Symptoms & Shiz: Charcot-Marie-Tooth Awareness, Part 2

There are a whole bunch of different possible symptoms of Charcot-Marie-Tooth.

If one of us went down, so did the other. #unity

Some of the most common early symptoms, often appearing in people who don't even know they have the disease, include

• Foot weakness and numbness 
• Foot deformities such as high arches and claw toes
• Muscle loss in the lower legs
• Balance problems
• "Foot drop" (difficulty lifting the front of the foot)
• Reduced reflexes 

I've had all of those symptoms for as long as I can remember. From a very early age - before I started preschool - I began wearing leg braces called AFO's to support my legs and ankles while I walked, prevent tripping due to foot drop, and slow the development of deformities in my feet.

Not pictured: I had tie-dye braces in middle school. I was the coolest.

 Just a few months ago, I learned that not everybody is subject to this test every time they go to the doctor. I'm still convinced it's pretty common, but for anyone who doesn't know, it's called a reflex test, and it involves a medical professional hitting your joints (usually knees, elbows, and ankles) with a little hammer-like tool to check your reflexes. I fail this one pretty hard, but they persist in doing it every single time. Optimists? Sadists? I'll never know.

On a related note, one test I haven't always failed is the one where they ask me to squeeze their fingers as hard as I can. Especially if it was after the reflex test, I used to have one heck of a grip.

If you kick them, you're good.

Two of the other main symptoms I had as a young child were hip dysplasia and scoliosis. These symptoms are mostly seen in people with "severe" CMT, which is definitely me. Neither of these were discovered by doctors until I was ten, but they were probably there all along.

How that discovery was announced to me:

Doctor, reading my x-ray: Oh my god, look at that spine!

Other doctor: Forget the spine, look at those hips!

Smooth. 

Throughout middle school, I had a series of surgeries to put pins and rods in my hips and spine. Plus two extra surgeries to fix mistakes the surgeon made, but that's another story. The end result of those surgeries was that I was going to be in a wheelchair for the rest of my life. That was bound to happen either way, but I reserve the right to be a little bit bitter about how it went down.

Middle school: The BEST time to become dependent on a wheelchair. ;)

In high school, I needed another surgery to help with the deformities in my ankles and feet. It was called a "triple tendon transfer," and it gifted me with flat, rectangular feet, rather than the high arches typical of CMT. I was offered the option of an additional surgery to correct my hammer toes, but I opted out. (Click this link to find out why. Maybe not while eating. Ain't no straight toes worth that, thank you.)

All of those same deformities eventually occur in the hands and arms as the disease progresses. So far, I just have muscle weakness and a barely-noticeable (please don't tell me otherwise) deformity in my wrists. Basically, I can no longer open jars, reliably pick up small objects, or squeeze my doctor's fingers to the point of breaking, and my hands get tired pretty easily when I write by hand. (I can still type just fine, thank goodness.)

He appears to be making more progress with that than I ever could.

Some of the other symptoms I have include tremors; constant burning and tingling nerve pain in my fingers, feet, and legs; lessened ability to detect and adjust to temperature changes; constantly cold feet and hands; dry skin; hair thinning in affected areas (which does not yet mean no shaving my legs, sadly, but I have hope); a lessened sense of touch in my fingertips; foot numbness; difficulty breathing due to a weakened diaphragm; and partial hearing loss.

I have to check my feet and legs often for injuries, because I don't always notice when I'm hurt. Injuries that do occur heal very, very slowly or not at all - I've had a bruise on one of my toes since October, and a bug bite I got on my foot in July seems to be a permanent scar.

Overall, the symptoms of Charcot-Marie-Tooth are a pretty huge part of my life. People tend to frown on saying that an illness defines you, and there are definitely other more important factors in my life, but having this disease has had a major role in shaping who I am. How could it not?

These two awesome videos show the lighter side to living with CMT. Highly recommend.

You Cripples Think You're So Special

Today I went to Walmart. (What a mistake, right?)

When I was parking, I noticed an alarming tendency for cars to be parked in the ramp spots next to handicapped parking places, so I chose to park in a spot where I thought it was unlikely to happen because the ramp spot was too small to fit a typical-sized car.

That was a nice thought, but it didn't work out as well as I hoped.

Fast forward to when I'm ready to leave. A car is, of course, parked just close enough to mine that I can't get onto my ramp once it's down. (Please note: This happened 5 total times in the 3 years I lived in Morgantown, but it's a regular occurrence here in the cesspool known as Allegany and Mineral Counties.)

Now, I'm not the world's best parker. I've never parked illegally, but I've definitely been guilty of parking sloppily enough that people have probably been annoyed. So I am generally pretty nice about this kind of thing, despite my inner (and insta) frustration.

Today was no exception: I decided right away that I was going to be pleasant and friendly and say absolutely nothing about it to whoever owned the car, trusting that just seeing me there would shame them into being better in the future.

That approach has never failed me before.

