My Life with CMT

I was born with CMT (Charcot-Marie-Tooth Disease).  In order to fully appreciate my story, first you need to know a little bit about the disease.   First, no, it has nothing to do with my teeth.  Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth are the 3 physicians that discovered CMT.   It is commonly categorized as a form of Muscular Dystrophy, although the defects of CMT are not in the actual muscles, but in the peripheral (legs, feet, arms, hands) nerves, so technically, it is not MD.

Now, I have been known to do things to the extreme when I do them.  Apparently I started this trend from the day I was born.   Most of the information is from my mother, as all of the things that happened early on I don’t actually remember.

Here’s my story.

In the Beginning

On November 14th, 1986 my mom gave birth to a 10 lb 8oz  baby girl.  I was not a very active child right off the bat, but with a starting weight like that, it was thought that maybe I was just a lazy child.  I kind of wiggled my arms as I fussed, but that was the extent of my movement, and over the first few weeks of my life, that movement stopped too.  My mom had been working as a nurse in the Obstetrics unit at hospitals for quite some time, so she knew a thing or two about babies and how they are supposed to develop.  When I was 2 months old and still couldn’t lift my head or move, she knew something had to be wrong.

At 4 months they took me to a doctor who said I needed some forced tummy time (where you put the baby on the floor face down to encourage muscle strengthening): 15 minute sessions 4 times a day.  My mom, doing what she was told, would stick me on the floor for tummy time and just leave me there screaming my heart out.  She’d go and take a shower or preoccupy herself in some way in another room.  No mom likes to feel like she is torturing her child.  Of course, I gained nothing from the tummy time torture (except maybe my singing lungs from the screaming and crying).  I laid there like a slug (I am lovingly called the slug baby when my story is told by my parents) and there was nothing I could do.

The doctor then decided that I should have a muscle biopsy.  I had one done on my calf (and I will forever have the scar to prove it) and the results were in.  World’s worst pediatrician, who was so bad my mom repressed his name from her memory, walked in and said:

“Your daughter has Spinal Muscular Atrophy and will be dead by the time she’s 2”

And he walked out.

Seriously… talk about horrific bedside manner.

So there my parents sat looking at their motionless baby, who they had a lot of trouble conceiving in the first place, with the news that I had a disease that would kill me in a year and a half (for more information on SMA, click here).

In an effort to do what they could to help me I ended up in physical therapy 3 times a week.  4 times every day my parents did passive (meaning they moved my body for me, as I couldn’t) exercises with me at home.  When I had a muscle test done, each muscle was ranked by levels poor (basically useless), trace (minimal function), and a few levels leading up to good.  Every muscle except one or two tested poor. My body could do nothing.

At 6 months of age, after our experience with the “Neuro from hell” (as my mom calls the doctor that diagnosed me with the SMA and made his lovely announcement to us), we went to Children’s to see if they could be any help.  In the meantime I had learned to sit up with a bunch of pillows wedged around me and my grandfather build me a little corner chair that would support me so I could at least sit, even if it wasn’t under my own support.  The pillow thing is significant because SMA kids do not sit, even supported.

At 9 months old I was transferred into a standing A-frame.  The A-frame is a device that I got strapped into, but instead of being supported to sit, I was being supported in a standing position.  While there was no way I could support the weight on my own, it was important that my weak little legs at least got a little experience supporting the weight of a body and being in a standing position.   The therapy and visiting doctors routine continued as we tried to figure out what was wrong with me.

1 Year!

At one year of age I had a repeat muscle biopsy.  This time it was on my quad and I am stuck with the scar to prove it.  This biopsy ended up being very inconclusive.  It turned out that it was clearly not SMA as the denervation that should have presented itself did not.

Things had gotten more interesting at physical therapy.  I became known as the “queen of substitution.”  My therapist, Judy, would just sit and watch me as I used muscle groups that kind of worked to make up for the ones that didn’t work at all.  “How does she use/do that?” was a question frequently asked during me therapy sessions.  To this day I am still the “Queen of Substitution.”  Ask anyone that has lived with me or been exposed to me for long periods of time. 🙂

I was then taken to get an EMG (Electromyograph) which measures the speed of nerve conduction. My EMG came back abnormal.  Normal results are 70mps; my results were 11mps.  SMA has normal nerve conductions.   Clearly, I did not have SMA.  While we could take a minute and celebrate the fact I didn’t have a disease that was supposed to kill me within the year, we still had bigger fish to fry:  If not SMA, then what the heck did I have?!

