How A Woman Diagnosed Her Own Genetic Mutation – And Saved Two Lives In The Process

Genetic Mutation

 

One of my best friends has a habit of sending me long articles.  He has this dream job where he seems to have all the time in the world.  I visited him at work once and he has his own office with a big desk and a multi-monitor set up and has people working under him.  It’s kind of a funny thought since I’ve known him since the fourth grade… but then again, I guess it makes sense since he’s one of the smartest and most diligent guys I know.

I understand that he does very important things and is highly accomplished… but I also wonder how he gets anything done at all when he’s sending me all these LONG articles to read.

Sometimes I scan them, sometimes I push them straight into my archive folder, and sometimes I get hooked and read and re-read through them.

That’s what happened with this article that he sent from The Atlantic… I was transfixed:

The Patient who Diagnosed Her Own Genetic Mutation – and an Olympic Athlete’s

(This also illustrates the sort of guy that he is.  Someone who reads the Atlantic at work.  When there’s some down time for me I’ll peruse ESPN and The Onion, but not this guy, he reads The Atlantic, a magazine that was recommended to me to prepare for the reading comprehension section of the MCAT).

This is the story of a woman, Jill, pictured on the right above, who relentlessly studied and read and dedicated her life to figuring out what was wrong with her body, despite being told by numerous medical professionals that what she thought was wrong.

She diagnosed herself with a rare type of genetic disorder called Emery Dreifuss muscular dystrophy after reading through countless scientific journals and comparing the findings with her own family pictures and family history.  This was how she saved her first life, her fathers:

Doctors had told Jill’s father years earlier that his irregular heart rhythms had been due to some kind of virus. “It’s not,” Jill told him. “We have Emery-Dreifuss.” She went to the Iowa Heart Center with her Emery-Dreifuss papers and started insisting that a cardiologist needed to see her father. At first, nurses told her she’d need a referral. But Jill had trouble getting one and was so relentless that eventually they gave in. The cardiologist put a Holter monitor on Jill’s dad, which tracked his heart’s electrical activity for a day. At one point, his pulse rate dropped into the 20s, which meant he was either about to win the Tour de France, or he might be about to drop dead. He was 45, and had a pacemaker put in immediately.

“She saved her dad’s life,” Jill’s mother Mary says.

Jill was so eager to prove her diagnosis despite repeated rejections from doctors that she appealed directly to the authors of a paper from Italy to test her DNA… which proved her right.

After more research she encountered another rare disease called partial lipodystrophy, where she saw parallels between pictures of patients and herself as well as her family members.  Again her ideas were shot down by doctors… and again she persisted.

She also noticed similarities between the Olympic sprinter Priscella Lopes-Schliep, pictured above on the left, and those of her family, and doggedly did everything she could to contact the Olympian and encourage her to have a genetic test.  That’s when she saved her second life:

Priscilla says, “and Dr. Garg calls me and says, ‘I have your results.’” Priscilla asked if she could call him back later, after lunch. He said that she could not. “He’s like, ‘You’re only allowed to have salad. You’re on track for a [pancreatitis] attack.’ I was like, ‘Say what?’”

Despite her monstrous training regimen, Garg informed Priscilla that, due to her unmonitored lipodystrophy, she had three times the normal level of triglycerides, or fat in her blood. Garg has had a number of partial-lipodystrophy patients with unusually large muscles who were good athletes, but none as muscular nor as athletically accomplished as Priscilla. He thought her training would probably protect her from the buildup of fat in her blood, but he was wrong. “I thought with her physical training, I’m not going to find much metabolic abnormalities,” Garg says. “But this was the one thing that was a severe problem on her blood testing.”

In other words, Jill had once again helped steer someone away from a medical disaster. She had prolonged her dad’s life, and now—once again with that cutting-edge medical tool Google Images—she caused the most intense medical intervention that a professional athlete had ever had.

Jill’s experience really resonated with me because of my own experience with the keto rash.  I too came up with a diagnosis after my own research, and I too had my idea shot down by a specialist… only to have it proven correct later on.  Of course having a dietary induced rash is nowhere near as devastating as having a rare muscular dystrophy, but I can certainly relate to her experience.

This really is an amazing story and I highly recommend that you read it (preferably not at work since it really is a LONG article):

The Patient who Diagnosed Her Own Genetic Mutation – and an Olympic Athlete’s

 

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