The DIY Scientist, the Olympian, and the Mutated Gene

January 9, 2023 7:55 AM

A woman researches her debilitating disease, eventually gets past gatekeepers, and contributes to science and to some people's health. This story is from 2016, but it's updated. It's a complex story, with a lot about determination, luck, and what's known so far about the science of Emery-Dreifuss, a rare sort of muscular dystrophy. Jill Viles, a woman with a muscle wasting disease, did significant research (people believed it was a disease that only happened to men), made contact with scientists and with a athlete who had some similarities.
posted by Nancy Lebovitz (12 comments total)

DIY medical research has become much more possible since Jill Viles and August Odone (Lorenzo's Oil) did their work scouring through physical journals and papers. However, it has also become more difficult due to the sheer volume of pre-published and open source published scientific papers. It is difficult to tell from summaries and extracts if the study underlying the papers were rigorous and thoughtful, or if they were just mining for P factors.

I'm impressed as can be that this woman accomplished so much with her commitment to finding the basis for her and her family's shared symptomology, and then reaching out to others to help them is amazing. I hope her contributions end up leading to some kind of genetic intervention for future members of her family and others.
posted by drossdragon at 10:16 AM on January 9, 2023 [5 favorites]

previously
posted by montag2k at 10:31 AM on January 9, 2023 [1 favorite]

What a clever and determined woman Jill is. I hope she continues to receive credit for her scholarship and intuition; I would like to see her able to continue to chase her questions and ask new ones in whatever capacity she is willing and able to do so. I am rather in awe of her ability to trust her own intuition and reasoning!

One of the things that bothers me about academia in general and, now that I'm over in NIH land, biomedical research in particular is that the cultural structure we use to train and produce scholars is really inaccessible and particularly inhospitable to disabled people. In many ways, the job is four jobs in a trench coat, and many disabled scholars I know find it hard to keep up with all of them at high speed. (Well. Me, too, really.) Particularly for people with chronic fatigue, chronic pain, or mobility issues, it can be very difficult to keep up with all the aspects of the job in a way that does not preclude generating meaningful bases of expertise and meaningful ability to contribute to fields of interest. And... when we systematically exclude the comments of disabled scholars from research in a given field, it hurts our collective understanding: there are certain concepts that are much, much more intuitive to people with particular experiences, like the importance of veins that aren't obscured by subcutaneous fat.

At the same time, it is certainly possible for people to very confidently attach themselves to ideas that are wholly inconsistent with the other observable data in a given field. Hell, that happens all the time to people with PhDs--consider the number of Nobel Laureates who wind up promoting bizarre quackery tangents--and it is of course more difficult for someone without formal training to keep up with people who have had the benefit of being paid to learn about complex topics. More difficult, however, doesn't mean "impossible," and there are certainly many disabled people of my acquaintance who amass quite considerable knowledge bases without formal degrees. It's pretty common among autistics, but of course that's not the only community where things like this pop up.

I am also kind of... I appreciate the desire to avoid patients worrying themselves into corners or misdiagnosing themselves with rare disorders, but at the same time I think that in some ways "don't self diagnose or even present possible conditions to evaluate; yield your understanding to the judgement of a trained professional" (which is our culturally hegemonic approach to diagnosis) does a massive disservice to many people--particularly to many disabled people. Especially when many disorders are not routinely or even ever screened for!

However, it has also become more difficult due to the sheer volume of pre-published and open source published scientific papers. It is difficult to tell from summaries and extracts if the study underlying the papers were rigorous and thoughtful, or if they were just mining for P factors.

I will say, as a scientist: that's why you read a lot, and not just summaries or extracts. You read commentaries, criticisms, methodological discussions, and you read the methods of the papers you're evaluating. You read meta-analyses, and you look at what they say. Eventually you get into the habit of ripping through papers for the data, for the methodological quirks, yanking out evidence for and against your basic intuitions as you go. It's not necessarily more difficult just because there's more evidence to sift through, at least not in my experience, and you do learn to recognize names and techniques that are... shall we say, unreliable, as you immerse yourself in a subject.
posted by sciatrix at 10:37 AM on January 9, 2023 [12 favorites]

One thing interacting with the health profession has taught me is that a. There is enormous variation in response to medicines b. When it comes to why certain drugs work or don't, docs often don't know, c. It's absolutely in your best interest to find a doctor who takes your experiences seriously and to walk away from one that doesn't.

