Life With Charcot-Marie-Tooth

Handicap doors, a dance with the devil

2007-07-07T09:06:00.000-07:00

I started attending our local community college earlier this year. I knew it was going to be a big change for me, but my one real worry was whether I'd be able to get around the campus safely and effectively; though the campus is not large compared to the big University I live near, it's dramatically bigger than the 100-student high school I came from. Since there are multiple buildings on campus, and I have a finite amount of energy, it is actually really important that I head in the right direction.

To my relief, the large campus has not been a big problem, and one of my parents is always available if I need to be driven to one of the farther buildings (I don't drive yet, so they always pick me up).

One thing the campus has that my high school did not is a lot of automated handicap doors. Although they seem friendly at first, do not be fooled, an automated handicap door is actually a dance with the devil. A few weeks ago, the devil gave me a taste of my first public fall. But not just a public fall, a nuclear public fall, that is a public fall where there is no obvious way to get back up and no one is around. Falling like this is one of my greatest present fears, especially the realization that I might not be able to get back up.

Here is the story. I'd just gotten out of class an hour early and it was the end of the day, so I was feeling pretty relieved and ready to just get home and relax. I walked down a few long halls while rolling my school bag steadily behind me; I took my time, knowing my ride wouldn't be there for another 15 minutes.

I finally reached the two sets of large glass doors, and casually pressed the handicap button to open them for me. Never assume the handicap doors are your friends, let alone safe--I learned this the hard way, for as I was walking through the doors (at a slow but steady pace, not unusual for someone actually needing this feature), one of the doors decided that time was up, it did this all on its own without consulting me. Wham. Shutting while I was still in the door obviously came as quite a shock, and, giving the devil his due, I promptly fell over very hard on my knees.

I'd been in similar situations before, and knew the steps to follow in handling it.

Step #1: Take a moment and check yourself for severe injuries before proceeding the attempt to relocate and eventually get back up.

I was relieved that I appeared to have no real injuries, although my knees had taken the force of the fall and were notably and understandably sore.

Step #2: Check your surroundings.

Still in front of the doors, blocking the path should someone come through them, I could imagine being cut cleanly in half if someone else choose to press the dreaded handicapped button. In fear, I slowly scooted myself off to the side where I could more clearly contemplate the situation. For me, I usually need something like a chair to pull myself up with--otherwise I'm pretty much screwed. A quick glance around proved that there were no chairs.

With CMT, you are forced to get creative. If there isn't a chair, then you have to use your head to find the best alternative, and figure out how you're going to get through each new difficult situation you're placed in.

Step #3: Formulate a plan.

It may sound like I'm taking way too much time in getting up, that I should just be calling someone for help or grabbing at any object in sight, but in my experience, you want to know everything about the situation, all the options available to you, and make sure you don't get yourself into a worse mess. Anyway, with CMT, you learn that there's no need to rush.

There were only three objects around me that were solid and might provide some assistance: my bag, a pillar, and a wall. Oh wait, there was a fourth object, my cellphone. I found my cellphone in the bag and quickly phoned my mom, letting her know she might have to find me and provide me with some assistance since she was coming to pick me up anyway; I also told her I'd be working on getting up. The pillar was immediately ruled out as something that could help me out. The wall, however, was not completely flat and had various ridges which I hoped I could pull myself up from.

Step #4: Initiate plan.

I got on my knees, and soon discovered I'd hurt my knee much more than I'd originally thought. I could almost hear the evil door laughing. I was scared to put too much pressure and weight on it, and after fighting and pulling at the wall for several minutes, I gave up that plan of action.

I should mention that being as proud as I am, whenever anyone would walk by I'd cease my efforts and pretend to be casually sitting there and riffling through my bag. Adding other people to the situation also just complicates it. People are often very sweet and will often you "a hand" when you fall, but for me that's not very helpful. On more than one occasion I've had someone almost rip my arms off trying to "help" me get up. No thanks.

I turned to my bag. If you looked at it the right way you could almost imagine it was a little stool. My last hope, as far as doing this myself was concerned. I got into position, my stool, my savior, but to my dismay, my bag started to roll away when I'd try to push off it! Those wheels, normally so helpful, do not make for a very stable stool. But like I said, you have to be creative, so I tried laying the bag on its side. This worked much better, but not well enough--it wasn't quite tall enough.

