The DIY scientist, the Olympian, and the mutated gene (2016)

Whenever I hear stories like this that involve doctors and specialists dismissing patient concerns and evidence I always wonder if there is follow up with them later.

Not for punishment or anything but as a way to review and improve their practice. If not, then just think how many other people they have given poor treatment to who didn't have the personal determination and education to persevere.

I laughed out loud at this and I don't laugh much:

Discouraged by her encounter with the neurologist, Jill figured it would be a dead end to show up at a hospital and ask that her blood be drawn so she could ship it to Italy. So she convinced a nurse friend to smuggle needles and test tubes to her house. They filled them with her family’s blood. At the post office, when Jill declared that her packages contained blood, an employee had to retrieve a big binder that listed what can be shipped to various countries. Fortunately, Italy took blood in the mail.

This is a particularly good analogy:

To appreciate the scale of what happened to Jill, imagine enough letters to fill 13 complete sets of Encyclopaedia Britannica with a single-letter typo that changes the meaning of a crucial entry.

Re the Olympic athlete getting her test results:

‘You’re only allowed to have salad. You’re on track for a [pancreatitis] attack.’

And it goes on to say her blood lipid levels were way too high. Makes perfect sense to me. If your body isn't putting the fat where it normally goes, it's likely to be somewhere else if you are eating "normally" and haven't specifically changed your diet to accommodate your metabolic quirk.

Lastly, and not surprisingly, Jill is still scouring scientific journals. “Just in the past couple weeks I've stumbled onto a report linking the drug rapamycin to reversal of cardiac and skeletal muscle weakness in a mouse model of EDMD,” she says. “I have a 2-year-old nephew (though asymptomatic), who has genetically tested positive for this condition, and I would do absolutely anything to find a medication that could prevent cardiac and/or skeletal muscle damage in the case of EDMD.”

She should be looking at magnesium deficiency or misprocessing. It's linked to long QT syndrome, which is a heart rhythm issue, and critical to the body's ability to properly incorporate calcium.

Related:

The DIY Scientist, the Olympian, and the Mutated Gene - https://news.ycombinator.com/item?id=10916639 - Jan 2016 (5 comments)

(2016) If I were in a similar situation, I'd rather self-medicate than visit doctors who shut me down and refuse to listen or entertain the possibility their preconceptions are wrong.

What a remarkable story.