My Story

I was eight years old and half-way through the third grade; it had been a good year so far and it was my first year not being home schooled. My teachers loved me and I adored them as well. I enjoyed learning and was well-behaved and perhaps a bit shy, but I got along with my peers just fine and no one had reason to complain about me. I had never been very athletic but this was never a problem at school. I was a happy-go-lucky little girl.

Then half-way through that year my life quickly changed. Within the next three months I got five ear infections and three throat infections. I went on antibiotics and was soon plagued with horrible stomach pains that would leave me crying and screaming on the floor. They weren’t leaving, and no one seemed to know what was happening to me. Migraines were also added into my pains. I was missing school and seeing all kinds of doctors. They gave me all sorts of tests and looked into a wide range of things but nothing told us what it was. Two of the less “enjoyable” tests were a scope and upper GI. Some of the doctors took the “She’s lying” route. They’d ask me all sorts of questions like “Were you happy in school?”. I was, until this happened to me. Some suggested taking me to a psychologist. Needless to say, I’m not big on doctors these days, even though I want to be one.

My teachers, on the other hand, were very supportive, for they’d seen how well I was doing prior to this. Unfortunately, I didn’t have the same teacher experience in the fourth grade. By then I’d learned to wear my classic fake smile and suffer in silence--voicing my pains got me nowhere. So my teachers were completely unaware and acted like my mother was just extremely overprotective.

Fast forward to eighth grade. Over the last few years I’d switched schools due to bad teacher experiences and health problems, and eventually settled on home schooling. The stomach and head pains had settled down for the most part (finally!), not due to any help from doctors. I was “just” dealing with fatigue. One day I was at my best friend’s house when I felt a pain in my shoulder. I figured I’d pulled something, and tried to ignore it. Little did I know this was my welcome to CMT. My shoulder pain persisted, developing into shooting pains down my whole arm (neuropathy pain). Soon I was also getting cramps and muscle spasms in my hands/arms/legs. We ended up seeing several neurologists and I was more formally diagnosed with CMT1A. (My family had suspected since I was little.)

I’m now a sophomore in high school. My CMT has progressed a lot, and I’ve gone through numerous different pains and problems from it, which, as you can see, I’ve started to blog about! I’ve been lucky to have supportive teachers, peers, and family. I plan to go into neurology and I hope to be able to help other people with CMT someday.

Regained function due to splinter

I remember several years ago when I'd go to doctors about CMT and one thing they'd always have me do was stand on my tip-toes. I could always do this with ease and felt quite proud, even though I could never walk on my heels when asked. Sometime in the last year I lost the ability to stand on my toes. Even though this was never something very useful, it was quite upsetting to me. I started to wonder what I might "lose" next, but it did make me appreciate the little things I can still do, the ones even I take for granted.

Yesterday I got a splinter in the heel of my foot. Despite my family's attempts to remove it, it was quite stubborn and simply lodged itself deeper under the skin. I was at my grandparents' house at the time and it was time to go home, so my aunt tied a handkerchief around the foot and I hobbled to the car. I was forced to only stand on my toes/the front of my foot, because 1) it hurt to put pressure where the splinter was and 2) I didn't want to make it go any deeper. For the most part I put my weight on the other foot.

This morning I realized that I was pretty much walking on the toes of my injured foot, and I wondered if I might be able to stand on my tip-toes with both feet. I could!! Not for long mind you, but I have actually regained the ability to stand on my toes from my body needing to compensate.

So, even if you think you've lost some mobility or function forever, don't give up hope. With some work and determination, there are still many things you can get back.

The Step

I looked up ahead of me and the quick thought of “Oh no!” swept through me. Others were passing me, taking on what seemed an unbeatable feat. I looked around for other possible options. None, and things weren’t looking good. I then searched for someone who understood my situation. Ah ha! My father was just a few yards away. I gave him a helpless glance and he gave me that knowing look that said “I’ll be right there”.

This is a situation that I’m faced with more times than I can convey. What could this horrible thing be? This thing that’s encountered so often? A step. Yes, a step. Over the past year or so stairs have become much harder for me, and most are relatively impossible for me to get up (alone) without a railing. Let’s just say this makes trick-or-treating a lot harder. It makes going over to friends’ homes a lot harder. It’s something that most people don’t think twice about, and don’t realize that I might need help with. This is where you have to be honest with people, let them know that you need their help, in my experience they’re usually very happy to oblige. I can be a little bit prideful, and I’m naturally independent so this can be hard for me.

