The DIY Scientist, the Olympian, and the Mutated Gene
January 19, 2016 6:52 AM Subscribe
It seemed absolutely crazy. The idea that an Iowa housewife, equipped with the cutting-edge medical tool known as Google Images, would make a medical discovery about a pro athlete who sees doctors and athletic trainers as part of her job? via
Great story of perseverance in the face of medical obstinacy.
posted by jacquilynne at 7:19 AM on January 19, 2016 [15 favorites]
posted by jacquilynne at 7:19 AM on January 19, 2016 [15 favorites]
Boo on the dismissive use of "Iowa housewife". Otherwise a great article.
posted by jedicus at 7:32 AM on January 19, 2016 [18 favorites]
posted by jedicus at 7:32 AM on January 19, 2016 [18 favorites]
Sadly, this is the only post currently tagged "don't underestimate midwestern housewives."
posted by ChuraChura at 7:41 AM on January 19, 2016 [24 favorites]
posted by ChuraChura at 7:41 AM on January 19, 2016 [24 favorites]
Thanks to both the poster and the commenters who were so unanimous in their praise I actually started reading it (I usually skip long-form links, because who has the time?), and then of course I couldn't stop and sent the link to family members. And I hope my comment helps get others to do the same. An amazing read!
posted by languagehat at 7:44 AM on January 19, 2016 [8 favorites]
posted by languagehat at 7:44 AM on January 19, 2016 [8 favorites]
Great story of perseverance in the face of medical obstinacy.
To be fair, the vast majority of "amateur scientists" who put together packets of handwritten notes with wild theories are utter cranks. The amazing thing is that Viles is seems to have actually hit on something real. It's pretty amazing. I hope soem sort of therapy comes out of this....
posted by GenjiandProust at 7:46 AM on January 19, 2016 [8 favorites]
To be fair, the vast majority of "amateur scientists" who put together packets of handwritten notes with wild theories are utter cranks. The amazing thing is that Viles is seems to have actually hit on something real. It's pretty amazing. I hope soem sort of therapy comes out of this....
posted by GenjiandProust at 7:46 AM on January 19, 2016 [8 favorites]
That is a fascinating story. Thanks so much.
It really resonates with me. I spent about a year trying to figure out what was wrong with me, and even after I knew exactly what it was and had test results to prove it, finding someone that would listen to someone that isn't a doctor was difficult. I finally found the right doctor and got things taken care of. It was obscure enough that I had to give him my research before he agreed to treat me. He read it and I'm fine now. Thankfully it wasn't anything genetic and was fairly easy to treat.
Knowing something is very wrong with you and that nobody can figure out what is one hell of a motivator.
posted by bh at 7:48 AM on January 19, 2016 [5 favorites]
It really resonates with me. I spent about a year trying to figure out what was wrong with me, and even after I knew exactly what it was and had test results to prove it, finding someone that would listen to someone that isn't a doctor was difficult. I finally found the right doctor and got things taken care of. It was obscure enough that I had to give him my research before he agreed to treat me. He read it and I'm fine now. Thankfully it wasn't anything genetic and was fairly easy to treat.
Knowing something is very wrong with you and that nobody can figure out what is one hell of a motivator.
posted by bh at 7:48 AM on January 19, 2016 [5 favorites]
Incredible story. I love the part that references how her condition is similar to a great comic book superhero origin story. Jill may not have super strength and bulging muscles, but she has something even more admirable - smarts and determination. She really is a hero.
posted by pjsky at 7:51 AM on January 19, 2016 [1 favorite]
posted by pjsky at 7:51 AM on January 19, 2016 [1 favorite]
What an incredible person.
posted by showbiz_liz at 7:56 AM on January 19, 2016 [1 favorite]
posted by showbiz_liz at 7:56 AM on January 19, 2016 [1 favorite]
Unbelievable. She was a hero to her dad. She was a hero to Ms. Lopes-Schliep. She contributed to so much scientific progress.
Though I think we're giving too much credit to Google Images here, useful tool as it is.
Ms. Viles put in a lot of time, a lot of work into understanding her condition. Maybe she even worked at understanding her condition just as hard as Lopes-Schliep did to win.
Also kudos to all the people who worked with her - her family, Mr. Epstein, the researchers from Italy, Ms. Lopes-Schliep herself, her agent...
While science can indeed be DIY, I think Ms. Viles was the real deal.
Awesome and inspiring.
posted by bitteroldman at 7:57 AM on January 19, 2016 [16 favorites]
Though I think we're giving too much credit to Google Images here, useful tool as it is.
Ms. Viles put in a lot of time, a lot of work into understanding her condition. Maybe she even worked at understanding her condition just as hard as Lopes-Schliep did to win.
Also kudos to all the people who worked with her - her family, Mr. Epstein, the researchers from Italy, Ms. Lopes-Schliep herself, her agent...
While science can indeed be DIY, I think Ms. Viles was the real deal.
Awesome and inspiring.
posted by bitteroldman at 7:57 AM on January 19, 2016 [16 favorites]
Boo on the dismissive use of "Iowa housewife".
