Spinal muscular atrophy

Listen, Do You Want to Know a Secret?

Posted on by Mark Aldrich

The Atlantic Ocean. Each one of those tiny dots in the photo above is a person with a life, a voice, loved ones, losses. Sunburns.

We are standing, you and I, in front of the “Beach Hut” at Smith Point County Park on the South Shore of Long Island. It is 2014, one of the more recent years in history. For much of my adult life, I have sat here internally convinced that I do not like “the beach.” I do not remember when I convinced myself of this. I do not remember an unpleasant beach incident that convinced me that I possessed this piece of self-knowledge about my … self.
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‘Making Our Voices Heard’: Rare Disease Day 2016

Posted on by Mark Aldrich

Last year, when I wrote about Rare Disease Day, a friend asked, tongue firmly in cheek, “Why not have Rare Disease Day on February 29th?” I admit that when I learned about Rare Disease Day several years ago, after I was diagnosed with one, a similar joke crossed my mind. Each year, the last day in February is the date for International Rare Disease Day, and Leap Day, that quadrennial day, is a good one for us to remind the world that rare diseases are not at all rare.

Today, February 29, is International Rare Disease Day, and “Making the voice of rare diseases heard” is this year’s slogan.

Rare Disease Day was first established in 2008 by EURODIS, the European Rare Disease Organization. In 2009, the National Organization for Rare Disorders (NORD) in the United States joined the effort to educate the public.
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Upside Down

Posted on by Mark Aldrich

For a year I lived with a diagnosis of Friedreich’s ataxia, a genetic, neuromuscular disease whose symptoms are quite close to mine.

My symptoms: Since 2005 I have been aware, at first dimly, of a mobility disorder developing in me; today, in 2015, I walk with a cane or impressive walking stick, stiffly, like I am wearing very tight jeans; I have little sensation in my lower legs and even have moments of “body confusion” in which I think I am moving my right leg but my left leg moves. I sway when I stand and fall/walk into walls and my sense of not knowing where I am in the world contributes moments of comedy to my day. I was in my mid-30s when the symptoms began to attract my attention, which means the symptoms began to appear several years earlier.

Instead, it is very likely that I have a disease called spinal muscular atrophy, but I am grateful for that year in which I thought I had Friedreich’s ataxia. This is because all that I knew upon learning my diagnosis was my diagnosis—Dr. M, my neurologst, did not even hand me a tri-fold pamphlet, “So You Have a Potentially Life-Shortening Condition,” if such an item is even available—but there were online groups ready to embrace someone like me.
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