What it's like to live with a progressive neuromuscular disease

Friday, January 4, 2013


By the time I was diagnosed with HIBM, I had gone from being able to run to only being able to jog to walking with a minor limp. So, I knew my days of engaging in other, more strenuous outdoor activities were numbered.

One of the activities I crossed off my list early on was skiing. Having grown up on the East Coast, I had skied my whole life. When we moved out to California in 1986, the frequency with which I skied diminished (some high school ski trips here and there) and by the time I was in college, I went only a couple of times. During those last few times I skied, I came to the realization that I just didn’t love it anymore. It was hard to admit to myself, but the truth was, it wasn’t much fun to be freezing with a cold windburned face and to have to schlep the gear and walk around in ski boots. I romanticized just sitting inside the ski lodge, sipping hot cocoa, taking in the scene.
So, when I was diagnosed and realized I wouldn’t be able to ski anymore, I almost felt okay with it. I reminded myself  that I wasn’t rationalizing when trying to comfort myself with the thought, “No major loss, I didn’t really enjoy skiing towards the end anyway. It’ll be fun to cozy up and read a book while my family is out braving the elements.”  
And then I had a son. The first time we took him to the snow, he was 10 months old. We stayed with close friends in a beautiful cabin and everything was picture perfect. But it was the first time I had confronted the snow with my disease. And it was hard. I cried to my husband at night, trying to understand what the big deal was since I didn’t really love the snow anymore any way, right? But for obvious reasons, that didn’t help.
Then we went back the next year and this time, we took the boys up and down the gondola. They were thrilled. At the top of the gondola, we stepped out onto the bunny slope where kiddie ski school was being held and all-of-a-sudden, just like that, it hit me. It was one of those epic ski days- invigoratingly cold but sunny, clear blue skies and fresh powder on the ground. I saw those little kids snow-plowing down the mountain and all I could do was imagine my son doing the same in a few years. And I was no longer content with the idea of drinking hot chocolate in the lodge. I knew I was going to want  to join him. I was going to want to share in that joy with him. I wasn’t going to be satisfied with watching from afar and waiting for him at the bottom.  But at the time, I didn’t see-or didn’t want to see-any way around it.
Fast forward 3 years. Two weeks ago, we went to Big Bear. It was my 5 year old son’s time to learn to ski. In the last couple of years, I had done my research and learned that there are adaptive ski programs at most mountains for people with disabilities where they can put you in a sit down apparatus and take you down the mountain. When I first heard about it, I could barely listen. But with enough processing of  the idea,  I told myself that if I really wanted to ski with my husband and sons and if I didn’t want to have to mourn yet another loss, then I was essentially going to have to get over it and do whatever I needed to do. I was going to have to work through the feelings of disappointment, sadness, anger and embarrassment, not just for myself, but for my family. So I somewhat spontaneously made a reservation for an adaptive ski lesson and decided I was just going to go for it. 
I walked into their little shack at the base of the mountain, looked around at all of the special equipment and gave them my name. I only let myself take in the scene for a fleeting moment because I knew I couldn’t afford to be too in touch with the feelings that were being stirred up. I tried to explain as best I could what my limitations are, telling them I needed some sort of sit down ski. But all the while, I was checking in on my body. I kept bending my legs slightly, shifting from side-to-side, thinking about how I can still do the stationary bike and elliptical machine at the gym and wondering if maybe I could give stand up skiing a try. I kept trying to quiet that voice in my head; it felt irrational, emotional, and even reckless. I countered it with reminders that the issue isn’t even if I still have the muscles to ski, but rather, what I would I do if I injured myself? I do not have the capacity to rehabilitate as others do and how would I ever forgive myself or justify something so stupid? But the two veteran ski instructors who were assigned to me- Spider and Jeff- only encouraged me when I shared my concerns. They said I should try one run (with a special piece of hardware that connected the tips of my skis together so I couldn’t do the splits) and if I had a hard time, then they would teach me how to use the other apparatus. I appreciated their support, but knew they didn’t really know what I was risking. I didn’t know what to do.  I heard my dad’s voice in the back of my head, the one I heard all those years growing up when on the slopes and about to try a jump: “don’t try to be a hero.”

I decided to step outside the shack and call my physical therapist who has become a dear friend. She knows my body better than I do. We agreed that the stiff ski boots would act as leg braces and since my quadriceps are still strong, then in theory I should be able to do it.  There was no mistaking her concern, but I knew she could sense the excitement in my voice and wanted to support me.  I stepped back inside. I felt  giddy and terrified. Spider and Jeff were eager to take  me out. The last thought that lead me to clip into stand up skis, grab my poles and allow them to pull me along to the lift was, “I don’t know if or when this opportunity will present itself again in the future. I don’t want to regret it if I don’t try to squeeze in under the window before it closes.” 

I will stop writing now and let you watch the rest. But I can tell you with certainty that That Day, the day when I got to ski down the mountain alongside  my husband and son after thinking for years I never would, the day my son got off the chair lift with me and said, “Don’t worry Mommy, it’s easy, I think you can do it!”, the day I overcame my fears and decided to allow myself to try to be a hero even if it meant not making the most rational, safest decision….well, it was one of the best, most exhilerating  days of my life.

Please visit the NDF website for more information about HIBM and how you can help fund a cure

Neuromuscular Disease Foundation

About me