[HN Gopher] The DIY scientist, the Olympian, and the mutated gen...
___________________________________________________________________
The DIY scientist, the Olympian, and the mutated gene (2016)
Author : barry-cotter
Score : 52 points
Date : 2023-01-08 08:38 UTC (14 hours ago)
(HTM) web link (www.propublica.org)
(TXT) w3m dump (www.propublica.org)
| nyanpasu64 wrote:
| (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.
| [deleted]
| [deleted]
| [deleted]
| whatshisface wrote:
| There's no medications for that disorder, she was getting
| people in touch with scientists.
| tanbog5 wrote:
| 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.
| pfdietz wrote:
| What a remarkable story.
| DoreenMichele wrote:
| 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.
| dang wrote:
| Related:
|
| _The DIY Scientist, the Olympian, and the Mutated Gene_ -
| https://news.ycombinator.com/item?id=10916639 - Jan 2016 (5
| comments)
___________________________________________________________________
(page generated 2023-01-08 23:01 UTC)