Agreed. I guess they figured "former research intern at Johns Hopkins" wasn't clickbaity enough. Fascinating article, though, regardless.
posted by dersins at 7:58 AM on January 19, 2016 [28 favorites]
Agreed. I guess they figured "former research intern at Johns Hopkins" wasn't clickbaity enough. Fascinating article, though, regardless.
posted by dersins at 7:58 AM on January 19, 2016 [28 favorites]
I love the part that references how her condition is similar to a great comic book superhero origin story
This reminds me ot the theory of Elijah Price, from Unbreakable.
posted by bitteroldman at 8:03 AM on January 19, 2016
This reminds me ot the theory of Elijah Price, from Unbreakable.
posted by bitteroldman at 8:03 AM on January 19, 2016
Agreed. I guess they figured "former research intern at Johns Hopkins" wasn't clickbaity enough
Iowa housewife former research intern at Johns Hopkins discovers this one trick large packet of information that doctors don't want you to know points towards a better understanding of rare diseases doesn't roll off the image, either.
posted by GenjiandProust at 8:05 AM on January 19, 2016 [15 favorites]
posted by GenjiandProust at 8:05 AM on January 19, 2016 [15 favorites]
His book The Sports Gene, despite its title, is an excellent exploration of how complex, multiple genes can interact with personal and social environments. I read it in part because our youngest son is a muscle machine—we joke that he was born with a six-pack, and that's not much of an exaggeration. Now he's a competitive gymnast, age 8, and it's striking how much more muscular he is than even other very good gymnasts his age. A lot of the boys, despite their long hours of practice and excellent gymnastics skills, still have a softness to their limbs and abdomen that he just doesn't have. It's so striking that I have asked his doctors more than once if there was anything to be concerned about, and been reassured that there is not.
Anyway, the book is very much worth a read, though for the rest of your life whenever you see an article about how "Gene That Controls Obesity Has Been Discovered!" or whatever, you will feel flames, flames from the side of your face.
I'm really impressed with Viles. Such tenacity, curiosity, and trust in herself.
posted by not that girl at 8:07 AM on January 19, 2016 [11 favorites]
Anyway, the book is very much worth a read, though for the rest of your life whenever you see an article about how "Gene That Controls Obesity Has Been Discovered!" or whatever, you will feel flames, flames from the side of your face.
I'm really impressed with Viles. Such tenacity, curiosity, and trust in herself.
posted by not that girl at 8:07 AM on January 19, 2016 [11 favorites]
Damn interesting.
posted by brokkr at 8:11 AM on January 19, 2016 [9 favorites]
jacquilynne: "Great story of perseverance in the face of medical obstinacy."Given that she has a combination of diseases both with a prevalence around 1:1,000,000 it's not unreasonable to say "you don't have that" – you'll never read a longform story of all the times people show up with the wrong self-diagnosis at the doctor's.
posted by brokkr at 8:11 AM on January 19, 2016 [9 favorites]
Yes, I despise both the housewife and Google Images framing. In her college research and in her internship, she got an amazing amount of education. It was narrowly focused, but it was real. It wasn't that long ago that auto-didacts were common. She should be congratulated for her learning, not just her persistence.
posted by CheeseDigestsAll at 8:11 AM on January 19, 2016 [30 favorites]
posted by CheeseDigestsAll at 8:11 AM on January 19, 2016 [30 favorites]
Citizen science for the motherfucking win.
posted by rmd1023 at 8:16 AM on January 19, 2016 [6 favorites]
posted by rmd1023 at 8:16 AM on January 19, 2016 [6 favorites]
The detail that really stands out for me is that the Italian research team asked for blood, so she had a friend who was a nurse smuggle out some needles and test tubes to gather blood and then mail it to Italy. That's perseverance, and she has had a huge impact on her family and another person's life for that.
Given that she has a combination of diseases both with a prevalence around 1:1,000,000 it's not unreasonable to say "you don't have that" – you'll never read a longform story of all the times people show up with the wrong self-diagnosis at the doctor's.
Well, that and the fact that the "wrong" self-diagnosis may have something to it if doctors didn't immediately dismiss self-diagnosis on the spot. I mean, sure, she had a hugely rare disease...two of them, in fact, but she was RIGHT about it, even though doctors (many of them) said, "Nope, that's not it." Maybe if more doctors really listened to what their patients were saying and why they were saying it, with all the reasons they believe they have what they've self-diagnosed, more of these types of cases would be found.
Then again, it's just easier to dismiss them as cranks and continue on, I guess.
posted by xingcat at 8:21 AM on January 19, 2016 [7 favorites]
Given that she has a combination of diseases both with a prevalence around 1:1,000,000 it's not unreasonable to say "you don't have that" – you'll never read a longform story of all the times people show up with the wrong self-diagnosis at the doctor's.
Well, that and the fact that the "wrong" self-diagnosis may have something to it if doctors didn't immediately dismiss self-diagnosis on the spot. I mean, sure, she had a hugely rare disease...two of them, in fact, but she was RIGHT about it, even though doctors (many of them) said, "Nope, that's not it." Maybe if more doctors really listened to what their patients were saying and why they were saying it, with all the reasons they believe they have what they've self-diagnosed, more of these types of cases would be found.
