Denial is a powerful thing. I was in denial for almost 25 years that I was very sick. I made choices from a place of denial. My frustration came from that same place. The thought of me not being about to fix myself made me feel out of control. I tried for years to fix myself and when I could not I felt worse than before. I recently made a big change in my life and after I made the decision and all aspects of it had been finalized I began to tell everyone in my life about what I decided. I was nervous because for me this was a life changing and difficult decision but when I told everyone they were relieved. I was surprised to find out that everyone was happy for me and felt I had made the right choice and wished I would have made it earlier in my life. I did not know that they felt the stress that I felt. After a few weeks of coming to terms with all that has happened over the last few months, I realized that being comfortable with yourself is a powerful thing and It’s effects may reach further than you could imagine. I am looking forward to being comfortable with myself from today on and I learned the best gift I can give to myself and everyone else is to be my true self and do what is best for me. I will leave you with this quote “The moment will arrive when you are comfortable with who you are, and what you are– bald or old or fat or poor, successful or struggling- when you don’t feel the need to apologize for anything or to deny anything. To be comfortable in your own skin is the beginning of strength.” ― Charles B. Handy
Tag: Charcot Marie Tooth
When a storm is coming you can always tell it is on its way but in my case, I can’t. My disease does not let me know whether the next day will be good or bad, there is no foreshadowing, no clouds rolling in so there is almost no way to tell what I may feel like tomorrow. Now, I understand this is the case with most people but your baseline may be higher so when you are not 100% you are still able to function pretty well. I would be content with a bad day or two but I end up having a bad week or weeks depending on how severe the bout might be. During these times I am bed/couch ridden with barely enough energy to sit up. I would say it is similar to very bad flu which keeps you in bed for days until it passes. I have tried lots of ways to predict when these bouts occur but the only thing I know for sure is that I will get sicker and I don’t know when or for how long but I will be sicker. It probably seems unusual to people without a disability to understand that I am truly blindsided by my bad days and have no control over this aspect of my life. I am not sick because external factors, I did not push myself too hard or have a rough week because every day I am pushing through and every week is rough. I have a disease that as a whole is difficult to manage with days of not as bad as yesterday mixed in. I know, it could be much worse so I am not complaining about what I have but I just wanted to provide a little insight into why maybe I or someone you know may have an unusual pattern that even they cannot predict. I will leave you with this quote “When we go through unpredictable waters we are always in advantage, because many people cannot swim” ― Jan Jansen Easy Branches
Recently, I started to notice that daily life activities have been draining me of energy at a higher rate than my normal baseline. So, over the last few weeks, I have been observing my daily activities more closely and what I discovered is that depending on the way your particular disease responds to fatigue there seems to be a bit of carry-over. Carry-over fatigue is caused by the previous day or days activities that cause fatigue in the present. I noticed that once fatigue has occurred, the fatigue must be addressed if not that the fatigue will carry-over until exhaustion and as we all know once that level is reached recovery becomes exponential longer. So, what can we do about this? Well, the solution is not that simple. This takes time to learn what causes you to reach fatigue and to understand when you may need to rest. I noticed for me that I always have an indicator that I am tired whether it is an unusual pain, my Charcot Marie Tooth symptoms worsen but most likely there is some sign that your body is giving you that you need to take a break. I have tried this myself, this has helped me to not have as much carry-over fatigue on a daily basis. Chronic illnesses do not have a magic fix but if we can move a step closer to feeling better then we have accomplished something great for that day. I will leave you with this quote “Rest is not idleness, and to lie sometimes on the grass under trees on a summer’s day, listening to the murmur of the water, or watching the clouds float across the sky, is by no means a waste of time.”
