absolutely no sensation in my hands. Moreover, my thumbs fold into my palms, no longer opposable. Might as well be taped up just like I suggested you try, obviously making a simple task like getting dressed, something accomplished daily by a 4 year old, completing daunting to people with CMT.

Before you untape your hands, try picking up a small object like a coin or a screw you’ve dropped on the nice, flat floor, not carpet. I wonder if my wife knows how much money has been swept under the sofa in frustration. There must be a goldmine under there! Ok, now you can untape your hands. Just a day in the life…

Fighting a losing battle

Dad and I

My prior blog briefly covered my first 30 years living with CMT.  Today I am sharing the next few years, a great life spent dodging countless CMT curve balls.  The mental anguish competes with the detrimental physical aspects of this terrible disease.  I spent lots of down time, patiently waiting to heal injuries, wondering — the what if’s, the “I wish I would have done that’s.”  This pesky, negative thinking occupied my brain much of the time.  My mind would wander off during conversations with people intently sharing their stories.  I learned to disguise my mental AWOL forcing frozen smiles, nodding, and adding an occasional “yes,” or “really?” at appropriate times to prove I was actually listening.  (My apologies to these people of course!)  Practice makes perfect — I was getting rather proficient at masking pain and hurt and pretending to be involved.  Unfortunately, mental fatigue began to take it’s toll.

Shortly after leaving my job at Walmart, I started visiting doctors searching for options to improve my health.  I was given a prescription for custom made orthopedic shoes. My foot deformity was extensive with very high arches, curled hammer toes and bone growth on the side of my foot, painful stuff to say the least.  The shoes were ready made in a shop but had to be customized to my feet.  With some tweaking by the podiatrist, I was ready to go.  Surprisingly, these shoes felt really comfortable.  But, as a fashion statement?  Well, maybe for Frankenstein.  Clompy, scary shoes — black leather bricks, heavy as anchor weights, exhausted most of my energy, as if I had any to spare.  Thank God I had already graduated high school.  I can’t imagine attending high school in these ugly shoes and dealing with the social trauma, too.  I already had quite a bit on my plate.

A year passed.  Now, the shoes were so worn out they were literally falling apart. Medicare would not cover the cost of replacing them and I could not fork out another $1,500.00 for custom made, orthopedic shoes. If I were diabetic, Medicare would have covered the expense.  To me this seemed so unfair – my disability did not matter.  This decision by Medicare hurt me very much.  So, desperately needing another pair of shoes, I was forced to wait.  Purchasing another pair at this time was impossible.  Back to $20.00 sneakers, constant, intense pain, and faking a positive attitude to the world, pretending to be normal, pretending to be happy.   My foot deformities – abnormally high arches, curled, hammer toes – coupled with poorly fitting shoes caused ulcers and callus buildup on my feet.  Foot drop also contributed to these issues.  Foot drop is caused by loss of nerves and subsequent muscle deterioration in my ankles and feet.  With foot drop, when walking, I have no control over the strike pattern of my foot.  Think of a floppy, broken hinge.  Gravity brought my feet to the ground, and my feet landed however they landed, without any control whatsoever.  The ulcers on my feet never healed since they were constantly being irritated.  Doctor’s orders over and over, like a broken record: Off your feet, take it easy until the sores heal, you will be OK.  So much idle down time to think.  I was a young man.  I didn’t want to spend my life sitting in a chair with my feet up like an old man, contemplating “if only” and “what if.”

Charcot Marie Tooth is a peripheral neuropathy disease affecting the nerves outside the brain and spinal cord. CMT related neuropathy begins in the extremities like toes, feet, fingers and hands, in varying degrees of severity, from one patient to the next. I always wondered why my feet were totally numb from my toes to my ankles.  Now, I know.  As soon as a sore would heal, another would appear.  I could not feel the sores, even when they became infected. The only thing I could do is use a mirror to check the status.  This caused me such mental torment.  I hoped for healing only to discover new sores daily.  It is beyond words attempting to share how really scary and out of hand this condition became and I just wished so much for it to go away.  Of course, it never did.  A local podiatrist would see me on a weekly basis and trim my ugly feet, wrap them in bandages, and send me home.  My regularly prescribed, cocktail of antibiotics would temporarily help, but this was just buying me time.  No doctor ever addressed the actual root cause of the problem, my deformed feet, or the CMT.  Instead, they treated the symptoms, over and over again.

