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

Thursday, March 10, 2016

Finally, I’m here. I’ve arrived!

When I was first diagnosed with HIBM (or as it’s now often called, GNE myopathy) almost 10 years ago, I couldn’t even say the name of the disease out loud. I could barely accept that I had it. I didn’t want anything to do with it. I didn’t want to read about it, I didn’t want to talk to any other patients, I didn’t want to attend any fundraisers and I most certainly did not want to meet any other patients. It was all I could do to cope. I was barely hanging on. It was all too much. Too scary. Too painful. Too real. So I didn’t push myself. I went at my own pace. I knew it was to the dismay of some loved ones who thought it would benefit me to reach out to other patients for support. Especially those who seemed to be doing quite well living with the disease. But I wasn’t ready. I admittedly felt a bit self-conscious of my process. It seemed that other newly diagnosed patients were able to jump right in and access any and all resources that were available to them. But I wasn’t.

In the early years, I cried all the time. I cried not only about what was happening in the moment, but also about what I realized was never going to happen in my future.

I cried every time I thought of not being able to dance at my kids’ weddings. (For whatever reason, that one came up a lot at the beginning). Then, as I continued to progress, I cried when I thought about possibly not being able to stand up on the bimah at their bar-mitzvahs.

I cried (and became angry and defensive) the first time somebody suggested I consider surrogacy as a way to have a second child to complete my family.

When I watched my mother and mother-in-law act as night nurses for my boys when they were babies, helping me throughout the night, voluntarily exhausting themselves for the love of their grandsons, I cried because I knew I’d never be able to do that for my own children and their babies.

I cried myself to sleep the first time I went to the snow with my 10 month old (who will be turning 9 in May) because I knew then that I’d never be able to ski down the mountain alongside him the way my parents did with me. And when someone so lovingly told me there were adaptive ski programs at most mountains, I became angry and defensive because I wasn’t interested in some special program to help me. I was interested in having my old skiing body back.

I used to cry a lot. And I still do my fair share of crying, but it’s different. My mind travels to all of those same places in the future, 10 or 20 years down the road, but when it gets there, it sees something very different from what it saw back then. I was wearing different lenses then. I couldn’t see through the pain and the loss. It was cloudy and dark. I was too angry to try to envision any other scene. I simply couldn’t.

But of course I couldn’t. I hadn’t yet honed any coping tools at the start of this journey. I couldn’t possibly imagine tolerating where I am now when I was all the way back there. Quite frankly, it would have been odd if I had been able to embrace it. I just wasn’t there yet. And no matter how many people tried to reassure me that I would eventually figure it out or that it would be okay, I didn’t buy it.

Here’s where I am now…

For the last few years, I have taken my family to the snow and managed to ski standing up, with some simple modifications, for a few hours each trip. The last time I did, I lost control and gently crashed into a group of young girls in ski school, one of whom said so adorably and sympathetically, “It’s okay, don’t worry, we were all beginners once!” As I smiled at her sweetness, I felt that familiar pang in my heart that comes with every new loss. I knew that was the last time I would try to ski standing up.

Spring break is approaching. My younger son is turning 5 and he is ready to get serious about skiing. And so am I.

A strange thing has transpired. I am excited. I am excited to enter into this new world. I am giddy just imagining myself skiing down the mountain with my family. I spent 30 minutes on the phone with the head of the Mammoth Mountain adaptive ski program yesterday. She was awesome. Who knew there were so many options? A ski bike? A mono-ski? A bi-ski? I’m so curious to see which one will work for me. I am so excited to just get on the mountain. To show my boys what I can do. To feel the cold and work up a sweat. To get to earn my apres-ski hot chocolate. It’s strange. It almost feels as if I’m betraying my younger, more skeptical, more defiant self. As if I shouldn’t be okay with this. And yet, it also feels as if I’m giving her a precious gift. One I couldn’t receive until now.

I wish I could give this gift to newly diagnosed patients. I wish I could say to them, “Look at me! I’m doing it! Don’t worry, you’ll figure out a way too! Your own way!” But if they are anything like I was then, they will likely just cry while reading this. Or feel angry. Or hopeless. And I wouldn’t blame them.

Everyone has his or her own process. I am only here to share mine. Mine doesn’t always feel as easy or as fast as I would like, but it got me here. I’m here. I made it! Right now.

And for that, I am so grateful.



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

Neuromuscular Disease Foundation

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