 

At around 16 months old I would regularly go in and gets tubes of blood taken for genetics and metabolic disorders.  Mom said I would get arterial sticks, which is when you draw blood from the arteries rather than the veins like normal.  Supposedly they’re painful.  Lots of crying, I’m sure.  Maybe all of this torture explains why I have such a high pain tolerance now.

Meanwhile, as the doctors remain trying to figure out what slug child has, I continue to improve slightly.  I was finally starting to be able to sit (granted, I had to be propped up by an abundance of pillows, but that’d better than nothing) and went shopping frequently at a place called Lekotek.  This place (which still exists..I just googled) specialized in modifying toys for children with special needs, so my parents were able to use the “toy lending library” to get me toys that were made to react to even the slightest touch.  This meant that despite the fact I could hardly move, I could still play.

Around 18 months my dad went to a sports medicine pediotrist to get fitted for inserts for his screwy looking feet (Note: while these funky feet ran in the family, no one thought it actually meant anything more serious than acquiring the family body shape or nose) and this simple trip for some inserts ended up being the answer to my family’s prayers.  He took one look at my dads feet and asked “are there any neuromuscular problems in your family?” to which he started talking about how he has this daughter who can’t move and no one knows whats the matter with her.

Go get tested for CMT”

Wisest words ever spoken to our family.  If my dad hadn’t gone to see the sports medicine man for shoe inserts, who knows how long it could have been before we got any answers? My dad was then sent to get an EMG like I was.  Guess what?!  Ours matched!  Thanks to my dad’s high arches and hammer toes we had a diagnosis for him, which meant we had one for me as well.  CMT: Charcot Marie Tooth disease.

We went back to Children’s with the EMG results where our doctor (the man who had misdiagnosed me earlier) asked my dad to take off his shoes.  Once he saw those feet he confirmed the diagnosis and immeadiately apologized for my misdiagnosis and mentioned how this was the worst case of CMT he has ever seen in an infant.

Here’s the scoop: CMT is a peripheral nerve disorder (right, it’s actually my nerves that are the problem, not the muscles) that has an onset around the same time as puberty.  Children generally show no signs of CMT and then when puberty hits, things like clumsiness (perhaps because their walking patterns are changing) and weakness start to occur, and it is a slow progression downward from that point on.  The disease varies from case to case.  You could be wheelchair bound, end up in braces, or be “normal” with just a more noticeable amount of weakness as you age.  In other words: I was doing it all wrong.

 

I had since been enrolled in physical therapy several days a week, where more crying and attempts at moving occurred regularly.  Over time, I started to get a bit stronger, and I learned quickly when it came to using the muscle groups that worked a little bit to compensate for the ones that didn’t work at all.  My mom said there were times where I’d be laying on the floor and my therapist, Judy, would tell my mom to hold a toy in front of me, and while I’d work to get to it she would watch fascinated by how I was making my body move, knowing the appropriate groups didn’t work.  I became known as the “queen of substitution” because I was able to figure out how to get my body to do what I want even if the muscles I technically needed couldn’t.  People would have to hold my shoulders down to make me try to work my triceps (which still have zero muscle function) because my shoulders were my compensation.  To this day I catch myself all the time tensing up my shoulders for no good reason, simply because I have grown used to using them for everything.  It is a bad thing now because I always have tension (more like lead pipes) running through my shoulders and up my neck because of it.

Throughout the years I managed to figure things out.  I finally started walking at age 3, but that was with the aid of full leg braces and a mini old lady walker to help me  (at some point I’ll find the photo of me that proves it).  We got hooked in with the Muscular Dystrophy Association (MDA) and made visits to see those doctors bi-annually where they offered us helpful suggestions, support, and monitored my progress.  I had the routine muscle tests mastered by the time I was 4.  Doctors didn’t have any idea why I was starting to improve when CMT was a degenerative disease, so I was routinely the science experiment that visited the MDA office.  The doctors would bring in groups of med students and residents, give the cliffs notes version of my story and then leave them to ask questions and be confused.  I learned to enjoy that part of the visit very much (diva much?).

