First of all, readers, I have finally posted a promotional clip for this book proposal. It seems to be necessary these days for authors to double as pitchmen (or pitchwomen).
http://www.youtube.com/watch?v=i0eyffGTHLU
Now, on to the business at hand -- the latest installment of MIRACLE BOY GROWS UP ... (O, that I were in your shoes, encountering these words for the first time!)
***
Finally, finally, finally the door opens and Mom and Dad come out and they're smiling and talking and shake hands with Dr. Spiro, who waves at me.
"So what was that all about?" I ask in the elevator. Dad's pushing me. I'm facing the back wall but it's a mirror so that's okay.
"Just grown-up talk," says Mom.
Mom is intense and coiled-up inside, like something forceful and beautiful wrapped in a tight package. She's about a foot shorter than Dad; Dad's a good six-feet-two-inches, with broad shoulders, though he's not athletic. One of the things Mom and Dad have in common is a great faith in doctors. To them, medical science holds all the answers. "It's not so many years since a man named Dr. Salk cured polio," Mom has told me many times.
I'm not too keen on the idea of a cure for my amyotonia, though. I'm used to my life as it is and any change would be really weird to get used to. I'm not so badly off as many people think I am. I'm not. I'm not like other handicapped kids!
In the car, my chair folded and crammed between the front and back seats, Dad driving, Mom tells me more. We always take the car to Dr. Spiro's because his office is in the Bronx or Queens or someplace like that. "Dr. Spiro is pleased with you. He feels you're doing fine."
"He always says that,” I say, even though it feels good to hear.
"He sees almost no change from last year, which means your amyotonia may be stabilizing. He says it's now called spinal muscular atrophy. You're not losing strength, and you should stay the same your whole life. You know there's no cure still, but you're not getting worse."
You mean I could have been getting worse? I can't recall a time when I had more strength than I have today. I'm told I crawled a little as a baby, which I can't do now, but I figure I was smaller and lighter then. In any case, I don't remember it. I have no sense of lost capacity. So Mom's news ripples past me with little impact.
Mom says we know the worst of it now. She sounds relieved as she says this. From behind the steering wheel Dad adds, "That's good news," in case I didn't understand. If it's such good news, why was I kept out of the doctor's office? And what took so long in there? Just grownups' way of doing things, I guess. I look out the car window. It's getting dark.
If the bad guys pulled up alongside our car now and started shooting, I'd crash out through the window and jump on top of their car. I'd reach inside their window and pull out the driver. If the car started to skid off the road I'd jump off just in time. I'd roll on the ground with guns flaring. They'd run and I'd chase. They wouldn't have a chance. Even if they thought they had me they'd be proved wrong. Just when the bad guys felt I was down and out, I'd shock them by coming up strong and defeating them all, just like I surprise doctors with my strength and intelligence ...
"Of course, you're not going to get any stronger either," Mom says then. "There are no treatments for spinal muscular atrophy, none discovered yet anyway, but that's okay, isn't it? We'll keep hoping, but meanwhile we have to get on with our lives."
I can't read her face. There's a sharp turn at the end of the Triborough Bridge. I know it's coming. It always makes me tip over sideways in my seat, and I silently brace for the inevitable.
***
Showing posts with label amyotonia. Show all posts
Showing posts with label amyotonia. Show all posts
Tuesday, July 20, 2010
Wednesday, July 7, 2010
Part 2 of "Miracle Boy": 1962-1968
In 1962, 4 million babies are born in the U.S.—nearly 700 of them with an undiagnosed neurological disorder that will gradually weaken their muscles until, in most cases, breathing becomes too difficult, pumping blood becomes impossible, and they die.
I am one of the 700.
Though hereditary and therefore genetically present at birth, spinal muscular atrophy—as it's now known—can remain invisible until late-childhood or even adulthood. Mine shows up before I'm six months old. Half of those who manifest symptoms in infancy die before they reach the age of two. Their hearts and lungs become too weak to go on.
I am one of the lucky ones.
By the time I'm six months old my mother has already noticed I'm not progressing as my older brother Alec did. I can't sit up by myself. When placed in a sitting position, I fall over. After I bang my head on the parquet countless times, my parents stop sitting me on the floor. They sit me on the sofa instead, surrounded by pillows. They sit me in a high chair, where I can be strapped in. Later, they put a small football helmet on me, especially when I try to balance on my rocking horse or tricycle, or when Alec and I roughhouse. It's too heavy, however, and makes staying upright even harder.
My parents know something is wrong, but they don't know what.
