I’m a 49-year-old wife and mother to a 24-year-old son. I was diagnosed with Charcot Marie Tooth disease (pronounced SHAR-KO-MARIE-TOOTH) at the age of five. Although my Father suspected there was an issue before my official diagnosis, the prognosis only became clear after doctors gave me a toxic dose of the drug Macrodantin while in the hospital being treated for a severe kidney infection at age five. 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 then underwent a barrage of tests and only after a muscle biopsy of my right thigh muscle, we were told that CMT was the cause of my neuropathy. Before my severe drug interaction, no one in my family knew they had CMT. CMT is a genetic peripheral neuropathy that affects one in every 2500 people in the world. It is more prominent than Multiple Sclerosis, however, unlike MS most have never heard of it. Before my diagnosis, because my Father had hearing loss in one ear since childhood. Because of this, 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 also had polio as a child, so 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. Once I received a diagnosis, and through genetic studies of the family history, it was determined that my paternal grandfather most likely also had CMT based on his symptoms and physical issues he had experienced throughout his life. We discovered later (through genetic mapping and testing) that four of my Aunts and my Father also had CMT. Beginning at age five and all throughout my life, I underwent years of physical therapy and appointments with numerous specialists in order to learn as much as we could about this disease. At that time, CMT was considered extremely rare. Today, one in 2500 people have CMT (most do not know it).
My family is believed to have Type2A CMT and three of my Aunts were in wheelchairs for many years. My Father and another of my Aunts were as well but have recently passed on. As of today, three of my cousins and I have been diagnosed with CMT. That means three generations of Maughons have been affected thus far. As with any hereditary disease, we are unsure exactly how the legacy of CMT will show in future generations of Maughon descendants.
The progression of CMT can affect 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 cousins. However, we hope that with prayer and funding for research that we can stop the legacy of CMT in the Maughon 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. This is why I’m a #wobblygirl and I embrace it.
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 landed a new job 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. I have struggled ever since.
In the years which have passed, I have gained all of my weight back. I am having trouble walking, have blown out my knee after several recent falls (that comes with the CMT territory) and overall am not even close to the person I want to be. I am trying to learn how to cope with stress and my daily challenges. For me, I have found that the best therapy and medicine for me has always been spending time with friends and just sharing about my challenges with those I love the most. I am launching this podcast in hope that in some small way, I can help someone else who may also be struggling to know that they are not alone. Sometimes when life is hard, all you need to hear is a story from someone who has overcome something and been able to rise above their circumstances- to lift your spirits and help you to feel better about yourself. For that reason, I hope that you will come along for the ride with me… in This Wobbly Life!