Then again, it's just easier to dismiss them as cranks and continue on, I guess.
posted by xingcat at 8:21 AM on January 19, 2016 [7 favorites]
I'm sad about the part where her mom is like "ugh i wish she'd get on with her life already" as though what she's done so far wasn't incredibly fucking valuable and completely amazing.
posted by poffin boffin at 8:24 AM on January 19, 2016 [17 favorites]
posted by poffin boffin at 8:24 AM on January 19, 2016 [17 favorites]
my god i love propublica
posted by poffin boffin at 8:24 AM on January 19, 2016 [4 favorites]
posted by poffin boffin at 8:24 AM on January 19, 2016 [4 favorites]
What an amazing person. While I understand the dangers of self-diagnosis, especially via internet, and it's hard to necessarily fault all the doctors in question, it's hard not to also think about women's pain/medical issues being taken less seriously.
posted by sonmi at 8:28 AM on January 19, 2016 [10 favorites]
posted by sonmi at 8:28 AM on January 19, 2016 [10 favorites]
Given that she has a combination of diseases both with a prevalence around 1:1,000,000 it's not unreasonable to say "you don't have that" – you'll never read a longform story of all the times people show up with the wrong self-diagnosis at the doctor's.
I don't like this approach, though. No, you won't ever read that as a story like this. It's not heart-warming. But if you claim something is one in a million and that's why you won't test anybody to see if they have it, it seems like there are two problems with that: One, about 319 people in the United States will, on average, have anything that only one person in a million gets. And two, if you refuse to test anybody, then of course it's going to look like nobody has it. "This is really rare" should never be a reason not to test. Now, the "we're completely sure this is sex-linked and you have the wrong chromosomes", that part I don't think is really unreasonable, but we aren't really presented with a good picture of why they thought only men got it. "Your symptoms don't match this thing" is a good reason not to test. "Your symptoms sort of match but these other things suggest that's not a brain tumor, it's a sinus infection," sure. "Almost nobody ever gets brain tumors" is a really bad reason not to consider the possibility.
I mean, the obvious comparison here is Morgellons. But the thing about Morgellons is that people are very socially motivated to find a reason for their problems that isn't psychiatric. The "delusional" bit that people apply only makes it worse. There's so much judgment about it. There's nearly as much judgment for admitting that you have a body-focused repetitive behavior disorder. Nobody wants to have that. So if you focus all your attention on trying to find something else it can be, you're going to end up way off in left field. But if you don't know what your problem is, and you find some information, and you present it to your doctor as a maybe, it seems like your doctor should either do the test... or present you with a serious alternative explanation.
posted by Sequence at 8:37 AM on January 19, 2016 [12 favorites]
I don't like this approach, though. No, you won't ever read that as a story like this. It's not heart-warming. But if you claim something is one in a million and that's why you won't test anybody to see if they have it, it seems like there are two problems with that: One, about 319 people in the United States will, on average, have anything that only one person in a million gets. And two, if you refuse to test anybody, then of course it's going to look like nobody has it. "This is really rare" should never be a reason not to test. Now, the "we're completely sure this is sex-linked and you have the wrong chromosomes", that part I don't think is really unreasonable, but we aren't really presented with a good picture of why they thought only men got it. "Your symptoms don't match this thing" is a good reason not to test. "Your symptoms sort of match but these other things suggest that's not a brain tumor, it's a sinus infection," sure. "Almost nobody ever gets brain tumors" is a really bad reason not to consider the possibility.
I mean, the obvious comparison here is Morgellons. But the thing about Morgellons is that people are very socially motivated to find a reason for their problems that isn't psychiatric. The "delusional" bit that people apply only makes it worse. There's so much judgment about it. There's nearly as much judgment for admitting that you have a body-focused repetitive behavior disorder. Nobody wants to have that. So if you focus all your attention on trying to find something else it can be, you're going to end up way off in left field. But if you don't know what your problem is, and you find some information, and you present it to your doctor as a maybe, it seems like your doctor should either do the test... or present you with a serious alternative explanation.
posted by Sequence at 8:37 AM on January 19, 2016 [12 favorites]
Then again, it's just easier to dismiss them as cranks and continue on, I guess.
Given that healthcare and the attention of healthcare providers is essentially rationed in the US, and doctors and nurses are in a constant sleep-deprived haze delivering sub-optimal care, I would imagine that throwing self-diagnoses out with little consideration saves far more lives than it hurts when attention can go to more clearly presenting issues. It's not a good thing that we don't have enough primary care docs and our residents seeing patients in the ER are burned out and that doctors often have a sort of haughty arrogance that is bolstered by the fact that they are in shit-tons of debt and have to feel superior about something to justify all of the sacrifices they have to make compared to a "normal" 9-5-ish life.
