Spinal muscular atrophy

Trains, Trains, and Buses

Posted on by Mark Aldrich

Angry, barking angry. “Ass-hat angry,” neither of my grandfathers would have called it, because neither of my grandfathers ever said “ass-hat.” So angry that both of my departed grandfathers in the hereafter would have been forced to come up with pretend back-country colloquialisms to describe their grandson, also known as me. That frustrated and angry.

The story has a happy ending, of course. And the anger departed the moment it was expressed at the anonymous Newark-ian who knocked me over Thursday night.
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50 Ways

Posted on by Mark Aldrich

Mistakes suck. Errors do, too.

Adverbs will never go hungry for a lack of work in many writers’ drafts, including mine, but that part of speech demands erasure whenever one encounters it. Adverbs are the empty calories of the English language: They are tasty, and they appear to be helpful when we want to bend a verb to do our verbal bidding and guide our eager reader(s) to share our thought-patterns, when context and the verb itself are capable of handling the task just fine on their own. They are potato chips and cotton candy blended into a linguistic smoothie.

All of the personal errors in my history can be described with an adverb, colorfully. Merely an adverb minus a verb or other details, so no personal stuff, no self-incriminating or embarrassing information might be revealed: complacently, awkwardly, abruptly, vigorously, languorously, braggingly, disgustingly, violently, wrongly. Timidly. Brazenly. Very. Many “verys” in there.
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‘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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