Finally I was beaten, and leaned against the wall as I waited for my mother to get there. She arrived before long, but after a few minutes of discussing the situation and her pulling on my arms (see, I told you so), we were at whits end. A kind man noticed our peril and offered to help. At this point, I didn't bother to hesitate. Pride be damned. We explained I was having trouble getting up, that I'd fallen and hurt my knee, and had had troubles with it before (which was true, and I didn't see the point in trying to explain CMT). Before we knew it he'd called over a security guard. I could see already that my little fall was turning into a big event. I was now getting much more attention than I had wanted. Security guard #1 and the man talked about how to get me up and questioned me. They were talking about me while using their security radios and calling for more backup! Meanwhile, my mom checked inside the building for a chair, which we hadn't thought of before. She brought one out and they managed to help me up onto it--it was harder than usual since my knee was rather banged up.

Within another minute, backup arrived, two more security guards showed up in their vehicles, first aid kits and all, communicating on their walky-talkies and declaring they'd been "dispatched" and the "situation was under control" and "the girl is now on her feet and doing okay." This was all said very loudly, just in case anyone withing 100 yards had not yet heard. I was questioned some more and they then allowed my mother to drive up right there so I wouldn't have to walk as far as the parking lot. Mission accomplished, you could tell they were happy to actually have something to do.

Step #5: Relax and remind myself to never trust handicap doors again.

I'm just me

2007-07-06T19:56:00.000-07:00

I've had Charcot-Marie-Tooth my whole life, but once I officially found out I had it I felt like was a different person; I wanted to be normal again. I've heard "Ignorance is Bliss," and in this case I really felt like that. Maybe if I never found out it'd just disappear, and I wouldn't be forced to cope with it and eventually accept it. Only recently have I seemed to realize that I never became a different person, that I've always been me, and that's all I'll ever be.

Throughout the last few years, whenever I'm going to be around a new group of people (like in a new school) who don't know me or my physical history, I promise myself that I won't let them find out and change how they think of me. CMT will NOT define me, I say.

And yet somehow I always end up telling people, and they end up finding out many details about my "adventures." Do I let CMT define me with these people? No. CMT will never and has never defined me, but it has helped to make me the person I am today and is an important part of who I am. If someone is really going to know me, then they should know my CMT too, a very intimate part of me.

Your Story

2007-01-25T08:42:00.000-08:00

Dear CMTers,

I apologize for not blogging as often lately--life has been rather hectic, which I'll explain more in the Patella Trials "series".

When I first had the idea to create this blog, my first job was to think of a title. I figured that "Life With CMT" was appropriate, since that was what I was going to write about, my life with CMT. However, I think that to really understand CMT (and I do want more people to understand it), you need to hear more than one person's story. So I'm asking you to give me your story. Tell me your life with CMT. Depending on how many stories I can collect, I'll most likely either put them in their own posts, or have a section for them when my website is finished.

Let me give you some more details for those of you who think this is something you might want to do:

Please include which type of CMT you have, if you know.
Let me know if I should include your name or leave it anonymous.
You can either write it like a mini-bio, or do it in an interview form. If you'd like it to be more of an interview, which is fine, you can have me email you a list of questions to get you started. Some examples-
When did you begin to notice signs of your CMT?
When were you diagnosed with it, and with what type?
How has it affected your life and what ways do you use to deal with it?
etc.
Write it however you feel most comfortable.
It can be as long or short as you like.

You can email me your story at lifewithcmt@gmail.com, or my personal email, rainbowblast@comcast.net. Just make sure to include CMT in the title of your email.

If you have any questions or comments, please either leave them in a comment in this post or feel free to email me.

Thank you all!

Patella Trials Part II

2007-01-09T19:03:00.000-08:00

In no time I was being wheeled through a hospital hallway. My pain had been less due to the medication, but that state of slight comfort left quickly. Muscle spasms soon started erupting in my dislocated knee sending me into pain more excruciating than I had ever imagined, or thought I’d be forced to experience. I was now screaming in the seemingly perfect rhythm that the spasms came. I could feel the staff wheeling my stretcher start to go faster.