Last week I talked to my physical therapist about the stair situation. I was saying how my dad thinks it’s a balance problem, but she thinks it’s a mix of things, including strength. She had me do numerous stepping exercises. She had me step onto these solid box things, with the box in front of me, behind me, and to the side -- this apparently works different muscles. It was extremely strenuous for me. Another lesson: Let people know when you need to stop/take a break! I didn’t. My legs hurt for five days. Steps were a horror with a railing. However, that just tells me that I really need to do these exercises. My dad found some wooden boards in the garage; he’s going to put a nail through the end of them and keep adding one more as I get better. (they’re about ¾ inch high each) This is a very helpful exercise for CMT, and I would recommend it if you think you might be having trouble in that area, or have been. Just take it a step at a time!

Stressed & Depressed - Aye Caramba!

I have heard that stress (and depression) can have a negative effect on CMT, and I agree with this 100%, from experience. It can be very hard for someone with CMT to not get overly stressed, when just having the CMT is stressful! If you have this problem, I feel for you, and I know what it's like.

When I get stressed (which also happens very easily), I feel like my body is flipping out. The feel of adrenaline going, but I also feel very weak and my body just isn't "working" correctly! Depression is also pretty common when you're going through anything that's emotionally straining. I've had to find ways to make my life as low-stress as possible, but while still going to school and trying to lead a "normal life". I talked to my teachers so they all understood the situation (I really recommend doing this, for anyone school-aged), and I'm also learning to just "go with the flow" a bit more (okay, I'm trying to...) and accept that things aren't always going to go the way I want, and that I'm not always going to be "part of the group" etc.

My main point is, you need to find what's going to work for you. Maybe massages after that hard day at work to help you relax, or maybe something like meditation would work for you. Find a support group that you can talk to (I'm always here!), that can do wonders. Medication might also be a good option to keep anxiety and depression at a low. Think of your body, care for your body, love your body.

Supplements

Supplements can be vital in the life of someone with CMT. In this post I will have a list that I got from Cathy, who has graciously given me permission to post it here. I met her on a site called www.charcot-marie-tooth.org (great site, great people, if you aren't already there check it out!). I will be quoting her and also occasionally adding my own comments in italics.


"I have done a lot of research along with a nutritionist to find the proper combination of
supplements to take that will ensure good health and energy for those having CMT. All of them
are safe and non-toxic for those who have CMT. The suggested doses are higher for us than for
others who do not have our disease. I buy mine on line at www.iHerb.com. They can get costly
but to me it is worth the money to feel the way I do. You can also research each supplement by
going to that site and clicking on Health Encyclopedia.

Supplements for CMT/MD

1) Evening Primrose Oil-1000mg-3x’s a day. This appears to be effective for neuropathy.
Pain and/or numbness due to progressive nerve damage. Works well with Alpha Lipoic Acid.
2) L-Carnitine-500mgs-2x’s a day. This is an amino acid the body needs to turn fat into
energy. Supplemental carnitine may improve the ability of certain tissues to produce energy.
This effect has led to the use of carnitine in various muscle diseases and heart conditions.
3) CoEnzymeQ10-150mg-once a day. This is found in every cell in the body and plays a
fundamental role in the mitochondria (the parts of the cell that produce energy). Also
excellent for the heart and hypertension.
4) Alpha Lipoic Acid (this is the most important supplement) 300mgs-3x’s a day. It is a
potent antioxidant, protecting nerves from the toxic chemicals throughout the root of neuropathy.
A recent study found ALA eased the burning and numbness of peripheral nerve damage. (this has been recommended to me by numerous doctors and people, it's sounds extremely beneficial)
5) Vitamin C-1000mgs-once a day. This is a powerful antioxidant. (from what I have heard and research I have done/looked into, mega-doses of this are being used and recommended, aprox. 7000mgs. I went up to 10000mgs at one point, but that amount gave me stomach aches, so be careful. I don't think I was on this long enough to see an effect, but I plan to start it up again)

For Pain:

1) MSM-1000mgs-2x’s a day. This is for healthy connective tissue and helps eases joint pain.
2) BioSil- 1 capsule daily. This is silicon that works for bones and joints to support, strengthen
and repair. It is also good for the growth of nails and hair, elasticity in the skin, and capillary
strength for the heart. I have been able to say I have little to no pain since I started taking these supplements in Sept. 2002."

A very impressive and detailed list! Thank you Cathy! I plan to start taking all of these soon, and will let you all know how it goes.

