DIY diagnosis: How an extreme athlete uncovered her genetic flaw

I found their finances interesting. They seem to have made a very good living (including covering expensive medical conditions such as a pacemaker and travel from California to Mayo for treatment) by remodeling and reselling houses on a very part-time basis for over 30 years.

This is pretty cool. I like her learning style. I do the same thing, and I love the process of going from looking up every other word to being able to actually understand independently, even in small chunks.

> She scratched around in Google until she found uploaded PDFs of the articles she wanted. She would read an abstract and Google every word she didn’t understand. When those searches snowballed into even more jargon, she’d Google that, too. The expanding tree of gibberish seemed infinite—apoptosis, phenotypic, desmosome—until, one day, it wasn’t. “You get a feeling for what’s being said,” Kim says. “Pretty soon you start to learn the language.”

This is really quite amazing, but I'm not surprised. My personal (biased belief, because I've done basically the same thing, except on a less dire system) is that a lot of real biology discovery needs "active, attentive thinking" to identify, and not "big data" in the sense of the standard bioinformatics approach (although certainly massively parallel algorithms are useful for, say, assembling shotgun sequencing).

Basically, she identified which gene was likely responsible for two separate but potentially related conditions:

As Kim read about these conditions and their symptoms, she saw her entire medical history reflected back at her—the contracted muscles in her neck and back, her slightly misaligned hips and the abnormal curve in her spine. She saw her Charcot–Marie–Tooth disease.

She also saw a heart disorder linked to the LMNA gene that wasn’t ARVC but which doctors sometimes mistake for it. “Everything was encapsulated,” she says. “It was like an umbrella over all of my phenotypes. I thought: this has to be the unifying principle.”

She also had been essentially self-treating for many years without a diagnosis.

Url changed from http://arstechnica.com/science/2014/08/diy-diagnosis-how-an-..., which points (at the very end) to this.