They ask the pediatrician, who refers them to a specialist. The specialist recommends another specialist. And so on. The months become years, during which I am paraded before countless physicians, therapists, researchers and even a few crackpots. No faith healers (thank God!); my parents are not praying people. Still, I wouldn't be surprised if they offered up a few silent ones during the long waits in hushed waiting rooms and, privately, in the dead of night.
Even in the 21st century, when SMA is well known among neurologists, there's no slowing or stopping it. It's now considered the most common cause of genetically based neonatal death. It's estimated that one in every 6,000 Americans is born with a form of it, and one in 40 carries the gene that causes it without ever manifesting symptoms. In comparison, approximately one in every 300 Americans is HIV-positive, and one in every 206 has some form of cancer, according to the Centers for Disease Control and Prevention. SMA is more common than, say, ovarian cancer, which strikes one in every 8,065 American women (including my mother and maternal grandmother).
Not until the 1990s do researchers finally zero in on the exact genetic mechanism behind SMA. Most cases stem from a faulty gene on the fifth chromosome which results in a deficiency of what's called SMN1, a necessary protein. This deficiency, in turn, depletes motor-nerve cells in the spinal cord. But certain instances of infantile SMA have a different culprit—a mutation of a gene called UBE1, which happens to be on the X chromosome. This mutation impedes the disposal of a bad protein, allowing it to flourish. I don't know which version causes my SMA. In either case, these markers make SMA scientifically identifiable and may someday lead to effective treatments.
But in the 60s, when I'm a child, SMA is undiagnosable and, perhaps consequently, considered extremely rare by those who have heard of it at all.
So I'm at first diagnosed with many other conditions. Spina bifida. Brain damage. Mental retardation. That last one invariably coaxes a chuckle from my dad later, in the retelling: "Those doctors were mentally retarded!" In my cerebral family, God forbid you should make fun of the physically handicapped—and don't dare say "cripple"—but the mentally retarded are fair game.
One thing all the doctors and sundry experts agree upon, however, in the early-60s: I'm a "floppy baby." I have what's called "floppy-baby syndrome." It's still a recognized pathology in medical dictionaries. I lack muscle tone. A more scientific-sounding word for lacking muscle tone is "amyotonia," and that's what becomes my first official diagnosis. I learn to say "amyotonia" before I can add two and two. For me, it's a way of understanding my body—a plausible answer for the strangers who point at me and ask, "What's wrong with him?"
Or more accurately, "What's wrong with her?" The blond curls and long eyelashes I sport in those days apparently emasculate me. Never "What's wrong with you?" Till I'm at least seven I'm considered not competent to answer such a question.
Nothing is wrong with me! I just have amyotonia, I think to myself. My typical spoken answer, once I'm old enough and courageous enough to speak up: "I can't walk. I was born this way." It seems simpler and sufficient.
I never walk or stand. On my own, that is. When I'm four my doctors prescribe a battery of physical therapy; as part of it I'm fitted with heavy, metal leg braces. The braces lock me into a statue-straight posture. I'm then placed in a large wooden box, which supports my standing frame. I do this for an hour, three times a week ... to aid circulation and overall well-being, or something. Honestly, it must have been thought up by an able-bodied fitness nut! It's the closest a modern American child can come to foot binding—yet it's still recommended for many kids in wheelchairs! Luckily for me, the standing therapy is rescinded in a matter of months, when it's determined to have no value. Nevertheless, other physical-therapy exercises continue.
In nearly every other aspect I'm a healthy and happy kid. Yet every time I catch a cold I'm at high risk for pneumonia. I can't cough with sufficient force to clear mucus from my lungs. Regardless, from an early age I refuse to think of myself as fragile. Sure, I'm floppy and do bump my head a lot, but I always bounce back. I'm tough, resilient. I'm a survivor. The labors of my disability strengthen my character.
Other remedies are offered from time to time by physicians, therapists and outspoken streetcorner healers: Massive doses of vitamin E. Transplants of sheep blood. And, of course, acceptance of Jesus Christ as my savior. For the most part my parents resolutely favor modern medical science, but in those days even the legit experts come up abashedly empty-handed. For one thing, my symptoms keep defying expectations.
Specifically, I don't die.
***
[Coming next: my brother...]
I am one of the 700.
Though hereditary and therefore genetically present at birth, spinal muscular atrophy—as it's now known—can remain invisible until late-childhood or even adulthood. Mine shows up before I'm six months old. Half of those who manifest symptoms in infancy die before they reach the age of two. Their hearts and lungs become too weak to go on.
I am one of the lucky ones.