This time, however, it wasn't to be. The owner of the car happened to be the meanest little old lady I've ever met.

When she came out of the store, I smiled at her from where I was sitting (with my feet on my own car), said hello, and went back to texting while she loaded her groceries into her car. She put her buggy away -- allllll the way back in the store, because she's much more responsible with buggies than with cars -- and then returned.

"WHY ARE YOU SITTING BY MY CAR?"

<This is someone's grandma. Smile.>

"Um, this is my car, and I'm waiting for you to move yours so I can get in it. I need that space to put my ramp down."

"Don't you sass me, you little piece of sh*t!"

<She's someone's senile grandma. Smile.>

"I'm sorry, ma'am."

"You cripples think you're so special! You get everything just handed to you! Other people need to park too, you know!"

<Force a smile and don't open your mouth, Heather.>

"You f***ing little piece of sh*t! People like you shouldn't even be allowed to go out by themselves!"

<Okay, this grandma was probably in the KKK, a glare might be okay.>

"I should call the cops!"

"Um... for what, exactly?"

"You're just sitting here next to my car!"

<Senile grandma, senile grandma, senile grandma.>

"I'm waiting for you to move, ma'am."

"F*** you! [unintelligible muttering] Cripples think they're entitled!"

<My momma taught me not to curse.>

"Okay. I don't want to argue with you. Are you ready to move your car?"

"YOU CAN'T F***ING TELL ME WHAT TO DO WITH MY CAR!"

"... right."

So I decided to go back into the store, because some crazies just aren't worth fighting with and Senile Grandma couldn't stand there and curse into thin air forever. As soon as I turned to do so, she got in her car, slammed the door, and sped away.

Good riddance.

Anyone who says ableism isn't real, I invite you to look up Senile Grandma. She'll set you straight.

The worst part of my day? Walmart didn't even have washi tape.

How am I supposed to Mormon without washi tape!?

The Basics: Charcot-Marie-Tooth Awareness Month, Part 1

Everyone who's too scared to ask why I'm in a wheelchair, this is your lucky month. ;)

http://www.cmtausa.org/

I was born with a disease most commonly known as Charcot-Marie-Tooth. Other more descriptive names for it, for you scientific folks, are Hereditary Motor and Sensory Neuropathy and Peroneal Muscular Atrophy.

Most of you have probably never heard of CMT before, but it's one of the most common diseases you've never heard of, affecting an estimated 2.8 million people worldwide, about 1 in every 2,500 people.

Charcot-Marie-Tooth is an inherited disorder, meaning it is not contagious, nor can it be developed late in life. Everyone who has Charcot-Marie-Tooth was born with the disease, although many people don't know it until they're in their late teens to early 30's. The vast majority of people who have CMT inherit it from a parent who either has the disease or is a carrier for the gene that causes it. In rare cases, a child is born with a spontaneous mutation of the CMT gene, despite having no family history of the disorder. These individuals are then able to pass the disorder on to their own children.

Symptoms of Charcot-Marie-Tooth vary greatly based on the "type" of the disorder (the gene mutation) and even between family members who have it, but some of the most common early signs are

• Foot weakness and numbness
• Foot deformities such as high arches and claw toes
• Muscle loss in the lower legs
• Balance problems
• "Foot drop"
• Reduced reflexes 

Charcot-Marie-Tooth is a progressive disease, so many people are born with no symptoms at all and develop them later. My parents knew I had it by the time I was a toddler, but I have relatives who haven't experienced any symptoms until their 20s or 30s. 

There are currently no treatments to slow down or reverse the progression of the disease. Symptoms can be managed using leg braces, surgeries, physical therapy, and pain medication, but the disorder will continue to progress. There is some research being done into treatments for CMT, and prospective parents who have the disease are able to obtain genetic counseling to learn about their chances of passing it on to their children.

Do you have questions about CMT? I want to answer them. 

God provides.

Moving across the country by myself is not the most stressful thing I’ve ever done. But it’s close. So I’ve been pretty magnificently stressed out about it. Finding an apartment that's wheelchair accessible (easy in Morgantown [as in I did it in an hour last summer], apparently not so easy anywhere in Northern Utah), convincing myself I can safely drive across the country on my own (still not entirely convinced, decided to do it anyway), getting my unreliable but still beloved car ready for the trip (someone remind me to get an oil change this weekend, please and thanks), hashing out the protocol for flying with a power chair with AmeriCorps' lovely travel agents (I. Hate. Airports.), convincing my parents I'm not going to end up homeless somewhere in Iowa (ok, they're not convinced, and neither am I), working out the costs and realizing I can just barely financially survive the next few weeks until I get my first stipend, finding another apartment because the first one fell through (at least now I have a potential roommate)... it's been, realistically, about as stressful as I expected it to be. 

