Written by Rod Cisneros
Like many people, I keep a daily journal. I use it to document my everyday thoughts and I even include advice for family members who might come across and read it one day. While this might not seem unusual to most, the journal I keep includes not only humor and love, but also perspective on the common challenges one might face during their life. I include tips specifically to help my children and grandchildren who, like me, are affected by centronuclear myopathy (CNM).
My mother always described me as a “floppy” baby. When I grew older, she noticed that I walked on my toes and physically lagged behind my peers. I was easily tackled or shoved aside when playing sports and was punished for running too slowly during physical education class. Coaches thought I was lazy. My mother knew something was physically wrong with me but had no idea of what it might be. Just before I turned 18, with the military draft looming, doctors concluded that I had Charcot-Marie-Tooth disease, which affects the nerves that connect to the feet, legs, arms, and hands. We were told that it was not a life-threatening condition and I was determined not to let it stop me from living a full life.
It wasn’t until I was in my late 30’s that I was correctly diagnosed with CNM. I learned that the condition is one of a group of very rare and progressive neuromuscular diseases that are caused by genetic mutations. CNM is generally classified by the progressive muscle weakness it causes from birth. It can cause delayed motor skill development, muscle pain, and difficulty walking. No approved treatments are available to patients, so no matter how severe their disease is, their only option is to focus on managing their symptoms with currently available medications and medical equipment. Many patients require almost constant medical care as the condition progresses as well as assistance from ventilators, feeding tubes, and wheelchairs. At 72 years old, I am one of the “lucky” patients with CNM—some die within months of birth.
I am proud to say that I’ve stuck to my commitment to not letting a diagnosis keep me from achieving my goals in life. I graduated from college and had a successful career with a local phone company where I started as an operator and worked my way up to become a network design engineer. My amazing wife and I recently celebrated our 50th wedding anniversary, and we raised five beautiful children together. Our kids have started their own families, but we all live close to each other so I spend a lot of time with my eight grandchildren as well.
While I’ve tried to never let CNM stop me, I can’t deny that it has impacted nearly every aspect of my life along the way. As my condition progressed, with one hand under my chin and the other holding one eye open, it became nearly impossible for me to hold my head up and my eyes open for an entire workday. Eventually, I had to retire 20 years before I intended to and with a monetary penalty. I’ve also had to modify how I do the things I enjoy because of CNM. Life looks different because I have to use a motorized wheelchair full-time. I have modified my diet to include foods that I can still eat independently. My wife and other family members assist me with most everyday tasks now including getting in and out of bed, showering, toilet use, and getting dressed. In more recent years, we have learned that three of our children, as well as two of our grandchildren, have CNM as well.
My goal is not to inspire others to have pity on me because of my diagnosis, but I hope my story helps people understand what CNM is and how urgently people living with the disease need access to treatment options. I have hope that by spreading awareness, my children and grandchildren will have lives filled with hope, happiness, and bright possibilities.
About the Author: Rod Cisneros is a husband, father, and grandfather who lives in Northern California. He has spent most of his life navigating challenges caused by centronuclear myopathy (CNM), a rare neuromuscular disease. He hopes that his work advocating for patients with CNM will positively impact his family and the whole patient community.
