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

Tuesday, June 21, 2011

It’s My Birthday

I have never blogged before. Maybe because it felt exhibitionistic or maybe because doing so presumes people will be interested in what I have to say. But recently, I have felt a need, an urgent and desperate need to express myself- to share what’s going on with me and my body, to help people understand what it’s like to live with a progressively debilitating disease and ultimately, to help raise awareness and call attention to this orphan disease. The truth is, hardly anyone even knows the name of this disease that I suffer with every day.

Five years ago I was diagnosed with a progressive neuromuscular disease called Hereditary Inclusion Body Myopathy. It is a very rare muscular dystrophy that typically strikes men and women in their 20s or 30s and then, according to all of the literature, leads to “severe incapacitation” within 10-15 years of onset. There is currently no treatment or cure. But there are labs in different parts of the world that are either very close to establishing one or simply waiting for funding to start human clinical trials on treatments already discovered.

I have not always felt comfortable talking or writing publicly about my condition. When I was first diagnosed, I was scared, embarrassed and ashamed. I did not tell anyone. I was having a hard enough time processing the information myself, let alone having the headspace to process other people’s reactions to it. But after a couple years, once I had moved closer to acceptance, I gave a “coming out” speech at the Neuromuscular Disease Foundation fundraising gala in June of 2009 and I shared my private thoughts and fears about living with HIBM. As vulnerable as I felt going public about my life with this disease, it was equally liberating and therapeutic. I have given two more speeches since then. For me they have evolved into an opportunity to educate people about HIBM, to chip away at the stigma (especially in my community) of having a genetic disease, and to inspire people to spread the word and ultimately, be a part of a cure. For the last few years, the annual speech felt like enough for me, like it was as much of myself as I was willing to share for the cause. But now that I am farther along in my disease progression, the anticipatory anxiety and fear that I regularly feel make it hard to feel like anything is enough. It’s becoming harder to find ways to cope with not knowing how much worse I am going to get and how long it will take. Because it never stops.

My hope is that if I keep up this blog, it can be yet another tool to help me process and cope, it can be a source of support for others struggling with the same or similar challenges, and it can help inspire people to join me in raising awareness and working toward a cure.

I am launching this blog on my birthday because for me (and I imagine for most people living with a progressive disease) birthdays have evolved into something very different from what they used to be. In the past, I looked forward to my birthday – a day to celebrate and be celebrated, a day that felt carefree, light and fun. I was never one to fret about getting older or to wish for anything beyond what I already had. But now, I almost dread my birthday. Mostly, it just feels like a painful reminder that I am getting one year closer to worse. Another year of new losses. Another year to look back and remember how much stronger I was on my last birthday. This is my second birthday wearing leg braces. And this is my first birthday that I am experiencing weakness in my right hand that makes it harder to write with a pen.

You see, it is not hard to fall into the deep dark vortex on my birthday, especially when I can painstakingly imagine all of the birthdays ahead of me and all of the losses I will have accumulated each year. What is hard, is to see beyond the darkness, to perceive my reality through different lenses. When I am able to do that, I can celebrate that this is my first birthday as a mother of two. On this day last year, I was convinced I was never going to be able to realize my dream of having a second child. This is another birthday I get to celebrate life with my husband, someone who always seems to make me feel like it’s going to be okay. And, as my sister pointed out to me, this is another birthday I get to celebrate the fact that I can still walk, with or without leg braces.

That’s the funny thing about life, we get to choose how we are going to frame it, how we’re going to interpret it, what we’re going to make of it and how we’re going to celebrate it.

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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