Hands & Occupational Therapy

My hands have always been "better" (less CMT-affected) than my feet, and from what I've read this is common/normal. However, a few months ago I noticed that I couldn't straighten some fingers out completely, and that I'd lost back and forth mobility in them. Naturally, this concerned me, and I eventually went to an occupational therapist. She said that typing had been excellent in helping my fingers' strength and dexterity!

She also said piano is wonderful for the same reasons. Ironically, my CMT is one of the reasons I quit taking piano. The teacher couldn't understand why after one summer I could no longer push her keys down all the way, I think she thought I was just being lazy.

Back to the occupational therapy. She gave me many exercises to do, including some wrist strengthening ones using putty she gave me. She also gave me hand splints to wear at night. In CMT, the tendons in the fingers tend to want to pull in, but you can't let them! You don't want to lose the ability to open your hands/straighten your fingers like I was beginning to. I realized that I was clenching my hands into fists while sleeping, so I have the splints to prevent this from happening. Only problem is when I wake up they're never on! Hopefully they stay on for a little while. I've also made a conscious effort to straighten out my fingers when they aren't doing anything. I have even recruited my parents to stretch them for me while we're watching movies!

After all of this, I have noticed a positive change, especially in being able to straighten the fingers. I had a wonderful occupational therapy experience, and I would strongly recommend anyone who thinks they might be having trouble with their hands/wrists to look into seeing one.

Myelin

How many people know what "myelin" is? Very few, from my experience. However, in the CMT world it's a very important thing. This is something that took me two years to really understand, because I couldn't find any easy-to-understand explanations, so I'm going to write one for anything else who might be having trouble with this. (Note: This is CMT1A I'm going to explain) Myelin is part protein, part fat, and acts as an insulator for your nerves. When signals are traveling through your nerves, telling everything what to do and all of that happy stuff, myelin makes it so that the signals don't "leak out". This is where CMT causes trouble, and things get a little more complicated. On "chromosome 17" there is a gene called PMP-22 -- this is what makes myelin. You get one of these (the chromosome) from each parent, but people with CMT1A have a double of one of them. (so they have three, instead of the normal two) This causes more problems then you would expect. You are then making too much myelin. This causes the myelin "sheath" (layer) to not lay properly on your nerves, so some areas can literally be bare.

To brace or not to brace?

This post will be about braces. Leg braces, to be specific. Something common in CMT is called "drop-foot" (I have this). Basically, it's harder for you to "pull your toes up", so you lift your legs higher to prevent tripping/falling. This makes walking a lot more work for someone with CMT, and they tend to fatigue more quickly. Of course, if they get tired, they might start to not lift their legs as high (this is all generally subconscious) and they will likely trip. Braces supposedly eliminate this problem. They make it so your toes can't "drop", and hopefully your gait will improve and you'll be able to walk for longer periods of time. Braces have been recommended for me many times, but I've always resisted. I think it's partly psychological, but I'm not sure how to explain it. If you wear long pants the braces are pretty much invisible, so for the most part no one would know, but I would know, and for some reason that is a problem for me. When making a decision like this you want to do what feels right to you, but also what is in your body's best interest. Another thing that the braces help with is keeping the tendons in the back of your ankle from getting too tight. This is why it is very vital to stretch there especially. I've been told that if I don't, I will most likely need surgery to lengthen the tendons in the next four or so years -- that's not good.

So for now I'm sticking to the stretching, and still thinking about the braces. Any advice is always appreciated.

Definitions and Me

What is CMT? First of all I'll give you wikipedia's quick definition of it:

"Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Though presently incurable, this disease is one of the most common inherited neurological disorders, with 36 in 100,000 affected."

There are many different types of CMT: 1A, 1B, 1C, 1D, 2A... etc etc. They are all different, but as far as I can tell, have similar effects. I have CMT1A, so I know the most about that type (it is also the most common, affecting approximately 80% of CMT patients) and will be speaking from my perspective.
To clarify wikipedia's words, CMT is genetic. Example: I have it, my father has it, his mother has it, her father had it, etc. However occasionally there is a spontanious mutation in the genes and someone has CMT without having a parent who has it. (this is very rare)

I will go into more details later, but now I'll tell you a bit about me and why I'm writing this blog. Through my teenage years I have researched a lot about CMT, to try to understand it better. I only really found out I had it when I was about 13, when I started getting nerve pains in my arms. I've found that most sites that talk about it are very hard to understand, so I want this to be something that people can look to for easy to understand information. This will also be a journal for me. I'll write about things I'm trying, changes, new research, etc. I hope that eventually people will understand this disease (ugh, I don't like that word) better, and that together we can find a cure for it.

-Char