Every so often something like this happens and suggests medical practitioners should exhibit more humility and second-guessing of themselves, and I get it. But, this sort of dysfunction is built into the system because of greater dysfunctions.
posted by aydeejones at 8:39 AM on January 19, 2016 [8 favorites]
Given that healthcare and the attention of healthcare providers is essentially rationed in the US, and doctors and nurses are in a constant sleep-deprived haze delivering sub-optimal care, I would imagine that throwing self-diagnoses out with little consideration saves far more lives than it hurts when attention can go to more clearly presenting issues. It's not a good thing that we don't have enough primary care docs and our residents seeing patients in the ER are burned out and that doctors often have a sort of haughty arrogance that is bolstered by the fact that they are in shit-tons of debt and have to feel superior about something to justify all of the sacrifices they have to make compared to a "normal" 9-5-ish life.
Every so often something like this happens and suggests medical practitioners should exhibit more humility and second-guessing of themselves, and I get it. But, this sort of dysfunction is built into the system because of greater dysfunctions.
posted by aydeejones at 8:39 AM on January 19, 2016 [8 favorites]
Definitely agree with everything Sequence said, there aren't enough resources allocated in this country to getting to the bottom of complex issues, and healthcare is a glaringly obvious place where we've really doubled-down on America-refined, assumption-heavy heuristic "efficiency."
I think choosing to be a doctor in the US is such a loaded proposition (whether it's debt and fighting to the death to have a job that beats you up, or being privileged enough to walk into a job that beats you up and then finding that it does in fact beat you up) that there tends to be a lot of professionalized, institutionalized arrogance. They end up over-worked, under-slept, and in tons of debt, and find themselves applying heuristics like "this is just rare, yo" because there are so many "certain" things that have to be done in the course of the day. It's like when you're an IT person and the entire network is down and someone is trying to get you to help them with their very pressing issue which seems insignificant to you in the heat of the moment, and they absolutely deserve your attention, but you're conditioned to be in siege-mode and are just looking for things to toss aside.
posted by aydeejones at 8:45 AM on January 19, 2016 [1 favorite]
I think choosing to be a doctor in the US is such a loaded proposition (whether it's debt and fighting to the death to have a job that beats you up, or being privileged enough to walk into a job that beats you up and then finding that it does in fact beat you up) that there tends to be a lot of professionalized, institutionalized arrogance. They end up over-worked, under-slept, and in tons of debt, and find themselves applying heuristics like "this is just rare, yo" because there are so many "certain" things that have to be done in the course of the day. It's like when you're an IT person and the entire network is down and someone is trying to get you to help them with their very pressing issue which seems insignificant to you in the heat of the moment, and they absolutely deserve your attention, but you're conditioned to be in siege-mode and are just looking for things to toss aside.
posted by aydeejones at 8:45 AM on January 19, 2016 [1 favorite]
The odds of separately getting both by chance alone? It was one in far more than the number of people who have lived on Earth, ever.
My health care providers will not be making a correct diagnosis of anything similar to this any time soon.
posted by bukvich at 9:09 AM on January 19, 2016
My health care providers will not be making a correct diagnosis of anything similar to this any time soon.
posted by bukvich at 9:09 AM on January 19, 2016
What a great story!
posted by gingerbeer at 9:13 AM on January 19, 2016
posted by gingerbeer at 9:13 AM on January 19, 2016
Really worth reading.
posted by lilies.lilies at 9:19 AM on January 19, 2016
posted by lilies.lilies at 9:19 AM on January 19, 2016
This is a great and sad story. One picture of her should have been worth dozens of pages, and thousands of words. Her perseverance and outrageous optimism are wondrous.
posted by Oyéah at 9:24 AM on January 19, 2016
posted by Oyéah at 9:24 AM on January 19, 2016
This woman should be given some grants from the NIH to read up on whatever random thing strikes her curiosity. This is a seriously impressive scientific mind at work.
posted by clawsoon at 9:33 AM on January 19, 2016 [29 favorites]
posted by clawsoon at 9:33 AM on January 19, 2016 [29 favorites]
Seriously... how many postdocs would kill to have multiple research ideas that were as brilliantly borne out as hers were?
posted by clawsoon at 9:34 AM on January 19, 2016 [5 favorites]
posted by clawsoon at 9:34 AM on January 19, 2016 [5 favorites]
My kid has a mild, and not particularly rare, muscular and joint disorder, but I had still never heard of it until his doctor noticed at age 2 that he could not jump. Turns out he had mild hypotonia and also hyperflexible joints.
But as soon as I researched those things, I realized that it probably came from me, because I had some of the same symptoms and had my whole life. In my family full of athletes, I had been the non-athlete and now I realize it was at least partly because I tended to run more slowly, fall more easily and hurt myself. Something I felt shame for and was often shamed for (not by my family thankfully, but then, being a girl probably helped me there).
How many "clumsy" kids are out there like us, completely under the radar, frustrated with their own slowness or just avoiding certain activities because they always lose? It's not life-threatening, but on the other hand, if we were aware of and studied the mild cases, what could we learn about the severe ones, and similar problems caused by other diseases?
posted by emjaybee at 9:40 AM on January 19, 2016 [22 favorites]
But as soon as I researched those things, I realized that it probably came from me, because I had some of the same symptoms and had my whole life. In my family full of athletes, I had been the non-athlete and now I realize it was at least partly because I tended to run more slowly, fall more easily and hurt myself. Something I felt shame for and was often shamed for (not by my family thankfully, but then, being a girl probably helped me there).