Many of us are able to find meds and treatment that help, maybe after a few tries, but some are forced to go much farther for relief. Much as I love it when people actually find an answer, I wish we had the resources to make it easier/less on the shoulders of the patient.
posted by emjaybee at 10:51 AM on January 9, 2023

That was interesting. A parallel story "Kim Goodsell discovered that she had two extremely rare genetic diseases, she taught herself genetics to help find out why". Like Jill Viles, one of Kim's mutations is in a Lamin gene - there are three, in different parts of the genome. TIL that researching lay-ppl are sometimes called Superpatients.
posted by BobTheScientist at 11:58 AM on January 9, 2023

I think there is a valid point about the tsunami of published and pre-published papers. 1.7 million papers were indexed in Pubmed last year [up from 1.1 m in 2012] and no matter how efficient your scanometer and finely tuned your crap detector, you can't read them all. Most successful scientists deal with this by narrowing their field of interest: from all Toll-like receptors [humans have 10] to just TLR4_mouse and TLR4_human. Which means they don't get exposed to left-field data that might mean a big break-through from cross-fertilization. When I last worked in a university, I'd go to every departmental research seminar, but the Principal Investigators would only appear if one of their pals was the guest speaker - that's why Butterfly Bob never got tenure at Hogwarts.
posted by BobTheScientist at 12:26 PM on January 9, 2023

I’m currently reading How to Survive a Plague by David France, a journalistic/historical account of the role of community activism in early AIDS research. I highly recommend it to anyone who’s interested in the topic of citizen science or patient self-research. It’s seriously impressive what these activists accomplished, particularly when many of them were very sick. It’s also interesting to get a pre-COVID critical perspective on the major public health institutions in the U.S. and Fauci personally (the book came out in 2016). I get the sense that these citizen researchers could have shared so much wisdom with us all if only more of them had lived longer.
posted by Hex Wrench at 12:38 PM on January 9, 2023 [4 favorites]

What I got out of this was that doctors are, in general, authoritarian assholes who just won't fucking listen, and this woman had to spend literal decades of her life trying to get treatment. A personal triumph, perhaps, but a damning indictment of western medicine.
posted by seanmpuckett at 12:41 PM on January 9, 2023 [7 favorites]

What I have learned is that doctors are not genetics researchers, and they are not teachers. They are not going to spend hours figuring out what your variants do and then explaining it to you on a molecular level. You have to be capable of reading the scientific literature for yourself.
posted by Soliloquy at 2:38 PM on January 9, 2023 [1 favorite]

Or you can go to a genetic counselor. That’s their whole job. I’m uncertain how much they can help with such rare disorders, though.
posted by Comet Bug at 4:27 PM on January 9, 2023

IDK: genetics counselors are trained to help people interpret their genetic results and decide what to do about their own reproductive and medical futures given that information. They generally are not the people you go see when it comes to being diagnosed with a rare genetic disorder, or even the people who order specific genetic tests. That does tend to be doctors, and the cost of those genetics tests is often a bone of contention with insurance companies if the doctor can't justify reasons that the rare disorder needs checking for.
posted by sciatrix at 1:55 PM on January 10, 2023

My father was diagnosed with EDMD in his late sixties, a few years ago. The consulting physician was young and kind of hesitant to even propose such an exotic ailment for someone who's been having low-key health struggles his entire life (ie bonkers high cholesterol levels, which from TFA sounds like maybe a symptom of lipodystrophy?) when he was researching options for his fourth or fifth pacemaker. From what I understand from him it manifests on his Y chromosome, which means that I, also a bearer of a Y chromosome am not at risk, and neither are my two sisters. Among their five boys though, two have tested positive for EDMD too.

There's some sort of Facebook group for those living with the disease that he's active on. (As a semi-retired research scientist, I'm sure he's digested all the papers available on this.) And the nephews are being studied (one was in-womb when my father got his original diagnosis).
posted by St. Oops at 12:49 AM on January 11, 2023