Finally we made it into my own private examination room. The spasms had mostly subsided but they still gave me a very large dose of morphine – I did not discourage them from the task. Unfortunately, it wasn’t long though before the spasms started again and I was screaming again, even drugged with all of that morphine. I was begging them to give me something else to take it away. However, in order to do this my dad had to sign a special paper giving his consent, before he signed he looked at me and asked “So, what is it worth to you?” I was not amused, he signed, and they gave me a large dose of yet another drug. Ahhh, bliss.

I looked up at the TV in a corner of the room—the University of Michigan football team was playing. I looked down at the now blue and yellow paint stained sheet I was laying on; coincidentally, Michigan’s colours are maize and blue, and every staff member who touched me got a little extra of the school colors on their already maize and blue uniforms – I was in, after all, the University of Michigan hospital. Then one of the doctors started poking around my knee, drawing my attention away from the TV. Before I could realize what she was doing she popped my kneecap back into place. Fortunately, the pain was minimal after all that medication.

Next I was wheeled to another room to get X-rays of my knee. Apparently there is a 30% chance of fracturing something with this type of injury, but thankfully I was “fine” in that respect. After that they put an immobilizer on my leg, gave me a pair of crutches (even though I can’t use them even without the injury), and well, pretty much just sent us on our way.

Once we’d gotten me into the back seat of the car (with assistance), my dad suddenly piped up, “Wait, now what are we gonna do?”

Patella Trials Part I

2006-12-16T08:21:00.000-08:00

"Ambulances are a lot smaller than I imagined," I thought to myself, "But I guess this stretcher takes up a lot of room, and all of the supplies in these glass cabinets…"

Suddenly my train of thought was interrupted by a hard pressure on my arm; "Ah, they're just taking my blood pressure—again." As the rubber tightened around my scrawny biceps I tried to think back about how this had all come to be.

Earlier this Saturday morning I had happy headed of to school for drama club practice, opening night being only five days away. I'd been painting the backdrop for the set with a few other girls between time on stage practicing my lines. I was admiring our painting skills as I started to try to make my way around all of the paint jars, brushes, and various other supplies scattered around the floor. While I was still standing I felt my right leg suddenly tighten up completely. This didn't strike me as too odd or worrisome at first, even though this usually happens when I'm laying down. But then my leg started to be enveloped in an increasing pain. I tried to move it, but I couldn't. I couldn't keep my balance, and I fell backwards. The other girls in the room ran over to me, making sure I was all right. I auto assured them I was, but then I became aware of the intense pain yet again. I finally pinpointed the source of the pain to be in my knee, so I pulled my skirt up over it slightly to check it out. I yelped. I was horrified. The middle part of your knee that jets out was… gone—sunken in. Instead, that "bump" was on the outer side of my knee. It was horribly disfigured and not a pleasant sight for me. One of the girls there calmly told me that my knee cap had popped out, and that she'd had it happen to her before. She said I needed to straighten it so it would pop back in (my leg was bent around a jar of paint), but I refused. I wanted a doctor, or someone with some sort of experience/authority. The girls there were amazing though. They called for help, got me some pain medication, held ice against my knee, propped me up, stroked me, and reassured me that everything would be all right in soothing tones. They also cleaning some of the paint off of me—When I fell I hadn't realized that I knocked over huge jars of paint that I was now sitting in, I was literally drenched in the stuff.

When the drama teacher found out what had happened and saw my knee she called my dad, who's had this injury three times. He originally said not to call an ambulance since the hospital was less then a mile away and he rushed over (he had his knees pop-out three times). Once he got their he realized that it hadn't popped back into place, I was unable to move, and I was soaking in paint - so we ended up calling an ambulance. They arrived soon and were very nice and professional, quickly giving me an IV of a strong pain medication. They had to give me two doses to cut down the pain enough to tie my legs together and load me onto a stretcher bed. Then they proceeded to wheel me out of the school and load me into the ambulance.

"We're here." It was one of the paramedics. We were at the hospital. My knee was still not in place. I was dripping in yellow and blue paint, and the next phase II of my trial was about to begin.