How many "clumsy" kids are out there like us, completely under the radar, frustrated with their own slowness or just avoiding certain activities because they always lose? It's not life-threatening, but on the other hand, if we were aware of and studied the mild cases, what could we learn about the severe ones, and similar problems caused by other diseases?
posted by emjaybee at 9:40 AM on January 19, 2016 [22 favorites]
Reminds me of this story, previously on Metafilter: DIY Diagnosis: How an Extreme Athlete Uncovered Her Genetic Flaw.
posted by ZeusHumms at 9:44 AM on January 19, 2016 [1 favorite]
posted by ZeusHumms at 9:44 AM on January 19, 2016 [1 favorite]
Thanks so much for this post - it was a fascinating read. My son has a rare (1 in 70,000 births) autosomal recessive genetic disorder diagnosed via newborn screening blood spot, and we were so fortunate to have it identified early enough to start medical treatment and diet (even though the diagnosis was heartbreaking and traumatic). I can only imagine the heartbreak involved if we had to struggle to find a diagnosis.
Standard protocol for "official" diagnosis in 2013 was to send blood samples to Baylor University in Texas for DNA sequencing, but I never dug into the genetics beyond telling our siblings which genes to have sequenced before they had kids. I selfishly wish this woman had the same genetic disorder as my son's so that we could benefit from her efforts! Though the pace of genetic research right now is so fast that I find myself wondering if there really will be a cure before my son hits adulthood (a possibility which the author seems to share).
posted by Maarika at 9:46 AM on January 19, 2016 [2 favorites]
Standard protocol for "official" diagnosis in 2013 was to send blood samples to Baylor University in Texas for DNA sequencing, but I never dug into the genetics beyond telling our siblings which genes to have sequenced before they had kids. I selfishly wish this woman had the same genetic disorder as my son's so that we could benefit from her efforts! Though the pace of genetic research right now is so fast that I find myself wondering if there really will be a cure before my son hits adulthood (a possibility which the author seems to share).
posted by Maarika at 9:46 AM on January 19, 2016 [2 favorites]
Thanks so much for posting this, ChuraChura— not only is it an amazing story, it is also an example of scientific journalism done extremely right. I love how elegantly it weaves so many strands together— it contains the details and a certain amount of genetic info, but it also translates all that into layman’s terms, offers photographic examples, multiple family anecdotes (from different families), discussions about what kinds of research pay off, discussions about the kind of contact academicians have (or don’t have) with people from outside the field who have decades of experience living with the conditions being studied— just an amazing read.
(I temporarily wish I was still teaching writing, because my special area was “making college students in STEM realize communication matters”, and this is a shining jewel of an example of how theory meets lived reality meets making research into a tool that makes the world better... and also helps scientists get published.)
Oh, and continuous gender studies subplot! Both these women spent SO MUCH TIME being told that they were wrong about their bodies, and in Priscilla’s case being called a liar and a cheater, and yet neither one of them ever got gaslighted into doubting themselves. Amazing. Heroes.
posted by a fiendish thingy at 10:05 AM on January 19, 2016 [38 favorites]
(I temporarily wish I was still teaching writing, because my special area was “making college students in STEM realize communication matters”, and this is a shining jewel of an example of how theory meets lived reality meets making research into a tool that makes the world better... and also helps scientists get published.)
Oh, and continuous gender studies subplot! Both these women spent SO MUCH TIME being told that they were wrong about their bodies, and in Priscilla’s case being called a liar and a cheater, and yet neither one of them ever got gaslighted into doubting themselves. Amazing. Heroes.
posted by a fiendish thingy at 10:05 AM on January 19, 2016 [38 favorites]
Wow, that was interesting. Thanks for posting!
posted by ThatCanadianGirl at 10:37 AM on January 19, 2016
posted by ThatCanadianGirl at 10:37 AM on January 19, 2016
Sequence writes:
See also False positive paradox or car alarms and smoke alarms. In any health care system, there's going to be a real resource allocation problem here, because the more testing you do, the more resources will then need to be devoted to eliminating false positives, not only to treating true positives.
posted by clauclauclaudia at 10:48 AM on January 19, 2016 [4 favorites]
"This is really rare" should never be a reason not to test.Absolutely true. However, it often has a corollary that the false positives far outweigh the true positives. AFAIK, this is seldom true with genetic testing, but that may just be because IK very little.
See also False positive paradox or car alarms and smoke alarms. In any health care system, there's going to be a real resource allocation problem here, because the more testing you do, the more resources will then need to be devoted to eliminating false positives, not only to treating true positives.
posted by clauclauclaudia at 10:48 AM on January 19, 2016 [4 favorites]
"This is really rare" should never be a reason not to test.
Don't forget the timing of this. At the start of this story, genetic testing was really just barely possible and took literally years to do. It's a big ask to tie up a top-rank research lab with a potentially risky project for a few years, especially when the researcher intuits a null result and there's no funding involved.
