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Ummm... Other?

Muscular Dystrophy Patient Self-Diagnoses Own Disorders

This was a really interesting read. This woman had to spend hours and hours going through medical journals to find a reason for her health problems because doctors just sort of threw up their hands and said, at best, "I don't know", and at worst, "It's in your mind". And through this, she helped extend her father's life and discovered an Olympic athlete had the same mutation.

She was the muscular dystrophy patient, and she had an elaborate theory linking the gene mutation that made her muscles wither to an Olympic sprinter named Priscilla Lopes-Schliep. She offered to send me more info if I was interested. Sure, I told her, send more.

A few days later, I got a package from Jill, and it was... how to put it?... quite a bit more elaborate than I had anticipated. It included a stack of family photos -- the originals, not copies; a detailed medical history; scientific papers, and a 19-page, illustrated and bound packet. I flipped through the packet, and at first it seemed a little strange. Not ransom-note strange, but there were hand-drawn diagrams with cutouts of little cartoon weightlifters representing protein molecules. Jill had clearly put a lot of effort into this, so I felt like I had to at least read it. Within a few minutes, I was astounded. This woman knew some serious science. She off-handedly noted that certain hormones, like insulin, were too large to enter our cells directly; she referred to gene mutations by their specific DNA addresses, the way a scientist would.

And then I came to page 14.

There were two photos, side-by-side. One was of Jill, in a royal blue bikini, sitting at the beach. Her torso looks completely normal. But her arms are spindles. They almost couldn't be skinnier, like the sticks jabbed into a snowman for arms. And her legs are so thin that her knee joint is as wide as her thigh. Those legs can't possibly hold her, I thought.

The other picture was of Priscilla Lopes-Schliep. Priscilla is one of the best sprinters in Canadian history. At the 2008 Olympics in Beijing, she won the bronze medal in the 100-meter hurdles. It was the first Canadian Olympic medal in track and field since 1996. In 2010, Priscilla was the best 100-meter hurdler in the world.

The photo of her beside Jill is remarkable. Priscilla is in mid-stride. It's difficult to describe just how muscular she looks. She's like the vision of a superhero that a third-grader might draw. Oblong muscles are bursting from her thighs. Ropey veins snake along her biceps.

This is the woman Jill thought she shared a mutant gene with? I think I laughed looking at the pictures side-by-side. Somehow, from looking at pictures of Priscilla on the internet, Jill saw something that she recognized in her own, much-smaller body, and decided Priscilla shares her rare gene mutation. And since Priscilla doesn't have muscular dystrophy, her body must have found some way "to go around it," as Jill put it, and make enormous muscles.

If she was right, Jill thought, maybe scientists could study both of them and figure out how to help people with muscles like Jill have muscles a little more toward the Priscilla end of the human physique spectrum. Jill was sharing all this with me because she wasn't sure how best to contact Priscilla, and hoped I would facilitate an introduction.

I don't have any serious health issues and i've totally given up on doctors. I can't imagine how much more frustrating it was for Jill Viles. She had to research her own goddamned illness. And then when she tried to show doctors her research, they just poo-pooed her. I get that there are plenty of hypochondriacs out there who have no clue what they're talking about, but c'mon. It's not that hard to tell the difference.

I'm only going to a doctor if something happens and i can't stop the bleeding.


By min | January 21, 2016, 2:48 PM | Ummm... Other? | Comments (0)| Link



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