Website

2006-11-08T03:49:00.000-08:00

I'm currently working on plans to create a CMT website. Even though I try to include useful information in my blog entries, I would ideally like to have a wide-range of good information easily accessible to you (that is also easy to understand for those of us who aren't scientists!). I have other plans for the site as well, but you'll just have to wait and see!

If you have any comments and/or ideas, you can email me at lifewithcmt@gmail.com or post a comment here. Also, if you are a good programmer and would be willing to help with some more advanced features later on, please let me know!

Thank you!

Trick-or-Treat Pleurisy

2006-10-31T17:05:00.000-08:00

Princesses, Witches, Angels, Goblins, Faeries, Charcot-Marie-Tooth, Pirates--wait a minute, where does CMT fit in there? Oh, right, it doesn't.

This is my first year not trick-or-treating. I am in high school though, so I haven't had to give anyone a reason for not going (the real reason). When I went last year I had a lot of trouble getting up the steps to the doors (pretty much all of the houses here have at least one step up to them), that was when my CMT was really starting to show itself. This year I just don't feel it's worth it. Steps are harder for me than they were a year ago, and I don't really need all of that candy anyway! So we're staying in, but we still carved a pumpkin, made cupcakes, and the pumpkin seeds are cooking in the oven.

But that's not what the real topic of this post is about!

In my last post I mentioned how I'd had stabbing chest pains. I still have those chest pains days later--luckily most of the time they're bearable.

I've found that it is very easy to just blame CMT for my aclectic health problems. Let's face it, CMT can cause all kinds of different problems! Does this mean I should blame my need for glasses on my CMT? (I've heard CMT could possibly cause vision and hearing impairment) I could, but I could also admit that bad vision runs through the CMT-less side of my family. My point is, it may be that CMT isn't causing some of your problems, and I'd recommend looking into other possible causes, because those might have possible treatments.

I mentioned the chest pains to one of my science teachers (who I've been talking to about CMT stuff), and after asking some questions she concluded that I probably have Pleurisy.

From wikipedia:
"Pleurisy, also known as pleuritis, is an inflammation of the pleura, the lining of the pleural cavity surrounding the lungs, which can cause painful respiration and other symptoms. Pleurisy can be generated by a variety of infectious and non-infectious causes."

Pleurisy can develope after a respiratory illness, and I did have a bad cold quite recently. So I thought that was an interesting bit of information, as I'd never actually heard of Pleurisy before, so I just thought I'd share that with y'all!

Happy Halloween!

Hard Times

2006-10-29T14:12:00.000-08:00

As I was walking over to a building I saw my reflection in one of its many windows. I gave myself a funny look. Who was this withered looking girl hobbling down the sidewalk? Surely this girl couldn’t be me. I tried to shake the image from my head and kept on walking, refusing to look at any more windows.

Finally I made it into the building. I was there to see a Shakespeare play (Julius Caesar) with a bunch of other people from my school. I soon located my group and waited to be led into the theater. Suddenly I was reminded…stairs. Theaters tend to have stairs! I maneuvered my way over to one of the head teachers (all of the school faculty know about my CMT). I told him that I was expecting stairs in the theater and asked him to make sure I survived them. He was very kind and happy to oblige, and explained that you had to go downstairs to get into the theater. This was great news! Going down stairs is so much easier! For some reason at the time my brain didn’t make the connection that this meant I’d have to go back up the stairs when the play was over.

The play finished. I’d enjoyed it. Then the realization of the “stair-situation” struck. Uh-oh. I was only four rows from the bottom too. As a man called out the schools one by one to leave the theater, I scanned my eyes up the stairs; the stairs weren’t too high, but there were a lot of them. Then I heard my school’s name called. I made it up a few stairs and then my legs just quit--I couldn’t do it. Luckily one of my school’s head faculty saw my dilemma and came over to assist me. I don’t know what I would have done without her, maybe I would have had to crawl up the stairs. She let me lean on her and almost pulled me up the stairs one by one--it was still a long trek, and I swear I heard some guys a bit of a way behind us saying “MOOOVE!”. She said I’m a real trooper.

So I made it through, but it was very emotionally and physically frustrating/stressful.

