DIY Diagnosis: How an Extreme Athlete Uncovered Her Genetic Flaw

November 27, 2014 3:44 AM

She started by diving into PubMed—an online search engine for biomedical papers—hunting down everything she could on Charcot-Marie-Tooth. She hoped that her brief fling with a scientific education would carry her through. But with pre-med knowledge that had been gathering dust for 30 years and no formal training in genetics, Kim quickly ran head first into a wall of unfamiliar concepts and impenetrable jargon. “It was like reading Chinese,” she says.
posted by ellieBOA (15 comments total)

That's an amazing story! It also serves as a reminder of just how little we actually know about our genetic code.
posted by Pope Guilty at 4:28 AM on November 27, 2014 [1 favorite]

Citizen-scientists unite! With people and groups like Quantified Self and e-Patient Dave, democratization of medicine is happening (as stated in the article), and I'm very happy for it.
posted by JiffyQ at 5:05 AM on November 27, 2014

I'd like her to uncover now why she constantly exercises the way she does. I'm tired from just the description of her exercising so much.

Citizen-scientists unite! With people and groups like Quantified Self and e-Patient Dave, democratization of medicine is happening (as stated in the article), and I'm very happy for it.

I actually feel sorry for the healthcare professionals who already have to appease malingerers and worriers who immediately think they have whatever unique disease they read about online. (The same folks who can't effing bother to get a flu shot.)
posted by discopolo at 6:44 AM on November 27, 2014 [1 favorite]

Given her ability to understand the medical literature and interpret the results of her own genetic tests, Goodsell might have been in a position to help many hundreds of others had she pursued a medical career.

It's good she can now at least help herself.
posted by mistersquid at 7:40 AM on November 27, 2014 [3 favorites]

I don't, discopolo. I feel like if they don't like doing their fucking job, they should find a new job. Perhaps I'm speaking from a place of frustration, having spent $6000+ in deductibles over the past two years while my doctors play guessing games and don't actually listen to me, but the point stands.

(I'm sure my insurance company loved spending $10,000 in sleep apnea tests just to disprove Dr. Genius showing off in front of his intern, declaring he knew what must be causing 8+ weeks of migraines! Surely it was that! Guess what? It wasn't. My friend the ex-Pfizer research chemist had better opinions about possible causes, and she was looking up research for me out of love).
posted by bitter-girl.com at 7:48 AM on November 27, 2014 [15 favorites]

ellieBOA, thanks for posting this. It's a fascinating story. I'm building a hub for open research data at the moment in my day job, and was just discussing this kind of informed patient research with colleagues yesterday. Open access journals are really starting to help people with rare genetic diseases, and their doctors, to make discoveries about their conditions and contribute to research. This article by Sharon Terry of the Genetic Alliance makes the point quite forcefully.
posted by daisyk at 8:32 AM on November 27, 2014 [3 favorites]

This reminds me of the story of Eric Minikel and Sonia Vallabh - Vallabh was diagnosed as carrying the gene that causes Fatal Familial Insomnia, and they both quit their jobs to move into biological research and help find a cure. Minikel wrote a neat paper showing that the anticipation effect seen in this disease (where children get it at a younger age than parents) was an effect of ascertainment bias, and is now doing a PhD on rare disease.
posted by penguinliz at 9:09 AM on November 27, 2014 [2 favorites]

From TFA:

But Kim was never one for relying on others. She tried a support group when she got her implant, but it did nothing for her. She dipped her toes in patient forums, but was always frustrated by the rampant misinformation. “People just weren’t interpreting things correctly,” Kim says. “I wanted more rigor.”