― John Lubbock, The Use Of Life
Quote from Goodreads
I learned a new word this weekend for people that struggle with chronic illnesses such as myself. The word is Spoonie or Spoonies. At first, I thought that was a beautifully odd thing to have on your profile but I have friends that love Sporks so it did not seem unusual to me. Then, I became instantly curious about that the word might mean and started looking for all the information I could find about the Spoon Theory. So, a Spoonie is a person living with chronic illness, that identifies with Christine Miserandino’s Spoon Theory. Spoonies are people that live with chronic illness; theoretically measuring personal daily abilities much as one would measure the proper amount of spoons needed for an event or occasion… sometimes having an abundance, other times coming up short. I really like this word and this theory, I think that sometimes it is really hard to explain what it is like to have a chronic illness. I found a youtube video from a while back that explains the spoon theory and how it became a symbol of chronic illnesses. I hope you can share this video or article with anyone in your life that has a chronic illness or family and friends that may need some help understanding your daily life with a chronic illness. I think that is the Internet has become a great tool to express what it is like to live with a chronic illness. I hope you find this story inspiring and maybe you will write the next great story or chapter for chronic illness awareness. I will leave you with this quote “Start by doing what’s necessary; then do what’s possible, and suddenly you are doing the impossible.” -Francis of Assisi
It has been a few months since I started this blog and I have learned a lot about myself and others that have both illnesses. I started this blog as a way to document someone living with CMT, Scoliosis, and Stenosis and the tips I would find along the way but what I discovered was something completely different. I was inspired by the communities that are helping and supporting one another. The people I now follow, read, and learn from all came through me starting this blog. Also, writing a post about a subject made me look at the subject more objectively which has helped me discover causes for issues that have plagued since childhood. This blog has given me a way to express some aspects of these illnesses that I not been able to communicate so clearly. This has allowed people close to me and beyond to understand aspects of living with a chronic illness and what effects it has on my daily life. I have had people that have known my whole life that did not know I was battling a chronic illness which was very surprising to me. I am not concerned with people knowing or not knowing if I am not well but it is a good thing for people to hear Charcot Marie Tooth, and Scoliosis so if they hear it from anyone else they may have some familiarity with the subject or at least know someone that has it. I am truly grateful and greatly appreciate all my social media followers, blogs subscribers, family and friends that have taken the time to read my blog and I hope you will keep reading my posts and continue to follow me on this journey. Thank you so much. I will leave you with this quote “After nourishment, shelter and companionship, stories are the thing we need most in the world.”― Philip Pullman
They say that the journey of a 1,000 miles begins with a single step. The long journey to my CMT diagnosis began with a single misstep when I began third grade and for the first time had to climb a flight of stairs to get to my classroom. A teacher noticed that I was having trouble with the stairs and informed my parents, setting off the search. It would be 25 years between that misstep and my diagnosis.
First, my parents and I met with an orthopedic doctor who was very well versed in neurological diseases. He told us that it was either muscular dystrophy, Charcot-Marie-Tooth or Guillain-Barré syndrome. I spent the following summer of my third-grade year being tested for all types of diseases. I had an MRI, X-rays, a gait analysis, and an EMG. When all the results were in, I was told I had scoliosis (an S-curvature of the spine) and Guillain-Barré syndrome, or GBS.
I began living my life thinking I had Guillain-Barré. I was always a curious child and I read everything I could get my hands on about it. I never felt that my symptoms matched up with GBS but I ignored my feelings of doubt and told myself that maybe my version was different than the typical one.
My life went on this way for the next 25 years. Then I started noticing a dramatic change in my energy levels, my ability to work and my ability to do normal daily activities. I started to have injuries, pains, and problems doing things that I had always been able to do. So, I visited my doctor again and he said I should see a neurologist. I took the same tests that I had taken as a child, but this time the results and the diagnosis were different: Charcot-Marie-Tooth. I was shocked but not surprised if that makes sense because I had never truly believed I had GBS.
After reading about CMT and its symptoms, I was almost sure this was what had plagued me for my entire life. I was upset because I have had so many bad days and so many issues that could have been explained and treated with the right diagnosis. The next step was to find out more information about CMT so I joined the CMTA. I also became Co-Leader of the Chicago North CMTA Branch. This was one of the best decisions I have ever made in my life. The CMTA helped me find the resources that I needed to better understand and support my CMT. Also, the CMTA is funding a research that gets closer every day to finding help for those of us who have it. Although I am no longer part of the CMTA, my time with the organization was life changing and I would recommend it to anyone who is just starting to learn about Charcot Marie Tooth and needs a great resource for help and information.
While I had all of this new information and the best resources from the CMTA, I was still not 100 percent convinced that I had CMT. So I decided, in my role as a CMTA branch leader, to bring in Julie Hedrick of GeneDx to speak at a branch meeting. Like many people, I was concerned about the expense of genetic testing, but Julie and the team at GeneDx helped me through the process of getting genetic testing done with my insurance. After a few months, it was confirmed that I have CMT4C.
According to the CMTA, CMT4C is caused by mutations in SH3TC2 and has a wide variability of severity. This type of CMT involves childhood onset of sensory and motor neuropathy in the lower limbs and high arched or flat feet. Patients often have mild difficulty walking and some may need a wheelchair. Scoliosis is almost always present, usually onset in the first two decades. The onset of neuropathy symptoms range, some beginning in the first decade of life, and others in adulthood. Lower limb and upper limb weakness is common, beginning towards the hands and feet and sometimes extending above the elbows and knees. Hearing loss, vocal cord involvement, and facial paresis have been reported.
I am a firm believer that if something does not feel or seem correct, always question it. For years, I felt that my diagnosis did not fit me but I accepted it, whether because I was misinformed, in denial, or just putting a Band-Aid on the real issues I was having. Don’t do what I did: Get the right diagnosis for yourself and get the help you need to deal with your CMT.