I cried myself to sleep last night. I’m scared. My walking is continually getting worse, and to be honest, I worry about how much longer I’ll be able to walk at all “reliably”. Today I couldn’t walk without pain. I feel like I’m just watching my body disintegrate more and more each day. Today I also got some excruciating chest pains, that lasted well over an hour. They started in several places around my chest/upper stomach, and then settled in the middle of the top of my diaphragm. It felt like someone was stabbing me with a knife over and over, and some trouble breathing came with it. I honestly don’t know what it was from. It could be CMT, as I’ve heard several times that CMT can cause breathing difficulties and chest pain. Either way, they worry me.

I’m starting to look for a really good CMT doctor. If anyone knows of one, please let me know. I’m looking for someone who will really work with me, and knows what they’re talking about. I’ll be doing a lot of research on doctors and I’ll post any interesting results I find.

The Art of the Fall

2006-10-22T11:39:00.000-07:00

I watched shoes walking past me and car wheels zooming by; well, I didn’t want my body to lie here sprawled out on the pavement forever. It was time to collect myself, dust off, and find some way to stand up.

Falls. Falling is something common to the CMT life. “Everyone falls sometimes”--maybe so, but probably not quite so often. “You know,” my father said one day trying to get me to consider braces, “some people go a decade or more without ever falling.” I didn’t believe him. It was simply an idea out of the realm of my experience. I can honestly say that I don’t fall as often as I used to; however when I proudly proclaimed this to my father, he correctly pointed out that I don’t walk nearly as much as I used to either!
I’ve been told to learn to “laugh at myself” when I fall--this seems to be common advice, but I just can’t think of me falling as funny (at least not at the time), or even pretend to. I am guessing the people with the “laugh at yourself” advice never had a problem with falling. Or, it might be easier to laugh at an occasional fall if I didn’t know it was connected to my CMT.

Falls can be very difficult, embarrassing, and they tend to take me by surprise. Now, I trip all the time, but my body has learned to use everything in its power to keep me vertical (this still tends to end up in a lot of twisted ankles). Occasionally, though, there is no hope in staying upright, and I simply have to let nature take its course. It’s times like these that I have learned to turn falling into an art form.

Here’s one of my favourite stories to illustrate:

I was walking down one of the halls at school. It’s almost the end of the day and I’d aced that math quiz. I was feelin’ pretty good about myself--“Yeah, I’m smooth and life is good.” Then, suddenly, my day took a turn. As I was gliding down the halls I felt myself starting to trip and lose my balance (from some unknown reason, since there really wasn‘t anything I was tripping over, except the floor) In that split second I realized that there was no hope in preventing this fall, but I could try to not make a big scene out of it, I could practice the art of the fall and, hopefully, try to keep my self-respect intact. Instead of going face first, I started to fold my legs in, as though I just decided at that particular moment to sit cross-legged in the middle of the hallway. Slowly I drifted down, falling, but artfully so into a perfectly formal cross-legged position. As luck would have it, this occurred directly in front of my locker! To complete the performance I grabbed my backpack and pretended to look for something in it. Performance complete. Self-respect in tact. After several minutes I realized it was time to work on getting up. The art of the stand is as complicated, perhaps even more so, than the art of the fall. I scanned the hallway for something of assistance. Nothing. I peeked around into the classroom next to me--only a couple people were still in there and they were busy talking. I quickly crawled in there when no one was looking (or so I hoped!) and used a chair to pull myself up. Self-respect? Maybe. Feeling smooth and good? Eh, maybe not so much. But hey, everyone falls, but only those of us who fall regularly get the opportunity to turn it into an art.

Lions and tigers and doctors! Oh my!

2006-10-04T07:50:00.000-07:00

A couple of months ago, because of how poorly I was feeling, I decided to give going to doctors another shot. I chose one whom I had gone to when I was younger, about my chronic stomach pains. He didn't really help at all, except when he had me get IVs of B12 (for energy) once a week. However, apparently he's very knowlegeable, and now that I know about my CMT it seemed like it was time to give him another shot.

