Updated: Oct 18, 2021
I was born in 1976 and my parents always knew some things were different, but my physical anomalies were always blamed on a birth deformity in my feet. It wasn’t until I was around 13 years old that my allergist said there was something more than just asthma going on with me and further testing needed to be done. I had the full range of medical testing done and was told that I had an unknown form of muscular dystrophy but to just ignore it and live my life. For years, that is exactly what I did. There were a couple of times that I went to MDA clinics to see if there were any medical updates that I needed to know about and was told that I probably had Limb Girdle Muscular Dystrophy (LGMD) but since there was no treatment, it wasn’t worth finding out for sure. As I felt myself getting weaker I decided to go against medical advice and stopped ignoring the fact that I had a disability. I began researching LGMD and discovered a foundation that offered free genetic testing. I signed up and began the process to figure out what form of muscular dystrophy I had. I researched leading doctors around me and decided I wanted to see the top neurologist at Ohio State University which was three hours away from me. By the time I talked my way into an appointment, I had researched enough forms of MD that I was pretty sure I had Bethlem Myopathy. The doctor as OSU assured me it wasn’t Bethlem and that I probably had SMA, but we would just have to wait on the genetic testing results, which he still wasn’t sure how I managed to get done without his authorization. The testing results came with a mutation in one of the Collagen VI genes (that leads to Bethlem Myopathy), and as strange as it sounds, I was so relieved when I saw it in writing. After 40 years of “ignoring” an unknown neuromuscular disorder, I now had an actual diagnosis, and it had an actual name. Now that I had a firm diagnosis, I began researching Collagen VI-CMD which lead me to Facebook of all places, and ultimately to Cure CMD. In 2017, my husband and I decided to attend the CMD Scientific and Family Conference (SciFam) in Washington, D.C. just to see what it was like. I had three questions that I really wanted answered and made those the goals for the trip: 1. Where did my symptoms fall on the Collagen VI-CMD spectrum? 2. Where did my disease come from and were other family members carriers? 3. What should I medically be doing right now to preserve my health? I created a binder with all my medical records that I thought could be helpful and began looking at the list of speakers to decide who could help answer my questions. With my binder in hand, list of questions ready, and names of doctors I wanted to stalk, I headed to my first conference. To say that SciFam was life changing is a huge understatement. I had no idea what to expect but the reality of it was far beyond anything I could imagine. Dr. Robert Graham (Boston Children’s Hospital) was the doctor I really wanted to look at my sleep studies and pulmonary function testing results. I actually passed him a note during a session asking if he would be willing to take a minute to look at my records during the next few days. He immediately turned to me and said “let’s go.” In the middle of that session, this amazing doctor went into the hall with us, looked at all my records and answered all our questions. Dr. Graham said I should have already been on night-time breathing support and using a cough assist, two things I knew from my research but my own doctors disagreed with. My next target was Dr. Reghan Foley (National Institutes of Health). I wanted to know where my symptoms fell on the Collagen VI-CMD spectrum, and I knew she could point me in the right direction. During a short break between sessions I saw her in the hallway and asked for her help. To my shock, she asked me if I had time to do a quick exam right now. What? One of the leading CMD experts was willing to stop during her break and examine me? So right there in the hallway, Dr. Foley looked through my binder of records, checked my contractures, and asked a bunch of questions – all to tell me Ifell in the middle of the spectrum, also called Intermediate COL6-CMD.
I could go on and on with stories just like these, and the relationships I forged at SciFam didn’t end there. Over the last several years there have been a few times that I have reached out to Dr. Graham, Dr. Foley, and Rachel Alvarez (Cure CMD's Executive Director) for guidance; the most recent when I contracted COVID19.
When the pandemic hit, I knew I was high-risk but I also knew I was doing everything I could to be prepared for it. I have a cough assist machine, breathing support, and great doctors; I almost felt like this is what I have been preparing for. It’s game time! When my parents and husband both tested positive and I was showing symptoms, I knew it was my turn and started keeping a close eye on my oxygen levels. I also contacted Rachel Alvarez and we were in close contact for the next couple of days. Rachel immediately suggested increasing use of cough assist and using breathing support more than just at night so that my body would be able to rest. She also kindly contacted Dr. Mayer and Dr. Foley, and would report back with their suggestions and guidelines. We had a game plan and I was then able to contact my care team with updated care standards to assure we were doing everything possible.
Rachel told me that Dr. Foley suggested getting approval for a newly approved drug, bamlanivimab that was showing potential for keeping high-risk patients out of the hospital. Within 24 hours, my doctors received approval to give me the drug, and I received the infusion that day. After the infusion, my oxygen levels began to return to normal, but my heart rate remained too low. I was sent back to the emergency department three days after the infusion for a complete workup revealing that my lungs were clear; my ABG, PH, HCO3, CO2 were a little high; heart rate was low; and O2 was borderline, but with the breathing equipment I had at home the doctors felt I was stable enough to go home rather than being admitted. Yay! Today I am 26 days into my COVID19 infection. I still have a low grade fever and cough but my oxygen levels and heart rate are both normal. It feels good to look back and say “we did it!” We made it through an illness that could have easily taken me out.
I say this because I am fairly certain if I had contracted COVID19 prior to discovering Cure CMD, the outcome would have been drastically different. If I look at all the things that have led me to be so prepared for this virus, it’s daunting. A few years ago, I didn’t even know that lung function is impacted by my neuromuscular disorder, let alone that it is often where we are the most vulnerable. I don’t say these things to pat myself on the back, because it is the team around me that has done all the hard work. I say this to encourage you. We have to be our own advocates. We have to be willing to stand up for ourselves, fight for ourselves, and protect ourselves however we can. I have fired doctors, been treated like I was crazy, been overlooked and judged; but I have also found my team, found the best doctors in the world, know more about Collagen VI-CMD than 90% of the doctors in the world (ok that might be an exaggeration), and now survived COVID19. I would say that’s a success!
If you or your affected child has tested positive for COVID19, please get in touch for the latest care protocols and information.