I was blown away by this article and automatically subscribed. I'm a therapist and constantly surprised by human resourcefulness. Jill's spirit is deeply inspiring to me and gives me hope about the human race. As does your coverage.
I so hope there will be a cure in her lifetime, or at least as much relief as possible.
Hi Robyn, thanks so much for the kind words. I feel the same way about Jill;) I obviously don't know whether there will be a cure in her lifetime, but there has been some progress, and I think her contributions to medical research (after this story, a company sequenced the entire genomes of her family, and figured out why some members were afflicted much more than others) will certainly help others. I appreciate you reading, and glad Jill had the same effect on you that she did on me;)
So I read your book , The Sports Gene when it first came out and had forgotten about Jill’s story until I stumble fumbled my way to this post . Can’t wait to see what has given the story new
I remembered this story from when it first came out and hope that both the main characters and their families are doing well now. So I shared it with my advanced-reporting students to read for this week. But it raises a question for my other class, which is on media coverage of women's sports: Jill mentions being accused of intern syndrome and discounted at various points because she wasn't a "real" scientists. I wonder, though: could gender have anything to do with people not paying attention to her and/or Priscilla being accused of steroid use? Nobody would blink twice at a male hurdler showing up with that physique, and probably would be much more freaked out by a man with the dystrophy Jill displays. I got the impression that there was some sex linkage in these two chromosomal abnormalities, but I wonder if these women were blown off/viewed with suspicion because they were women. Any thoughts?
Hey Welch! Nice to hear from you. Of course, I don't have a definitive answer, but I think there's a long history of medical issues specific to women either being written off, recast as some form of hysteria, or even acknowledged but simply not studied. (And sometimes even when they are studied, male subjects are used. An unusual example I remember reading about: https://medicine.yale.edu/news-article/a-drug-for-women-tested-on-men/) The book "Invisible Women" is an interesting dive into women being understudied generally. As far as nobody accusing a male sprinter of steroid use, I think Priscilla's physique is clearly more rare for a female sprinter than it would be for a male sprinter, so certainly that propels the accusations. I think an interesting question is whether a male athlete who is similarly outlying in terms of muscle mass would generate the same level of accusations. My guess: there would be accusations, but not to the same degree.
That story introduced me to your writing and I’ve been a fan and reader ever since. So many people sent me the story as an example of what I study and write about: the patient-led revolution in health care. It was fun to see it go whizzing around the internet again!
Susannah! I distinctly remember being very excited that you shared the story. It's really neat to get positive feedback from someone doing the real work where the rubber meets the road.
Throughout my career in medicine, my colleagues and I unearthed only a couple very rare genetic disorders. Typically we would refer patients to specialists after hitting multiple diagnostic dead ends ourselves. Then a specialist or subspecialist would get involved maybe referring to an academic center. The bottom line is that these disorders are so rare that typically no one has the time or resources to adequately collect data or do substantial research. That is until an intelligent, scientifically grounded, and well-motivated patient - focuses like nobody else can. Your article David, will likely inspire others to grab the bull by the horns, just like Jill did.
Thanks so much for this comment, Mark. I'll definitely share it with Jill, and it's especially neat to hear it from someone like you, who has done the work where the rubber meets the road.
I remember my amazement when I read this story for the first time, and I always love any reason to revisit it. So thanks, David. It's a testament to your the relevance of your work and your writing that it can still grab so many people years later.
One question for you about writing. I know you've talked before about the value of having an editor for your work as a journalist and author. I'm curious about how it works for this newsletter. Do you have an editor who gives you feedback on this newsletter before you publish? If not, have you found any helpful strategies for editing your own writing in the cases when you don't have another person to comb through it? Personally I find myself in the latter situation quite a bit, and I'd be all ears if you have any advice. Thanks!
Score a new process question! (Btw I do hope to respond to your multi-part question on a previous post, but will probably be slow. You said you get an alert when I respond, right?)
I think editors are extremely important, especially because it is so hard not to get anchored to a first draft. A first draft might start in the wrong place, but you just have to get something down to get going, but just by putting it down, it becomes hard to conceive of other structures. So a major function of an editor for me is as like my anti-anchoring coach, or something like that, helping me consider other possible structures. Ok, regarding the newsletter: the unfortunate answer is that, right now, it's only getting self-editing. At Bulletin, at one point I was overwhelmed with work and life logistics, and started working with a virtual assistant, and to my surprise she (Ruth Nelson) was a terrific poet and writer. I hadn't expected to have her editing my newsletters, but pretty soon I was having her looking at every single one as a matter of course. She also knew formal grammar much better than I did, so she taught me a bit of grammar. (I've rebranded my lack of formal grammar knowledge as saying "I'm more of a jazz writer," since many of the jazz greats only learned to read music later;) Ruth moved on to a new job, helping design a fantasy world for a video game project, which, imo, is a great fit for her. My loss! ...My wife is also a terrific editor, so sometimes I ask her to look. But she's been too busy lately, so it's just been me. Actually, if I dive into something related to research methods or stats, I often run it by psychologist Drew Bailey, since he's a real methods gadfly, and that limits the chances of me making stupid mistakes. But right now I'm my own editor, which isn't ideal, but I think I've learned some lessons from Ruth and my wife that hopefully I'm applying. Three of the big ones: 1) newsletter posts aren't traditional articles, and they aren't read the same way, so I need to give away more of the general gist of the post at the top, instead of some long unfurling. I think I generally try to do that now, somewhere very high up quickly give a sense of what's coming, instead of feeding my instinct to go into some stemwinder about why I'm interested in whatever it is. 2) If I say to myself, "This is getting long, should I cut this and this?" The answer should almost always be "yes." 3) Stick with the more conversational tone. ...Those were themes of their input, and I think it was good feedback. On the other hand, maybe it means I haven't done posts lately like the TikTok Tourette's post (https://davidepstein.substack.com/p/tiktok-tourettes-21-11-02), which was more on the article-y side of conversational. That could also be because I'm starting a new book, though, and I'm just feeling pressed for time.