So when I first saw him again, we went over my medical history and current problems. I told him I have CMT and he said he "knew what that was," but insisted there had to be something else going on in me (like a virus), because CMT couldn't cause such severe problems (fatigue in particular). I completely disagree with this statement. After all my research I've found that the range of severity in CMT is enormous. I see no reason that it couldn't easily be giving me the problems I have. However, I didn't verbally chastise the doctor, and instead decided to do the blood tests. I did want to look into an auto immune problem, since it's strange how my CMT suddenly acted up when I got sick at eight (see my post "My Story"). I find going to doctors about CMT very difficult, for these reasons: Doctors who are not specialists in this area know little to nothing about CMT, and doctors who are specialists (at least the ones I've been to) only offer me a prescription for a pill or a number to get braces fitted. I want answers! I want to feel like I used to!

Back to my story...
Yesterday I went to this doctor again to discuss my test results. First he told me that he checked my blood cell counts, and they're all in the normal range, but some (T helper cells were one) are on the low side. Basically, I have a weakened immune system, and I get sick easily. He offered no real solution. The other thing he found is that I'm very low in DHEA (a hormone). Why am I low in DHEA? Because of "adrenal gland stress," which can come from either physical or emotional stress. (The adrenal gland makes DHEA.) He said that I have about 1/3 of the amount I should, and that I'm very low for my age. So what does this cause? 1) Fatigue. 2) It makes it so that I don't deal with stress well. I can't handle stress, and I'm very easily stressed out. He said that if we fixed this, "things just won't bug you as much." Sounds nice!

So he's going to give me a prescription for DHEA. This still doesn't help my CMT problems, but I'm thinking that having more energy would definitely make life easier, and as I've said before, stress is very bad for CMT, so.... wish me luck!

Walking, feet, and shoes!

2006-09-15T10:22:00.000-07:00

The new school year has started for me, and that means I'm being forced to be active! (not active at all really, but I do have to walk around some.) Unfortunately, I've found walking has gotten a lot more difficult for me. When someone asks me to stand up, I can hardly concentrate on anything but when I'll get to sit back down. Standing didn't used to be a problem, but it also depends on how long I have to stand. I tend to stand on the outer sides of my feet a lot.

Speaking of feet... CMT feet facts:
High arches are highly common in CMT, and are often the first sign that someone has it. However, "flat feet" are occasionally seen.
"Hammer toes" can also occur in someone with CMT: "A hammer toe is a deformity of the second, third or fourth toes. In this condition, the toe is bent at the middle joint, so that it resembles a hammer. Initially, hammer toes are flexible and can be corrected with simple measures but, if left untreated, they can become fixed and require surgery.
People with hammer toe may have corns or calluses on the top of the middle joint of the toe or on the tip of the toe. They may also feel pain in their toes or feet and have difficulty finding comfortable shoes. "

My feet are pretty good examples of CMT feet. I have very high arches, and toes that are trying to become hammer toes, but I won't let them!

Now, I blame my walking troubles partly on shoes. When I'm not wearing them I can walk much easier (with less falling troubles/worries), so they have to play a part. Shoe shopping is a dread for me. My feet are very hard to fit, and a lot of shoes with high heels or no heel support I just can't walk in without falling head first! I've started to get used to the fact that I'll never be able to wear beautiful strappy heels, but I still need to find shoes that work for me. A lot of shoes recommended for me are, well, "not stylish" to say the least. Hey, I'm a teenage girl, I have to have some standards, right? I've come to the conclusion that my problems with walking in shoes are due to two things (mainly). 1) The slight heels in my current shoes and 2) the fact that I think I've lost some feeling in the bottom of my feet. I can feel the floor below me a lot better without a shoe platform separating my foot from the floor. So here's what I've come up with: Slipper shoes! Basically like slippers/swimming shoes, that cling to the foot and are thin on the bottom, but still offer basic protection. Now I just need to find them :)

Also, if anyone has any ideas for posts, or something you'd like me to write one on, you can email me at rainbowblast@comcast.net or let me know in a comment here.

My Story

2006-08-26T09:45:00.000-07:00

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

2006-08-23T10:09:00.000-07:00

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

2006-08-19T19:22:00.000-07:00

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!

2006-08-18T16:11:00.000-07:00

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

2006-08-18T10:04:00.000-07:00

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

2006-08-18T09:03:00.000-07:00

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

2006-08-17T19:07:00.000-07:00

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?

2006-08-16T09:05:00.000-07:00

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

2006-08-16T08:43:00.000-07:00

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