Charcot-Marie-Tooth Awareness: The Day I was Diagnosed

Welcome back once again to my little story of life with CMT. Today's post is about the turning point in my life, for I am going to talk about the day I was diagnosed with CMT. This is a slightly longer post than the others so far but now we are getting into things that are more emotional and physical.

In my last post I talked about how my parents always established us with a new doctor with each new move we made. Nothing changed when we moved to Massachusetts when I was around 10 and a half for there was yet another new doctor to see. When my Mom took me to this new doctor things didn't exactly go like they had before with all the other doctors. This doctor didn't brush off my Mom's concerns in regards to how I was different but listened to her, and had a suspicion what was going on, though he didn't tell her what that might be. Our new doctor didn't just have book knowledge of CMT, but he had first hand experience, via his wife's family.

Our new family doctor referred to me to another doctor, that turned out to be a neurologist, who then ordered an EMG. For those who have never had the pleasure of experiencing this test, or for those who are uncertain as to what this lovely test, it is basically a test that is where small needles that are inserted near nerves and small jolts of electricity is sent through the needles and a machine records the nerve reaction. I have talked to other people who has CMT and it seems as if an EMG is either painless or the most painful thing they have ever had done. Personally I would rather give birth to a 12 pound baby without any medications than ever go through another EMG in my life, for it was just that painful for me.

So there I was, around 11 years old and in the 6th grade, waiting with my Mom for my EMG appointment with no clue what so ever about what about to happen. I was a little nervous and more than a little scared about what was going to happen once the test started. The technicians called for us, so my Mom and I followed them into this room with a machine, a table and a chair. I remember how excited these two technicians were for they had a brand spanking new EMG machine and that I was going to be the very first person to be tested on this machine, which was suppose to be more accurate than the older machine.

As the test began, I did my best to ride out the whole thing because I didn't want to seem like a baby (I almost want to say that I had an argument with my parents recently about how I was no longer a baby and shouldn't be treated like it) and cry while having this test done. However, as the test progressed, the tears began to fall for this test was very painful and then shortly after that, I started asking then begging for my Mom to make them stop. Thinking back to that time now as an adult and a Mom, my Mom showed a great deal of strength. She showed that strength by allowing the test to continue even though I was begging for her to make it stop, all in hopes that we would finally have answer.

After what seemed like hours of torture, that first test was complete yet the technicians were so completely confused at the results for test. The test results were so far below what they were expecting from this brand spanking new machine which was suppose to give clearer results which in the long end were suppose to help prevent repeating of the test. After talking between the two technicians, they figured that the new machine was not calibrated correctly, so they decided that they needed to repeat the test but on the old machine this time. I really didn't want to go through another torture test but my Mom agreed to another test, after all of their reasoning and logic sounded reasonable to the both of us.

Now my Mom and I disagree on what happened next in regards to the number of tests performed for she has always looked at each and every time a needle was inserted into my leg as one test, but I remember it was a series of these needle pricks that constituted one full test. I remember two full tests being completed on me. The first test was done on the brand spanking new machine, with the second test on the old machine and I want to say that I remember a third test as being done on the old machine as well. I don’t remember the reasoning why a third test was being done since the first and second test had the same results but I am pretty sure a third test was being started. The technicians had been about a third of the way through in that third test when I guess I had been making so much noise, between crying and begging my Mom to make them stop, that a doctor walked in to see what was going on exactly.

The doctor who walked into the room turned out to be a neurologist, who took one look at the test results from the prior tests and knew right away what he was looking at. Quietly but efficiently he put those technicians in their place for all they put me through with the pointless extra tests, because the results were pretty obvious to those who knew more about neurological problems than just a couple of technicians. I don't remember him being hateful or disrespectful (then again I had just been through a couple torture tests and I was only 11 years old) but mostly it seemed as if he just wanted them to understand that just because they are use to seeing a certain results, didn't mean that there was something wrong with the machines. This neurologist (who by the way ended up in the long run as my neurologist during my childhood) turned to my Mom and told her that I had a form of muscular dystrophy called Charcot-Marie-Tooth.

