Dealing with My Son’s CMT

My 14-year-old son has Charcot-Marie-Tooth disease, but you would never know it. He is an active, adventurous, and goofy teenager who does not let CMT stop him from doing anything.

When he was learning to walk, we noticed some minor issues with his gait. Since I have CMT1a, we decided to take him to the Muscular Dystrophy Association Clinic at Children’s National Hospital in Washington, D.C. We saw a neurologist, physical therapist, and nutritionist while there. The team did several assessments that indictated he has CMT, so they decided we should do a blood test to confirm the theory. A few weeks later, the blood tests confirmed that he has CMT1a. The doctor considered it a mild case at that time. They recommended physical therapy and to see them every six months to a year. Now we see the medical team at Johns Hopkins CMT Center for Excellence in Baltimore once a year.

I was surprised at how this news affected me. I knew there was a good chance my son would inherit CMT from me, but I was unprepared for the feelings it brought up for me. I was upset and angry that I passed this on to my “perfect” son. I was afraid of all the what-ifs. What if his CMT progressed quickly and he needed a wheelchair? What if he needed surgery after surgery after surgery? What if he could not participate in sports or play at the playground? What if no one wanted to be his friend because he has a disability? It was harder than I thought to accept the diagnosis.

Over the years, I have learned that he is resilient and does not let CMT stop him from doing anything. This sometimes causes me to worry, but I know I have to let my son do these things. The doctors suggested that tae kwon do would be beneficial and help with balance and strengthening his muscles, so he joined a class. He became a brown belt before things got too difficult and painful. He was rolling his ankles more and more, which became a safety concern. Now, he is swimming — he loves it! I try to get him to the pool a few times a week. It is also beneficial for me to be in the pool, so we often swim together.

I try to teach him that CMT should not stop him, and that he should try everything. We hike and travel as much as we can. He loves zip lining and doing those adventure courses that set my nerves on edge. I try not to stop him, even if I can’t do them. In fact, he just climbed all 219 steps of the St. Augustine Lighthouse in Florida. I did not. I think is important for my son to do all of these things. I know being active will help him keep the muscle strength he has, and maybe slow the progression.

I hope that they can find a cure before his symptoms progress and get worse. I hope that he continues not to let CMT stop him. I hope that he knows how proud I am of him and how much he is loved.

***

Note: Charcot-Marie-Tooth News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Charcot-Marie-Tooth News or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.