OMG so much this. My eight-year-old daughter has Fructose Malabsorption Disorder, an unusual set of digestive intolerances that caused horrifying constipation, failure to gain weight, and hair loss and mouth sores from malnutrition until we got it diagnosed a little more than a year ago and which can only be treated with a very restrictive diet. Not very much is known about the condition; our pediatrican asked me to write a summary of everything that works for us and doesn't, saying "In the absence of solid data, I'm trying to build up a library of anecdotes." The most guidance I could get from a dietician was "you just have to trial in everything and see what works and what doesn't," except nobody could even tell me what the latency period would be between eating something bad and developing symptoms, or how much time symptom-free meant that a food was reliably safe.

So I looked for an internet group, obviously. The one I'm in is pretty good; at least they all have experience with the condition and can supply their own lived-experience anecdotes. But the scientific illiteracy and general lack of rigor is just so terrible, from people self-diagnosing SIBO and treating it with essential oils to people insisting that honey (55% fructose, same as HFCS) is fine for their child "because it's all natural" but corn syrup made from GMO corn (less than 1% fructose) is not. People claiming that their child's FM was caused by vaccines, despite the fact that they don't vaccinate; they blame it on epigenetics from the vaccines THEY received as children. This is a very frustrating condition to manage, particularly if you're a "just show me the science!" person like I am, because there just ISN'T that much science. But surely we can do better than woo and bullshit!

in conclusion, if anyone knows of a group that's like "fructose malabsorption disorder support and discussion where almost everyone is a biochemist," that would be great
posted by KathrynT at 11:44 AM on November 27, 2014 [12 favorites]

"People claiming that their child's FM was caused by vaccines, despite the fact that they don't vaccinate; they blame it on epigenetics from the vaccines THEY received as children."

Wow. Just...wow. That is some impressively high-level crankery.
posted by nicolas.bray at 12:08 PM on November 27, 2014 [3 favorites]

Wow. Just...wow. That is some impressively high-level crankery.

Like all the best crankery, it has a grain of . . . not truth, obviously, but you can follow the trail. The current best understanding for fructmal is that the upregulation mechanism in the GLUT transport mechanisms in the gut is, for some reason, fructose-blind. That upregulation mechanism? It happens epigenetically, across generations of intestinal cells. (This is part of what makes it hard to study.) One of Wakefield's ideas in his initial shotgun of efforts to blame the MMR vaccine for something was that it caused intestinal inflammation and leaky gut syndrome. Add in confusion between cell epigenetics and organism epigenetics, plus the fact that this condition almost certainly has something to do with gut flora but we don't know what and Vaccines Kill Bacteria (which: no) and an infant's gut flora is thought to be colonized from its mother during childbirth, and you can see how someone practicing cargo-cult science could come to this conclusion.
posted by KathrynT at 2:22 PM on November 27, 2014 [4 favorites]

Oh that is just awful, KathrynT.
posted by bitter-girl.com at 2:26 PM on November 27, 2014 [1 favorite]

Wow KathrynT. Good luck to you and yours finding a treatment plan.
posted by localroger at 6:34 PM on November 27, 2014 [1 favorite]

I can't put my finger on it, but I really liked this story. I love her attitude, her research, her belief in her own ability to potentially figure it out, and I really like that she seems to have reconciled with her brother with even him conceding that a lay person could do an amazing job on the research.

Thanks for posting.
posted by 724A at 8:48 PM on November 27, 2014 [1 favorite]

I've got a chronic illness which I will avoid naming here because I'm tired of people offering me woo. The internet is the worst thing in the world, when you are trying to figure out what to do. Any useful stuff is completely swamped by the thousands of people shouting about their particular trendy health practices. I'm tired of hearing about amalgam fillings and gluten and paleo and anti-vax ranting and homeopathy. The stuff I read online makes me feel like a galluping hypochondriac; it makes me feel so much worse! I eventually decided that the best thing I can do for my health, is to never ever google any of this stuff.
posted by elizilla at 3:04 PM on November 28, 2014 [1 favorite]

Cargo-cult science is such a great phrase, KathrynT!
posted by viggorlijah at 5:12 PM on November 28, 2014