Now it was either the neurologist then that day or it a doctor within a short time after I was diagnosed that gave my Mom the pamphlet on CMT and basic information as to what it was exactly. It described the most common symptoms (high arches, loss of feeling in the limbs, and something other things as well), along with how a person gets CMT and a few other facts that I don't remember now after so many years. Even with the limited information that was in the pamphlet, it was still enough information to figure out which one of my parents had CMT, and we figured out from whom they got their CMT as well.

I remember one day sitting with my parents talking about the CMT and which one of them had it so that the one who did could be tested to make sure. They figured it out that it had to be my Dad who had the gene for CMT since out of the two of them, he was the one that walked heavy and because of the little trick that he did that no one seemed to understand how he could do it. That little trick was that he was able to hold a flame of a lighter to the bottom of his foot for quite some time. We all thought it was odd that he could do this but never really thought about it, but as a kid I thought it was a pretty neat trick that I wanted to repeat but was never allowed to do so for obvious reasons of course. Also my Dad never thought about having to put shoes on his feet when it was snowing outside and he could stay outside for some time barefoot in the snow. Between those things we guessed it had to be my Dad who had CMT who tested positive for CMT when he was tested shortly after I was diagnosed.

From there we talked about how it must have been his Mom that had CMT even though she passed away before I was diagnosed so she never knew the truth. As a child my Grandmother was diagnosed with Polio who never had the fever and other symptoms of Polio as a child except for the muscle weakness. At the time that my Grandma was diagnosed with Polio, Polio was going around and CMT was so unheard of that I would be surprised if anyone but the youngest and most dedicated neurologists would have heard of it. For quite a while it seems as if the family members that were in the possible genetic line of CMT were of split mind for some couldn't see how it was possible while to others it made complete sense. I only wish that my Grandma knew what she really had though I am not sure if it would have made a difference with her medical treatments.

Today we have a bit better idea of the CMT family tree, so to speak, within my family.

  1. There is my Great-Grandpa, not sure about any of his siblings or his parents
  2. There is my Grandma and a couple of her siblings though I am not entirely sure who. I have only recently found out that some of them have CMT.
  3. There is my Dad and possibly an Uncle who had CMT along with some of their cousins or second cousins.
  4. In my generation there is myself (I was the first in the whole family to be diagnosed), a sibling, possibly a cousin, and some extended cousins.
  5. Then there is my niece who has been diagnosed and showing signs, and my son who has the gene but shows no signs of it progressing.

Though CMT was not known before I was diagnosed, now that it is known about it will make it easier for future generations to be able to make informed decisions for themselves and for their future children. Those informed decisions are what they are willing to put themselves through in order to get a definitive diagnoses, they will know ahead of time about some of the treatments that are out there for themselves, and they will be able to make informed decisions about whether they want to have children or not. Each person must make their own personal decisions in regards to their own health care, for the health care of their children and whether or not to even have children. Personally I choose to have a child but that is my choice. Each person must make their own choice and their choice is right for them completely. There is no right or wrong when having to make these decisions.

In my second post I mentioned that when I was diagnosed I was actually more relieved than actually shocked at the diagnoses. It was a relief because here was a reason as to why I was the way I was because I knew I was different from everyone else. To know the reason behind why I couldn't run, and couldn't roller skate; to know that I was it wasn't me being stubborn, I wasn't lazy and to know that I could do nothing to change what already was, was a deep and blessed relief. It was the answers to all those questions my parents and I had, which actually also helped to deal with all the teasing that happened when I couldn't do something. My parents helped even more so with the teasing, not by searching out those 'bullies' but they showed me how all those who were teasing me didn't understand what they were talking about and what was going on.

I am not sure why I didn't experience the shock, maybe it was because I was only 11 years or maybe because I understood that I wasn't going to get better. When I say that it never happened, I mean I just apparently skipped over the whole shocked phase of the whole process for I don't remember ever feeling shock about being diagnosed with Charcot-Marie-Tooth even to this very day. I have gone through the other stages, for that I have no doubt, but completely skipped over shock and I know and understand that everyone is different so what I have gone through is not going to be the same for everyone else, and that is okay.

I hope everyone understands how much I appreciate all who keep coming back to read more about my story. The next post will be about my Middle and High School years for each of those taught me a pretty huge lesson that I never forgot and use when I need to.