I’m not about to tell you some days were better than others.  That would be lying.  I often wonder what others feel like when living a life forced to focus on an uncontrolled and relentless medical condition.  Think this: driving a car down a winding hill with no steering.  Even at the wheel, you are forced to be the passenger.  No control.  I had no control over my health or planning my own daily life, even after seeking help countless times and following doctors’ orders exactly.  My dad and I shared a lousy disease.  But I felt completely isolated and extremely pissed off.  I was physically exhausted and becoming more and more mentally exhausted from the frustration and lack of control living with this nightmare disease.  Pretending to be happy, always wearing the pasted, fake smile, eventually took too much effort.  Pretending simply became too hard.

Growing up with Charcot Marie Tooth disease

xmas    Hey world, Timmy Dixon, here, just a regular guy, regular in my eyes, anyway. I’m a 35 year old, married man, with no children and 2 very sweet dogs. I live in little house nestled between two small mountains, a location people around here call a “holler”.  I enjoy living a quiet, slow paced life in the Blue Ridge Mountains of Virginia. Virginia is so rich in country living, folk and bluegrass music and all the outdoors adventures I could ever wish for. Frankly I just couldn’t imagine my life being any more perfect.

 

At age 10 I noticed myself being a little different than all my buddies my age. It was becoming rather difficult to fall asleep at night. Laying in the bed my legs would ache with a strange sensation, like worms crawling inside them. I would often have my mom massage my legs.  Massaging helped. My terminology was “I have the wiggles”. I just loved going to the public swimming pool in town but I started noticing my feet hurting me whenever I would climb up the ladder to get out. Fatigue would also bother me quite a bit but I always tried to keep up with my friends. One day, out of the blue, my parents decided a medical checkup might determine the origin of my health issues.

 

My doctor visit took place at Duke University Medical Center in 1988.  I was just a little kid.  I was excited about the road trip and this rare opportunity to drive through McDonalds and get a Happy Meal.  After a thorough physical exam, the doctor diagnosed me as having a hereditary neurological disorder. My mother was in good health as I remember but my dad was a different story. My dad had a medical condition called Charcot Marie Tooth disease, or CMT.  My medical condition was finally, officially diagnosed and all I needed was medicine to fix it, right?  Nope.  Charcot Marie Tooth disease is a hereditary neurological disease affecting the peripheral nervous system. People with CMT suffer a progressive loss of muscle tissue and touch sensation across various parts of the body.  CMT is one of the most common inherited neurological disorders affecting 1 in 2,500 people worldwide.  Relentlessly progressive, CMT has no cure.

 

We returned home.  I went back to the business of being a kid and being a kid, never gave the doctor’s diagnosis a second thought. The occasional question came up regarding returning to the doctor for corrective surgery.  Asking a kid if they want surgery is like asking a kid if they want go to school, or eat dirt.  Not only no, but heck no.  In my mind, I was fine and could manage the symptoms.  I chose to hide the symptoms and stop complaining. The idea of surgery scares little kids.  I was no exception.  I decided not to share I suffered so much pain.

 

As the years progressed, the progression of CMT affected my balance and my reactions to certain situations. My legs and feet were completely numb.  Secretly, this scared me A LOT.  I noticed the shape of my feet changing more and more.  Every month, my arches grew higher and the turn overs became more prominate. Turn overs are my definition of the constant rolling over of the ankles making it very painful to even stand.

 

I graduated high school in 1996 and began working in the local furniture factories.  I bounced from job to job.  Standing on the hard, concrete floors was very demanding, creating intolerable pain in my feet.  In 1999, I began working for our local Walmart.  I loved my job.  One day I was working lawn and garden, loading some bagged soil for a customer.  I heard a loud “pop” and immediately felt pains shooting up my leg.  I went to the break room and removed my shoe, revealing a very damaged foot — beet red, hugely swollen, and bruised along the side and bottom. A doctor visit followed that evening. It seems I had suffered a stress fracture and was given some ace bandages and pain meds then sent home. Little did the doctor know my foot was breaking down on the inside. This injury forced me to resign the job I loved at Walmart and working any job shortly after that.

 

Countless corrective shoes and doctor visits over the next 5 years or so produced no relief or cure.  Constant infections, repeated courses of antibiotics, and special diabetic shoes produced no results.  And doctors.  So many doctors.  Doctors as perplexed as me – yeah, I’ve seen my share of doctors throughout my lifetime.  Even so, I continued to live as “normal” a life as I possibly could.  I never lived in constant fear of injuring myself.  I never gave in to CMT.  My first 30 years with Charcot Marie Tooth have not been glorious by any means but the pain and experience made me tough as nails.  The debilitating pain and injuries suffered through living with CMT created more challenges than most people experience in an entire lifetime.  This was a cakewalk compared to the next five years…