That said, it hasn't been over the top stressful because of one thing: I know that this is what Heavenly Father wants me to do. I don't have the slightest idea why, but I know that this process is being divinely guided. Every time I get to a point where I feel like throwing my hands up and saying, "You're right, I can't do this," God throws me a bone. That doesn't mean the problems get fixed, but I get just a little bit of inspiration that helps me step back and put my anxiety-ridden heart back in place. 

When I was freaking out because maybe I've never received real revelation in my life because I'm a sinner and I'm not sure if this is really what God wants or if I just fabricated it myself because I like to make life more difficult, I suddenly discovered that I say my best, most heartfelt prayers while driving, and that personal revelation I was doubting flowed more forcefully than ever somewhere between the West Virginia Welcome Center and Coopers Rock. 

When I was in need of a reminder that I'm strong (read: stubborn) enough to survive this next year of serving a community I know very little about 1949 miles from home, my grandma gave me a card from a family friend who probably knows me about as well as anyone, reminding me that not only am I strong enough, I'm also prayed for. 

When I was worrying about being alone and sick in a strange place, well, I glanced at Facebook and remembered that I'll have at least half a dozen friends within an hour's drive of wherever the heck I end up living, and that's five more than I had when I moved to Morgantown three years ago. Someone will help me put together furniture or bring clean clothes and a phone charger to the hospital or whatever crisis comes up my first week. (Right?)

And when I was nervous about whether I could stand up for what I know I need to do even though it's crazy and it seems like everyone around me knows it, the still small voice stood on its tippy toes and shouted up at me, "READ YOUR PATRIARCHAL BLESSING AGAIN!" (Sometimes I imagine the still small voice as starring in Horton Hears a Who.) And I suddenly realized that every word in my patriarchal blessing was meant for today, just as much as last September and five years from now. 

I can... probably... do this. Not on my own power, because really all the power I've got is a mile-wide stubborn streak, but on the power of the one who sure seems to want it from me. My patriarchal blessing claims that I have the spiritual gift of faith... I'm not so sure about that sometimes, but I'll bank on it for now.

I'm going to be really annoyed if this is another wrong road, Heavenly Father.

Peace, peace, be still.

When I was 18, I was diagnosed with an anxiety disorder. I’ve been fortunate because over time, the symptoms have vastly decreased. They’re still there sometimes, but I can recognize them when they’re happening and calm down without locking myself in a closet. I’m not sure that I’ve ever even had my entire body in the closet of my current apartment, and I know for a fact that I’ve never closed the door. That’s a pretty big accomplishment, given some of the things I’ve been through in the past year.

One of the biggest targets for my anxiety as a teenager was storms, after a particularly awful one took out part of the roof of my home. My fear grew to the point where, at age 18, I would shake and tear up and forget how to breathe if it rained too hard. If the weather called for thunderstorms, I would spend the entire night sitting on my bed refreshing a weather map. Spring and early summer were not a good time for me, man.

Just a few short years later, I’m doing so much better. I can go outside in the rain, shrug off a tornado watch, and only need to be holding my cell phone and not an umbrella to open my front door. There have even been a few times recently when I’ve gone to bed without first checking my laundry room for potential rapists or murderers (it’s a totally rational fear). The last panic attack I had was in September, and frankly, I’d like to see just about anyone live that day in September without hyperventilating. ;)

For the most part, anxiety isn’t something I think about anymore. Every once in a while, though, I feel that familiar tightness in my chest and the normal background noise around me becomes louder than the constant ringing in my ears. It goes away within seconds, but it’s a reminder – not so much of my past fears, but of the healing power of the Atonement. I surely know that I did very little to overcome my anxiety. Yes, I practiced self-care and learned techniques to ease my nerves, but the level of healing I’ve experienced doesn’t come from those small things I have done. It comes from learning of the Atonement of Jesus Christ and from constantly seeking a deeper understanding of its application to my life. It comes from doing my best to live the commandments I’ve been given, and from not fleeing God’s presence when I fail. It comes from discovering that I have a Heavenly Father whose love for me is real and can reach beyond any darkness that surrounds me – or the walls I build around myself.

I don’t want to claim a testimony I don’t have, but there are spiritual things that I know to be true. I know that there is a God. I know that He knows us each individually, all of our heartache and suffering and anxiety, and He wants the best for us. I know that by living the principles of the gospel, even half-heartedly, I’ve been given peace beyond any I could imagine in the first twenty years of my life, and I know that the more I cleave unto God, the less power the whirlwinds of life have to alter my course. In the words of Nephi, “I know that he loveth his children; nevertheless, I do not know the meaning of all things.” I don’t know everything. I don’t know why school-aged children with disabilities milder than mine are left to die in cribs in developing countries. I don’t know why people who are trying to follow God get lost and harm other people in His name. I don’t know if every single thing I believe is true. I hope to someday gain a knowledge of those things, but right now, I don’t need to.  What I do know is that I have a Heavenly Father who loves me, and an older brother who lived, suffered, died, and rose to redeem me and give peace to my nervous little heart.

I couldn’t do much of anything without them.