By the time I'm six months old my mother has already noticed I'm not progressing as my older brother Alec did. I can't sit up by myself. When placed in a sitting position, I fall over. After I bang my head on the parquet countless times, my parents stop sitting me on the floor. They sit me on the sofa instead, surrounded by pillows. They sit me in a high chair, where I can be strapped in. Later, they put a small football helmet on me, especially when I try to balance on my rocking horse or tricycle, or when Alec and I roughhouse. It's too heavy, however, and makes staying upright even harder.
My parents know something is wrong, but they don't know what.
They ask the pediatrician, who refers them to a specialist. The specialist recommends another specialist. And so on. The months become years, during which I am paraded before countless physicians, therapists, researchers and even a few crackpots. No faith healers (thank God!); my parents are not praying people. Still, I wouldn't be surprised if they offered up a few silent ones during the long waits in hushed waiting rooms and, privately, in the dead of night.
Even in the 21st century, when SMA is well known among neurologists, there's no slowing or stopping it. It's now considered the most common cause of genetically based neonatal death. It's estimated that one in every 6,000 Americans is born with a form of it, and one in 40 carries the gene that causes it without ever manifesting symptoms. In comparison, approximately one in every 300 Americans is HIV-positive, and one in every 206 has some form of cancer, according to the Centers for Disease Control and Prevention. SMA is more common than, say, ovarian cancer, which strikes one in every 8,065 American women (including my mother and maternal grandmother).
Not until the 1990s do researchers finally zero in on the exact genetic mechanism behind SMA. Most cases stem from a faulty gene on the fifth chromosome which results in a deficiency of what's called SMN1, a necessary protein. This deficiency, in turn, depletes motor-nerve cells in the spinal cord. But certain instances of infantile SMA have a different culprit—a mutation of a gene called UBE1, which happens to be on the X chromosome. This mutation impedes the disposal of a bad protein, allowing it to flourish. I don't know which version causes my SMA. In either case, these markers make SMA scientifically identifiable and may someday lead to effective treatments.
But in the 60s, when I'm a child, SMA is undiagnosable and, perhaps consequently, considered extremely rare by those who have heard of it at all.
So I'm at first diagnosed with many other conditions. Spina bifida. Brain damage. Mental retardation. That last one invariably coaxes a chuckle from my dad later, in the retelling: "Those doctors were mentally retarded!" In my cerebral family, God forbid you should make fun of the physically handicapped—and don't dare say "cripple"—but the mentally retarded are fair game.
One thing all the doctors and sundry experts agree upon, however, in the early-60s: I'm a "floppy baby." I have what's called "floppy-baby syndrome." It's still a recognized pathology in medical dictionaries. I lack muscle tone. A more scientific-sounding word for lacking muscle tone is "amyotonia," and that's what becomes my first official diagnosis. I learn to say "amyotonia" before I can add two and two. For me, it's a way of understanding my body—a plausible answer for the strangers who point at me and ask, "What's wrong with him?"
Or more accurately, "What's wrong with her?" The blond curls and long eyelashes I sport in those days apparently emasculate me. Never "What's wrong with you?" Till I'm at least seven I'm considered not competent to answer such a question.
Nothing is wrong with me! I just have amyotonia, I think to myself. My typical spoken answer, once I'm old enough and courageous enough to speak up: "I can't walk. I was born this way." It seems simpler and sufficient.
I never walk or stand. On my own, that is. When I'm four my doctors prescribe a battery of physical therapy; as part of it I'm fitted with heavy, metal leg braces. The braces lock me into a statue-straight posture. I'm then placed in a large wooden box, which supports my standing frame. I do this for an hour, three times a week ... to aid circulation and overall well-being, or something. Honestly, it must have been thought up by an able-bodied fitness nut! It's the closest a modern American child can come to foot binding—yet it's still recommended for many kids in wheelchairs! Luckily for me, the standing therapy is rescinded in a matter of months, when it's determined to have no value. Nevertheless, other physical-therapy exercises continue.
In nearly every other aspect I'm a healthy and happy kid. Yet every time I catch a cold I'm at high risk for pneumonia. I can't cough with sufficient force to clear mucus from my lungs. Regardless, from an early age I refuse to think of myself as fragile. Sure, I'm floppy and do bump my head a lot, but I always bounce back. I'm tough, resilient. I'm a survivor. The labors of my disability strengthen my character.
Other remedies are offered from time to time by physicians, therapists and outspoken streetcorner healers: Massive doses of vitamin E. Transplants of sheep blood. And, of course, acceptance of Jesus Christ as my savior. For the most part my parents resolutely favor modern medical science, but in those days even the legit experts come up abashedly empty-handed. For one thing, my symptoms keep defying expectations.
Specifically, I don't die.
***
[Coming next: my brother...]
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