Finding the Italian group with an existing project was a stroke of luck, and so a testament to Viles' persistence and effort. I'm a firm believer that luck is an opportunity that you're prepared for. This wouldn't have happened had she not done her homework.
posted by bonehead at 11:22 AM on January 19, 2016 [5 favorites]
Don't forget the timing of this. At the start of this story, genetic testing was really just barely possible and took literally years to do. It's a big ask to tie up a top-rank research lab with a potentially risky project for a few years, especially when the researcher intuits a null result and there's no funding involved.
Finding the Italian group with an existing project was a stroke of luck, and so a testament to Viles' persistence and effort. I'm a firm believer that luck is an opportunity that you're prepared for. This wouldn't have happened had she not done her homework.
posted by bonehead at 11:22 AM on January 19, 2016 [5 favorites]
And two, if you refuse to test anybody, then of course it's going to look like nobody has it.
There's a difference between refusing to do controlled research and refusing to test individual patients.
"This is really rare" should never be a reason not to test.
Except that tests aren't perfect, perfectly safe, free, or instantaneous. In addition to false positives, there are also issues of cost (both in money and the doctor's finite time not being spent on work that is more likely to be beneficial) and side effects, such as increased cancer risk from radiation-based imaging.
posted by jedicus at 11:22 AM on January 19, 2016 [7 favorites]
There's a difference between refusing to do controlled research and refusing to test individual patients.
"This is really rare" should never be a reason not to test.
Except that tests aren't perfect, perfectly safe, free, or instantaneous. In addition to false positives, there are also issues of cost (both in money and the doctor's finite time not being spent on work that is more likely to be beneficial) and side effects, such as increased cancer risk from radiation-based imaging.
posted by jedicus at 11:22 AM on January 19, 2016 [7 favorites]
> This reminds me of the theory of Elijah Price, from Unbreakable.
You're not the only one. The radio version of the story in This American Life makes the connection and has an excerpt from that movie, of Samuel L. Jackson's character spelling out his theory.
posted by Sunburnt at 11:35 AM on January 19, 2016
You're not the only one. The radio version of the story in This American Life makes the connection and has an excerpt from that movie, of Samuel L. Jackson's character spelling out his theory.
posted by Sunburnt at 11:35 AM on January 19, 2016
I don't like this approach, though. No, you won't ever read that as a story like this. It's not heart-warming. But if you claim something is one in a million and that's why you won't test anybody to see if they have it, it seems like there are two problems with that
If you listen to the TAL story about this, you'd realize that, at the time, the genetic testing took FOUR YEARS. How many 1:1,000,000 diseases are you going check for if there is a four year timeframe for results?
Testing is much quicker now, but there are still of lot of reasons why we don't just genetically test for every disease for everybody.
posted by sideshow at 11:37 AM on January 19, 2016 [2 favorites]
If you listen to the TAL story about this, you'd realize that, at the time, the genetic testing took FOUR YEARS. How many 1:1,000,000 diseases are you going check for if there is a four year timeframe for results?
Testing is much quicker now, but there are still of lot of reasons why we don't just genetically test for every disease for everybody.
posted by sideshow at 11:37 AM on January 19, 2016 [2 favorites]
The written version of the story linked in the OP also alludes to Unbreakable.
posted by clauclauclaudia at 1:02 PM on January 19, 2016 [1 favorite]
posted by clauclauclaudia at 1:02 PM on January 19, 2016 [1 favorite]
The next time I get subpar medical care because of my gender, I'mma ask myself, "What would Jill Viles do?"
posted by Ruki at 1:53 PM on January 19, 2016 [3 favorites]
posted by Ruki at 1:53 PM on January 19, 2016 [3 favorites]
I wish the story gave a little more information on her academic background. She isn't a research scientist or a doctor and has done a great deal of scientific reasoning and research on her own which is so impressive, but we also know that she's taught writing at the community college level and had an internship at Johns Hopkins. For all the framing of her as just a mom in Iowa, she was probably a standout undergraduate student, right? Doesn't the community college teaching also suggest she may have a graduate degree?
posted by Area Man at 2:17 PM on January 19, 2016 [4 favorites]
posted by Area Man at 2:17 PM on January 19, 2016 [4 favorites]
I think the framing of the story was to make it more a feel-good story. Which it should be, because the story is great. But when it comes down to it, her motivation and dedication are far more important than a piece of paper she earned.
posted by bh at 2:45 PM on January 19, 2016 [1 favorite]
posted by bh at 2:45 PM on January 19, 2016 [1 favorite]
She was a college prof, a lab researcher at John Hopkins, and university educated. Why does this article repeatedly call her a "housewife" and "mother"?
On preview, I should have previewed!
posted by saucysault at 3:51 PM on January 19, 2016
On preview, I should have previewed!
posted by saucysault at 3:51 PM on January 19, 2016
This is a great story, and hits home for me in a pretty personal way. Thanks for linking it.
posted by LobsterMitten at 4:03 PM on January 19, 2016
posted by LobsterMitten at 4:03 PM on January 19, 2016
Yea, this article had an incredibly frustrating tone, right to the last note of asking the French researcher if it was common for him to be contacted from "outside the science community" - no, and it still hasn't happened!
