spinal muscular atrophy

‘Day by day’: Rare Disease Day 2015

Posted on by Mark Aldrich

“Day-by-day, hand-in-hand.” Today, February 28, is International Rare Disease Day, and “Day by day, hand in hand” is this year’s slogan. As slogans go, “#TheDress” might have received more attention today, but tomorrow the world will not remember this week’s Twitter trends and millions of people will still be living day by day with rare diseases.

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. This year’s theme is “Living with a Rare Disease.” Some rare diseases are life-shortening, and even kill in infancy. All of them are life-altering.

Once upon a time, rare diseases were called “orphan diseases,” and, really, neither term alone quite conveys the concept. One rare disease may affect only a few individuals, making it something that is rarely seen; diseases and conditions that affect just a few people are sometimes viewed as research dead ends, “orphans” in drug and treatment research. The medical industry wants to aid the greatest number of people, and research money is hard to win for research into a condition that affects only a few thousand individuals.

Rare is not so rare, however. There are about 6000 rare diseases that are officially recognized as such; since each one affects (by definition) fewer than but up to 200,000 people per condition, some researchers estimate that 300 million people around the globe have a rare disease. That is about one in 25 people on the planet.

If you visit a restaurant tonight or go see a movie, a couple of us with a rare disease are hanging out with you. Hello.
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Sleep, Perchance to Zzzzzzzzz

Posted on by Mark Aldrich

We measure the quality of our day by the number of achievements we have. Number of documents published versus quality of work, or the number of times this week we beat personal commuting records to and from the office, or numbers of reps at the gym, or, worse, for those dieting, number of days without “cheating,” which represents even more harsh ways to harshly self-judge.
We live in a culture of Other Peoples’ Success and thus exist in a competition with others for more successes than them and yet better ones. This is because, as Brené Brown, a famous sociologist, points out, we live in a “culture of scarcity. We wake up in the morning and we say, ‘I didn’t get enough sleep.’ And we hit the pillow saying, ‘I didn’t get enough done.’ We’re never thin enough, extraordinary enough or good enough—until we decide that we are. The opposite of ‘scarcity’ is not ‘abundance.’ It’s ‘enough.’ I’m enough.”
I’m enough. Not “I’m good enough.” I’m enough. How hard that is to say, and to mean it to be about me, myself, and not you. It is even harder to embrace.— “Get Some Sleep Already,” October 24, 2014

I only remember my nightmares. Which means that either I do not have pleasant dreams at all (not the case) or that I have them all the time but they are unremarkable to me because I live my life under the self-centered guiding philosophy that the only life worth experiencing always feels like a victorious night at an awards ceremony, so I spend my waking life continuously happy and flinging thumbs-up signs at the world (not the case, either).
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Punching Out

Posted on by Mark Aldrich

I have my final pay stub somewhere around here, detached long ago from the check whose sum it explained. It dates from late June 2010 and I should bronze it like a baby’s shoes.

As it is for me with many other aspects of a common American—well, not just American, human—life, my relationship with work is, um, not uncomplicated. Off the top of my head, from age 15 till 40 I held 14 different clock-punching jobs from almost as many employers, with a couple employers that hired me more than once. Not included in the list is the newspaper reporter job I quit via fax machine the morning of day one, because I really am a terrible employee and I guess I wanted to prove it quickly, and the one time I was paid for an acting gig. (I was onstage with a cardboard box on my head and a ukelele in my hands—it was a little avant garde, and getting paid five bucks made it even more so.)

Life for me for the last four-and-a-half years has been nothing but free time, yet I have never been quite so productive. I will explain.

I have not been another person’s employee since the summer of 2010, when I was asked to leave my last job, which I had not enjoyed—with pay—for a total of three years and nine months, which is three years and nine months too many. The manager and I decided (quite amicably) that I no longer needed to consider him my boss and that he, equally so, no longer needed to consider himself my boss. On that much we agreed, so we parted company and even deleted each other from one another’s Facebook. It was that complete a firing.

The symptoms of my diagnosis had been prominent for most of the three years and nine months; I started walking with a cane in 2007. When the symptoms of adult spinal muscular atrophy first showed, they came suddenly. Only recently have I learned that this is a common experience among people with neurodegenerative diseases. When walking becomes difficult—in my case because the nerves that had been sending ever dimmer signals to my legs (whose muscles had started to atrophy from receiving ever dimmer signals, and thus were not being asked to work)—the end of normal walking comes as if everything had been just fine one day, and the next day it as if one’s shoes had been nailed to the ground or one’s co-workers had painted the floor with superglue. (I must not have liked the job very much, if I thought such a prank was possible!) It is sudden and scary when the progression of deterioration goes undetected and is even undetectable until the day it is completely not.

Since my last job was not a high-paying one and did not offer free or simply less expensive health insurance, I had none. So I neither spoke with anyone about my developing deterioration, nor did anyone suggest I do so. But being suddenly unemployed (so thoroughly unemployed my boss had unfriended me, please recall) meant I could get poor people’s health insurance, Medicaid. (This is before the Affordable Health Care Act, which also has in fact benefited me.)

With Medicaid came the, “Hey, doc, what gives with my legs?” conversation, and, eventually, the answer(s). With the answers came Social Security Disability, which is my sole income as of right now. If I had had insurance at an earlier date, perhaps I would have received the diagnosis and declaration of disability earlier and been able to leave my last employer on better terms. Entertaining such hypotheticals is a highly un-useful pastime, I find.

My barber asked me recently, “What do you do?” And I replied, “I am a retiree.” As I have written elsewhere, I am an alcoholic in recovery, sober several years, and I am living “Mark’s Life, Version 2.0.” The universe has afforded me a second life (not the famous online virtual community, a real second life), and the opportunity is not being wasted. I am writing, every day, on a schedule of my own fashioning, speaking with and sometimes counseling people.

There are three jobs every person in recovery thinks of pursuing, as I certainly did: becoming a counselor (but the hours of training are arduous), becoming a truck driver (perhaps because a desire to escape partly fueled the addiction and does not leave), and, after being told by enough people, “You oughta write a book about your stories,” a writer. Luckily, I already am a writer. My days are mine, every day.

(This is a revision of a column from August 21, 2014.)

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The WordPress Daily Prompt for December 9 asks, “You’re given unlimited funds to plan one day full of any and all luxuries you normally can’t afford. Tell us about your extravagant day with as much detail as possible.”

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