As time went by, my braces got shorter, and I somehow managed to get by, conquering gym classes by participating when I could (my hand braces could send a volleyball straight to the other side of the gym and I actually had some mad jump rope skills for a 5th grader with braces on her legs), and going through physical and occupational therapy for the first 12 years of my life.  I would attend MDA camp for several summers, where I ended up being one of the more able-bodied campers there (not a situation I was used to at all).  One year, my sister Deanna (who also has CMT but you’d never know) came with me for the experience.  One summer, I lost one of my leg braces, so when I went to see Dr Irwin Siegel (the man who had been on my case at the MDA clinic for as long as I can remember) I asked him if I could just give life a try without my braces for a little while.  I had never known life without braces, and being almost a teenager by that point I craved feeling normal for a change.  Now, don’t get me wrong, I have spent my life blessed with amazing friends who have never really made me feel like an outcast.  Friends were more than happy to help me out when needed, and treated me like I had no disability whatsoever.  What the good Lord didn’t give me in physical strength he certainly blessed me with in personality and with the gift of knowing wonderful people who have always accepted me as I was (and still am).  Anyway Dr. S agreed under the condition that I would report back to him in detail how I managed without them.  Challenge: Accepted!

I am proud to say that in those 6 months without braces I was able to do stairs more comfortably, move more freely, and I ran (well ran under my standards, as I don’t literally run) my first mile.  After this report I was allowed to continue life free of braces and embrace Jr High feeling normal.

 

In an effort to not bore you to death, lets just touch on some highlights from that point on:

– I started playing mallet percussion in 5th grade because we wanted to find an instrument that I didn’t need my fingers to use.  I went into jr high with that, and then learned how to play the rest of the percussion section, including drum set, and was in band for 7 years.

-In jr high I also auditioned for the musicals, and started getting decent parts right away.  I never gave an opportunity to sing a second thought.  Singing was simply what I did, I knew I was good at it and I felt good doing it.  Thus begins the real performing obsession.

-I took dance classes all though college and enjoyed every second.  My weight fluctuated a bit (losing quite a bit and then gaining it back..a battle that I finally finished in November 2012), but I was without a doubt in the best shape of my life at Carthage.  I worked hard and pushed myself physically, and always had the support of friends, family and amazing mentors throughout the entire process.

 

There are many other little details I could tell you, but if you want to know, just ask.  Bottom line is this:  I have somehow (by the grace of God, no doubt) managed to take this disease that had me completely disabled as a baby, promising only to get worse, and reversed it.  I manage to get stronger as time goes by.  People who once thought I’d be stuck in a wheelchair my whole life now get told that my degree is in musical theater and I sing and dance on stage.  Some days are definitely more of a challenge than others, but I have the goal of continuing this trend.  I am blessed enough to be marrying a man who has told me time and again that even if the worst happens, he’ll be by my side, but I don’t want anything like that to happen, so I plan on keeping myself fit, healthy and happy.  I am blessed in so many ways, and I hope that my overcoming what seemed impossible inspires you to know that you can too.  I’m not saying it’s easy.  It takes work, and lots of it.  It takes “elephant tears” and falling down (which I did a lot as a kid and have the scars on my knees to prove it), and picking yourself right back up again.  It takes time, effort, and strength, but it is possible.

 

I’ll leave you with a quote from a song (from the musical Wicked…surprise, surprise..) that touched me so deeply the first time I heard it because I felt that I related to Elphaba’s lyrics and have taken this song to be my philosophy:

I’m through accepting limits ’cause someone says they’re so

Some things I cannot change, but ’til I try I’ll never know..

I think I’ll try defying gravity

and YOU CAN’T PULL ME DOWN

25 thoughts on “My Life with CMT

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  9. Victoria Smith says:

    That is so interesting. Can u do a page on your website on how you made it because I would like to make a website.

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  11. Lina says:

    We (CMTers) are all so different, and yet we are so alike. I was diagnosed at 6 years old and I think as a kid you just have to get on with it and adapt. I didn’t really realise just how affected I was until I moved in with my first boyfriend (now husband) and there was no way I could “keep up” with him in just daily activity, I had never noticed all the rest breaks I take between things when I lived on my own.
    Use it or lose it is my slogan… and it seems like you do a great job of just that.

    Lots of Love

    • divaandthedivine says:

      I recently joined a handful of CMT groups on Facebook, and I had the same realization of we are so different but so alike. Ra kind of crazy how differently CMT presents itself in different people. I finding the groups made me feel like so many of the little things I struggle with are 100% legit and not just me being a baby about it. Lol

      My husband (we’ve been married just over a year) is still learning and having to train himself that in general I need more rest and to move a bit slower than he does.

      Thanks for reading and for your thoughts 🙂

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  14. Angie says:

    I have CMT also. Your story is inspiring. I also love that song from wicked and it’s message. I actually got a wicked tattoo with defy gravity on my back!

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  16. Deb Iglesias says:

    What an inspiration you are to SO many people! ⭐️⭐️⭐️ God has truly Blessed you, and will continue to bless everything you put your hand to! Keep up the good work…for you are here “for such a time as this.”

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