The first memory I have of having difficulty getting up off the ground is from elementary school. I don’t remember the exact age but I was between the ages of 7-9. I had a part in a Christian school play doing a little cheer, and we had to go from being down on 1 knee to jumping up real fast cheering. Everyone else was able to do this with no issues, but me? I struggled to get up as fast as everyone else. I had to practice and practice and finally was able to do it decently, but it never looked as smooth as what the rest of the “cheerleaders” could do.
In high school, I remember the ONE time my main high school bully was kind to me. We had to sit on the floor for some reason in biology class and when it came time to stand up, I tried to get over to a desk to pull myself up, and he actually offered a hand to help me up. Although that doesn’t make up for all of the horrible things he said to me, it has always stuck in my mind for some reason.
Later in life, I have always just laughed and made jokes about the fact that I have trouble getting up off the ground and blamed it on “bad knees” or just being overweight as my ability to get up has become harder and harder. It would take me 36 years to finally figure out WHY it has always been so hard for me, but the truth has been there hiding in plain sight for as long as I can remember.
I found out recently that I have inherited CMT or Charcot-Marie-Tooth disease, and NO, it has nothing to do with your teeth. It was named after 3 French doctors who discovered the disease. It is also known by 2 other names, peroneal muscular atrophy and hereditary motor and sensory neuropathy. The official definition is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs (peripheral nerves). Click here for more information.
It was a relief to discover a reason behind so many issues I have had all my life, including the difficulty in getting off the ground, but it’s also sad to know that while things can be done to help the progression of the disease, there is no cure for it altogether. You may wonder what issues I have struggled with that are attributable to CMT and how I finally was able to find out. Well, I will try to break it down for you.
- Numbness and tingling in my hands and fingers, a.k.a. carpal tunnel symptoms. THIS is the issue that actually lead to me finally getting my diagnosis. For almost a decade, I have struggled with my hands going numb randomly while doing routine activities and while sleeping. The first time I mentioned it to a doctor years ago, he told me it was carpal tunnel, and that was that. Nothing was done about it. Years later, after using a brace to sleep with on my right hand, which has always been my worst, and my hand STILL waking me up at night, I decided to bring it up again to my doctor now. That lead to me getting an EMG of my upper extremities, which showed I had both motor and sensory slowing, common for those with diabetes, but I don’t have diabetes. This lead to me seeing a neurologist where he noted loss of sensation in my hands AND feet, and after I told him of my family history of CMT, a genetic blood test was ordered. Over 1 month later, I got my results. I HAVE inherited it.
- Numbness and tingling in feet. I have had numbness in my feet and toes for as long as I can remember. I have honestly learned to live with it because it never bothered me as much as my hands did. I admit to not really saying anything to doctors about it because of stigma due to that being considered a “diabetic” sign. I know that doesn’t make sense as my blood work always has shown that I am not even prediabetic, but nevertheless…. This numbness is also in random spots all around my legs and sometimes in my hips.
- Hammer toes. All of my little digits of my feet are hammer toes. I am not sure when they first became this way, but it’s a very classic sign of CMT. Another classic sign is high arches, which I do NOT have and is the main reason why I always assumed I didn’t inherit the disease, as my Mom mistakenly thought you had to have high arches. This is a myth.
- Tremors. I get hand tremors sometimes, especially when I am trying to fine motor skill activities, such as picking something small up. I was told a couple of years ago that this was just an essential tremor and to take vitamin B12. Well, turns out tremors are apart of CMT.
- Hand weakness and dropping things occasionally.
- Balance issues. My balance has never been perfect, and a lot of people don’t have excellent balance, but in the past few years, my balance has started to deteriorate badly. When standing still, I feel myself rocking back and forth and feel like I need to hold onto something. When walking, I feel like I am on a boat on the sea, and the waves are most certainly not calm. I actually brought this issue up a few years ago when it started to worsen at the same time as I had breathing issues, and it was never taken seriously.
- Breathing problems. (This one is NOT confirmed for sure yet, but some people with CMT can have breathing problems due to nerve issues with their phrenic nerve or nerves.) These nerves are around your lung and if they have issues or become paralyzed, your lungs can look perfectly fine, but you aren’t able to breathe well. I started having shortness of breath with just walking across the room around 3-4 years ago at the same time as my balance started getting worse. I still have to see a specialist to talk about this and get this confirmed, but a lot of people with CMT have issues like this that match my symptoms exactly.
- Pain walking barefoot. I have always hated walking barefoot because it feels like I am walking on rocks. I ALWAYS have to wear shoes when I am walking. My Mom is actually the opposite as it makes her feel more stable. Turns out both are common.
- Foot drop, or not picking your foot up all the way when you walk. I tend to trip sometimes if I am not careful because I don’t pick my feet up enough and let them drag.
- Frequent tripping or falling.
- Taking a longer time to recover after activity. I have always wondered why even when I was the healthiest I have ever been it seemed like I stayed sore and hurting for so long after activity. I can do what seems like nothing to most people and be hurting for days afterward.
- Choking on water and/or saliva at times. (Not confirmed but related to CMT). My Mom does this too.
- Having a harder time creating muscles. I never realized how nerve function can affect your muscles so much, but it turns out when your nerves atrophy, your muscles can’t work as well as a normal person. This also can make it harder to lose weight….ugh!
- Difficulty holding a pen or pencil. This is my newest discovery. I type all of the time without much difficulty. My hands can get tired if I type too much and I have some numbness every once in a while, but overall, not too bad. If I pick up a pen to write, I automatically feel aching and cramping in my fingers and hand though. I asked in a CMT group I am in if anyone else dealt with this, and it turns out, they all do.
- Spasms. This is not something I deal with ALL of the time, but occasionally, I will feel a sensation under my skin in random spots where the nerves feel as if they are jumping. I also sometimes feel as if water is running down my leg or something is crawling on me when there is nothing there.
- Nerve pain. This goes along with the numbness and tingling really. Just random aching pain in my hands and feet.
- Last but not least and already mentioned at the beginning of this post…difficulty getting up off the ground. Since the nerves affect your muscles so much, it leads to weakness in the parts of your body that you use to help yourself up, meaning people with CMT tend not to be as strong as others in that regard. When you add in issues with balance, it makes it even harder.
That’s all of my symptoms, at least that I can think of right now and have found to be related to CMT. If I discover anything more, I may add to this. As you can see, this disease is no picnic. However, imagine having a lot of these issues for a long time and just thinking you were odd and having them be blamed on other things. At least I KNOW now.
I admit to going through different emotions in regard to finding out…being relieved that I know, sad that I will never be able to do some things without difficulty no matter what I do, worried about my ability to do things I love in the future, frustration that I didn’t know sooner, and determination to find out what steps to take to help myself the best I can. I have learned so much these past few months that I didn’t know before, even though this disease runs in my family. I hope that my new knowledge can help those in my family to possibly find out sooner if they have inherited this too so that they can take steps sooner than I did. If someone out there thinks my symptoms sound familiar but they don’t have the family history, I would ask your doctor because while it’s mainly a hereditary disease, there have been a few people with a gene mutation that have caused this disease with NO family history. It never hurts to ask.
If you read all of this, thanks for taking the time to do so. I know this was a long post. I appreciate you wanting to learn more about what I have been going there.