To the general question of strategies for editing when you don't have another person to comb through:
-As above, if you're wondering if you should cut something, the answer is most often that you should.
-In service of the above point, word limits are really helpful. When I get down to final drafts of my books, and I have a very specific space I have to fit, I'm like looking for phrases that I can turn into single words to try to make the space and keep as much material as I can. In Range, in the citations, I asked for the text to be shrunk and deleted subtitles of some journals to gain some lines for the main text. Obviously, on this newsletter, I don't have a word limit, but I actually do have a range that I aim for, and if I go over I start cutting. (I don't apply the same limit to Q&As, but even there I have a target I don't really want to go over, and so I've cut plenty from every one.) And I think the process of cutting causes some good editing. Sometimes it requires rearrangement, which is what it takes to get me off that anchoring bias.
-I think it's always worth asking: If I had to structure this a different way, how would I do it? And even to try it some times and see if it's better. That can feel so painful, like you're cutting and pasting into chaos, but then you can clean it up, and it's often better.
-I read it over a bunch of times. Ideally, I give myself time between writing and editing, again to help with that anchoring feeling.
...I think those are some helpful self-editing things to try. But I think the biggest two would be giving yourself a reasonable word limit, and sticking to it. (Obviously, in extenuating circumstances all rules can be broken, but they're still useful benchmarks.) And considering how you'd structure the order of information if you forced to do it differently. And then leave some time between writing and editing if possible. If you find someone who is a good reader, asking them a specific question ("Do you think I should move this part to be before that part?") can be useful. Are any of those interesting? ...I'll keep thinking on this, but right now I'm not getting editing for the newsletter, and perhaps being a bit hasty with my self-editing! Fortunately, the conversational nature of newsletters provides me some slack.
Wow there are so many gems in here thank you. First off, yes I do get an alert, so thank you in advance if you ever get around to it. But really don't sweat it.
With regards to self-editing, my question came from the fact that I took your advice and I've written up a weekly travel blog for five weeks running now in an effort to improve my writing. I even made a substack to send it to my friends and family more easily! I've been mulling over the idea that being a better writer might actually mean being a better self-editor... maybe? So this is all so helpful for things I can try to employ myself. I'll start by really focusing on the word limit and forcing myself to do it differently. As I'm sure every writer every has realized, it's so hard to be objective with yourself! One question if it's okay: could you link to an article you've written in the past where you start with a stemwinder or long unfurling so I could compare the difference? By the way, talk about burying the lede. How exciting that you're starting a new book!! Here's to hoping writing books gets easier with experience.
Lastly, the advice on the word limit is great, but I'd just like to say that I'm very glad that you do not seem to feel any constraint for word limits in your comment responses. These are fantastic! My only critique is that they too often carelessly neglect to include a boat race.
A really good read and medical narrative, thank you for presenting. People like Jill remind me of amateur astronomers, finding comets and asteroids through hours and hours of impassioned work. I hope her ever-seeking mentality has benefited her own health and others. Most people would have given up. I spent an extra 2 hours with a patient after work Wednesday, trying to connect some dots between troubling masses suddenly found in multiple organs at the same time. Working with her, specialists, and Sloan Kettering next week is really a team approach, and might end up being a rare type of Multiple Endocrine Neoplasia. Without the patient’s partnership and determined deep dives into the rabbit holes, she might have been much delayed in her diagnosis and treatment. It takes a special combination of intelligence, courage, and creativity to succeed outside the box. Success can be simply finding answers, but we hope for more than that.
Ryan, that's so cool to hear. And while I obviously wish your patient weren't having to deal with this, it's inspiring to think about the team coming together with the patient as a member. ...As I read more history of science in general, it has become increasingly apparent to me how many contributions were made my someone or some team just framing a question well and doggedly going down a rabbit hole of curiosity. Popper and Kuhn kind of derided that as merely "normal science," but as far as I can tell, it seems like the norm, rather than the exception, or important contributions. ....I'm far afield, but you made me think of it.
I was blown away by this article and automatically subscribed. I'm a therapist and constantly surprised by human resourcefulness. