I’m a 50-year-old wife and mother to a 25-year-old son. I was diagnosed with Charcot Marie Tooth disease (pronounced SHAR-KO-MARIE-TOOTH) at the age of six. Although my parents had suspected there was an issue before my official diagnosis, my prognosis only became clear after doctors unknowingly gave me a toxic dose of the drug Macrodantin when I was admitted to the hospital being treated for severe kidney infection as a child. You see before my drug interaction, no one in my family knew they had CMT. Our issues never had a name. I was the first in my family to be diagnosed. That started the discovery process… Where did this come from? What is it? What now?
When I was a baby, my parents noticed I had some issues with mobility, walking, standing without holding on to something, why my feet were so high arched and my ankles so weak. Around the age of three or four, they began taking me to doctors and neurologists trying to figure out what might be causing my overall balance and muscle issues. Unfortunately, during this same time, I got a kidney infection and it was a bad combination that hit me like a train.
After receiving an IV dosage of this antibiotic, my limbs shut down and I was unable to walk or use my arms and hands for weeks. I was hospitalized for over two months as the doctors tried to figure out what I had and put a name to it. During this time, I underwent a barrage of tests to figure out what happened. I had EEG’s, a spinal tap, and ultimately a muscle biopsy of my right thigh muscle. We finally had an answer… I was told that I have Charcot Marie Tooth Disease. It took me several years of therapy to get back to where I had been before the drug reaction. You see Macrodantin is the number one drug people with CMT should never be given. I don’t blame them of course, because they did not know!
We now know that CMT is a genetic peripheral neuropathy that affects one in every 2500 people in the world. There are currently over 3 million people who have it. Although very rare when I was diagnosed, it is now more prominent than Multiple Sclerosis. However, unlike MS most have never heard of it. In my own family and genetic tracing, we have now discovered there had been generations of people who had experienced various issues in my family but no one realized there was a name for it.
My grandfather could not walk past age 48, his mother and her brothers also had severe issues and on and on. My Father had hearing loss in one ear since childhood and he had always thought his balance issues were due to the effects of his hearing loss on his equilibrium. My Aunt (most severely affected at that time) had polio as a child and the family believed that was the cause of her issues with walking, balance, and overall weakness in her arms and legs from a young age. Throughout the years, we have discovered that five of six Aunts are known to have CMT and one was a carrier as she, unfortunately, passed it to her daughter and granddaughter. So far, six generations (or more) of our family have been impacted in some way. As with any hereditary disease, we are unsure exactly how the legacy of CMT will show in future generations, which is why I have done all I could throughout my life to learn as much as I possibly can about this disease and to share as much about it as I could with anyone who would listen. It has become my mission.
My family is believed to have Type2A CMT and most of my family were in wheelchairs by the time they were 55 years old. In my generation, four of my cousins and I have now been diagnosed with CMT.
The progression of CMT can impact different people at different rates and severity, even within the same family. We don’t know for sure what the future holds for me or my 1st & 2nd cousins yet. Our stories are still being written and every day is a new challenge. However, it is our hope that with support and funding for research we can stop the legacy of CMT in our family for future generations (and others like us) for good!
It is for this reason that we will do whatever we can to raise money to fund desperately needed research and spread awareness about CMT and it’s why I’ve embraced that I’m a #wobblygirl and I put myself out there that maybe, just maybe it will help to spread awareness, raise critical funds, help us find a treatment and ultimately a cure. If nothing else perhaps I can prevent another family member from hearing the news that they have CMT.
Why Follow Me? I’ve had my ups and downs. In 2014, I was in the best shape of my life. I had lost over 60 pounds, I had just received a new career opportunity that I was really excited about. I had a lot of friends and was a very active person. Then I lost my Dad… It has happened to other people, I know. But for me, my Dad was my rock. He was the person I leaned on whenever I needed a positive word or lifting up, especially regarding living with CMT. He was my person.
Since then, if I am being honest, I have really struggled. In the years which have passed, I have gained all of my weight back. I am now having trouble walking, can no longer drive, have had a lot of digestive issues, and even my vocal cords impacted by CMT. Add all the stress of Covid for people like me over the past year and it has been a lot! Throughout it all, I am trying to learn how to cope with the stress and my daily challenges and to stay as positive as possible. After all, I have SO MUCH to be thankful for too! For me, I’ve found that the best therapy and medicine have always been spending time with friends and just sharing time with those I love the most. I hope that opening up about life’s challenges and how I and others have learned to deal with the issues that life throws at this may help someone else out there.
I have this website, my blog, and am now launching a new podcast called This Wobbly Life. Sometimes when life is hard, all you need to hear is a story from someone who has also had challenges and has overcome them, in order to inspire you to stick it out and keep at it! HEaring that some people have been able to rise above their circumstances and have done some cool things despite them is like medicine for your mind. My hope is that each and every episode will lift your spirits and help you to feel better about yourself and the world around you. I would love for you to check it out! I invite you to come along with me for the ride as I find a little balance in This Wobbly Life!