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Mystery disease only affects one family in the entire world

 
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kamalktkOffline
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PostPosted: 09-02-2014 02:04    Post subject: Mystery disease only affects one family in the entire world Reply with quote

It's quite long so I don't want to post the whole thing here. This family suffers from a single gene genetic mutation that kills in a gruesome manner. This mutation appears to only be a few generations old, and the family is trying to ensure that the mutation does not spread.

http://www.nbcnews.com/news/us-news/catch-killer-gene-sisters-race-stop-mystery-disease-n14451
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“The family gene,” as Joselin calls it, surfaced in the late 1980s, when her father William came home from a family trip complaining of swollen legs and strange fatigue. He waved it off as jet lag, but the swelling spread and the fatigue deepened. He was 40, vibrant and fit, a busy doctor in Columbus, Ohio. But within a couple years he was forced into semi-retirement, hardly able to take the stairs.

“I’m very, very sick,” he told Joselin, who was then 17, and surprised to see her father start to cry. In the years that followed, his body filled with a creamy white fluid, which doctors pumped out by the liter. He got rounder, but lighter, his muscles withering even as something in his belly grew.

He moved into Brigham and Women’s Hospital, a Harvard-affiliated facility in Boston, where he confounded some of the country’s best doctors. In his records, which Joselin shared with NBC News, a series of gobsmacked specialists noted “puzzling results…an occult malignancy…something brewing.” None could come up with a diagnosis, however, let alone a cure.
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Human_84Offline
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PostPosted: 09-02-2014 04:24    Post subject: Reply with quote

Could it have been a demonic possession of his entire bloodline by a wood elf or some other spirit encountered while on the family trip (if it were a camping trip)? The description rings demonic.
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HenryFortOffline
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PostPosted: 09-02-2014 09:05    Post subject: Reply with quote

its a genetic malformation
Quote:
"to catch a killer gene"

the crux of the story is the actions being taken by the single afflicted family to stop the spread
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MythopoeikaOffline
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PostPosted: 09-02-2014 09:42    Post subject: Reply with quote

Quote:
...his body filled with a creamy white fluid...


Sounds a bit like what happened to my grandmother when she was 80-odd.
Doctors opened her up and found this unidentified fluid inside her. All they could do was drain her out and put her on antibiotics. She recovered, and lived to be 95.
The doctors were baffled - they'd never seen this before.
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Human_84Offline
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PostPosted: 09-02-2014 11:13    Post subject: Reply with quote

[quote="HenryFort"]its a genetic malformation [quote]

Maybe caused by demonic possession.
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MythopoeikaOffline
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PostPosted: 09-02-2014 15:29    Post subject: Reply with quote

Human_84 wrote:
HenryFort wrote:
its a genetic malformation

Maybe caused by demonic possession.


Of course - that is the only possible cause of a genetic disease. Wink


Last edited by Mythopoeika on 09-02-2014 18:16; edited 2 times in total
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Human_84Offline
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PostPosted: 09-02-2014 17:33    Post subject: Reply with quote

Mythopoeika wrote:
Of course - that is the only possible cause of a genetic disease. Wink


I agree with this. Cool


Last edited by Human_84 on 09-02-2014 17:57; edited 1 time in total
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HenryFortOffline
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PostPosted: 09-02-2014 17:36    Post subject: Reply with quote

hey you've misquoted me
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SHAYBARSABEOffline
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PostPosted: 11-02-2014 19:45    Post subject: Re: Mystery disease only affects one family in the entire wo Reply with quote

I wonder if anyone tested these people for parasites.

Finding a mutation and tracing it back is fine science, but could be a red herring, too. What if the mutation allows a particular parasite to flourish when it would be flushed in anyone who didn't have the mutation?

What the sisters are doing by trying to stop this disease seems commendable, although this bit from the article seems peculiar:

"tracked the mutation back to a “founder”: Joselin’s great-grandmother, Mae. She seems to have developed the mutation spontaneously, at the moment of her own conception, and died of the disease at age 51.

It’s possible that Mae inherited the disease from her mother, Esther, who, according to family lore, developed swollen legs after hanging laundry one winter on a rooftop in Brooklyn. "

If the sisters inherited this mutation from their great-grandmother, might not there be other branches of the family who have it and will spread ti?
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