Also, I was pretty stunned that an athlete isn't getting triglycerides checked ever - isn't that one of the really basic blood tests?
posted by the agents of KAOS at 4:13 PM on January 19, 2016 [1 favorite]
Also, I was pretty stunned that an athlete isn't getting triglycerides checked ever - isn't that one of the really basic blood tests?
posted by the agents of KAOS at 4:13 PM on January 19, 2016 [1 favorite]
The unnecessary "housewife" and "anecdata" framing of this just drives me up the wall.
So many people are searching for solutions to their ailments and (through no fault of their own) falling into the traps of snake oil merchants and dodgy journals publishing their "literature"; these people intuit that one anecdote from a friend of a friend of a relative is as useful as a controlled, large scale study, and they don't know how to review evidence through a critical lens.
Stories like this one are unusual: the person doing the research isn't a layperson; she knows how to critically evaluate both the content and source of scientific literature, and she also perseveres in convincing the medical establishment of the validity of her concerns, without sidetracking to crackpot alternative theories and medicines. To couch this in terms of her being some uneducated (unless you read carefully for the two references to her schooling </sarcasm>) housewife does Viles a disservice, and also does a disservice to all the laypeople out there searching for answers, who don't even know that they don't know how to critically evaluate literature.
posted by snap, crackle and pop at 5:08 PM on January 19, 2016 [12 favorites]
So many people are searching for solutions to their ailments and (through no fault of their own) falling into the traps of snake oil merchants and dodgy journals publishing their "literature"; these people intuit that one anecdote from a friend of a friend of a relative is as useful as a controlled, large scale study, and they don't know how to review evidence through a critical lens.
Stories like this one are unusual: the person doing the research isn't a layperson; she knows how to critically evaluate both the content and source of scientific literature, and she also perseveres in convincing the medical establishment of the validity of her concerns, without sidetracking to crackpot alternative theories and medicines. To couch this in terms of her being some uneducated (unless you read carefully for the two references to her schooling </sarcasm>) housewife does Viles a disservice, and also does a disservice to all the laypeople out there searching for answers, who don't even know that they don't know how to critically evaluate literature.
posted by snap, crackle and pop at 5:08 PM on January 19, 2016 [12 favorites]
I have a cluster of rare cancers (1:800k for someone my age at diagnosis for the rarest). While we knew about symptoms dating back two decades for one of them, the drug suppression made it not worth exploring further. The second showing up was distinctive and diagnosed within a few months. The third I had to diagnose myself (via a lot of medical library and Pubmed digging and early Dr Google) and demand the testing because no one would believe someone my age could have it. I had typical symptoms and alarming imaging and labwork; I had so many metastases they were "uncountable" according to several radiologists.
Then the really fun part began; trying to figure out, and get medical expertise to corroborate, *why* I had three rare neuroendocrine cancers simultaneously. All three respond to the same expensive and unusual symptom suppressing medication. Umm, maybe they're connected somehow? How would we find out? Would it make a difference in my future treatment? What about predicting any new cancers, or at least clues of how and where to look for them?
I've been told I should be grateful for the minimal treatment I can demand and self-advocate for (I've talked about it at length here). But here's this cancer cluster that has a combined incidence of about 1:80 trillion. That's not a typo. And two members of my grandmother's generation probably died of at least two out of three - liver cancer, parathyroid cancer and carcinoid, and pancreatic cancer and carcinoid for the other. Hmm, familial, do you think? I want to spare my other relatives even part of what I've gone through. Even my estranged nuclear family.
But, limited medical research resources. No one wants to die of pancreatic or liver cancer, and if the details of my and my family's propensity towards them can help others survive, that's my hope.
posted by Dreidl at 9:13 PM on January 19, 2016 [4 favorites]
Then the really fun part began; trying to figure out, and get medical expertise to corroborate, *why* I had three rare neuroendocrine cancers simultaneously. All three respond to the same expensive and unusual symptom suppressing medication. Umm, maybe they're connected somehow? How would we find out? Would it make a difference in my future treatment? What about predicting any new cancers, or at least clues of how and where to look for them?
I've been told I should be grateful for the minimal treatment I can demand and self-advocate for (I've talked about it at length here). But here's this cancer cluster that has a combined incidence of about 1:80 trillion. That's not a typo. And two members of my grandmother's generation probably died of at least two out of three - liver cancer, parathyroid cancer and carcinoid, and pancreatic cancer and carcinoid for the other. Hmm, familial, do you think? I want to spare my other relatives even part of what I've gone through. Even my estranged nuclear family.
But, limited medical research resources. No one wants to die of pancreatic or liver cancer, and if the details of my and my family's propensity towards them can help others survive, that's my hope.
posted by Dreidl at 9:13 PM on January 19, 2016 [4 favorites]
This piece deeply resonated with me, as someone with an extremely rare genetic illness (about ten families worldwide are known to have the mutation I have). You kind of inevitably become an expert on your own illness.
posted by Ivan Fyodorovich at 9:47 PM on January 19, 2016
posted by Ivan Fyodorovich at 9:47 PM on January 19, 2016
If this was really only two years ago, then it's not ground-breaking research, she just hadn't found the right person. The link between her two conditions was described over 15 years ago. It's not possible for every doctor to know about every condition, which is why we have specialists, and sub-specialists, and so on. How can we best connect patients with rare diseases to experts in their condition?
posted by superfish at 10:58 PM on January 19, 2016
posted by superfish at 10:58 PM on January 19, 2016
How can we best connect patients with rare diseases to experts in their condition?
-superfish
By the patients having enough personal wealth to find the experts, and then have an appointment with the expert, and then be able to pay for the expertly suggested diagnostics and treatments.
The two consults I was able to track down, one across the country, the other in an adjacent state, were not covered by my insurance. Which meant I had to convince my local doctors to order the suggested tests, but the tests weren't approved by my insurance, so... I had insufficient imaging, more metastases and no effective medications for years. We know I have a gastrinoma somewhere, and we've never gotten insurance to cover the imaging to find the primary of the other systemic cancer. And of course, no genotyping of me, my tumors, or my relatives to see if we share similar anomalies. Maybe I have a random developmental mutation, or maybe my cancers are familial. I have similar progenitor cancers on both sides of my family bcse my parents are (distant) cousins.
All it takes to connect patients and experts is time and $$$$. All it takes to treat the patients is $$$$ and time for reasearch, hopefully in time to treat the live patient.
posted by Dreidl at 11:56 PM on January 19, 2016 [3 favorites]
-superfish
By the patients having enough personal wealth to find the experts, and then have an appointment with the expert, and then be able to pay for the expertly suggested diagnostics and treatments.
The two consults I was able to track down, one across the country, the other in an adjacent state, were not covered by my insurance. Which meant I had to convince my local doctors to order the suggested tests, but the tests weren't approved by my insurance, so... I had insufficient imaging, more metastases and no effective medications for years. We know I have a gastrinoma somewhere, and we've never gotten insurance to cover the imaging to find the primary of the other systemic cancer. And of course, no genotyping of me, my tumors, or my relatives to see if we share similar anomalies. Maybe I have a random developmental mutation, or maybe my cancers are familial. I have similar progenitor cancers on both sides of my family bcse my parents are (distant) cousins.
All it takes to connect patients and experts is time and $$$$. All it takes to treat the patients is $$$$ and time for reasearch, hopefully in time to treat the live patient.
posted by Dreidl at 11:56 PM on January 19, 2016 [3 favorites]
superfish: "The link between her two conditions was described over 15 years ago."I can only imagine the facepalm you're going to give yourself when you actually read about the first PubMed article you linked to in TFA:
Soon after she got her genetic results from Italy, the research group published a paper in the journal Nature Genetics showing that a mutation on the lamin gene can cause Emery-Dreifuss. They thanked Jill at the bottom of the paper. (Her last name at the time was Dopf.)But hey, why read the article when you can just drop by this thread and dismiss her.
posted by brokkr at 2:01 AM on January 20, 2016 [4 favorites]
I did read the article. I was just struck by the publication dates on those two articles (11 months apart). For her doctors to know that her lamin mutation could cause muscular dystrophy, but not to know that it could cause lipodystrophy, she either a) asked the question some time in those 11 months (before the lipodystrophy work was published), or b) asked the wrong person, who wasn't aware of the link.
I'm not dismissing her at all - I think she's incredibly open-minded to even consider that Priscilla might have the same thing. And all credit to her for pursuing her Emery-Dreifuss diagnosis in the first place. To me, those are the most amazing parts of the article. I wish both things had been easier for her.
posted by superfish at 3:06 AM on January 20, 2016
I'm not dismissing her at all - I think she's incredibly open-minded to even consider that Priscilla might have the same thing. And all credit to her for pursuing her Emery-Dreifuss diagnosis in the first place. To me, those are the most amazing parts of the article. I wish both things had been easier for her.
posted by superfish at 3:06 AM on January 20, 2016
Here is an article Jill Viles herself wrote in 2000. I like reading her own account of part of her story.
This portion provides a little more insight into her background: "As I completed my first year of college at Drake University, my introductory genetics professor arranged an internship with Dr. Thomas Horiagon at the Human Gene Therapy Research Institute in Des Moines, Iowa. Through my studies there, the once baffling world of DNA came to life as I found myself able to follow the articles in medical journals. Armed with my new vocabulary, I transferred to Iowa State University to pursue a degree in genetics and searched the Internet for clues."
Some other googling indicates she later got an MA in English from Iowa State.
posted by Area Man at 6:22 AM on January 20, 2016 [7 favorites]
This portion provides a little more insight into her background: "As I completed my first year of college at Drake University, my introductory genetics professor arranged an internship with Dr. Thomas Horiagon at the Human Gene Therapy Research Institute in Des Moines, Iowa. Through my studies there, the once baffling world of DNA came to life as I found myself able to follow the articles in medical journals. Armed with my new vocabulary, I transferred to Iowa State University to pursue a degree in genetics and searched the Internet for clues."
Some other googling indicates she later got an MA in English from Iowa State.
posted by Area Man at 6:22 AM on January 20, 2016 [7 favorites]
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posted by emjaybee at 7:13 AM on January 19, 2016 [2 favorites]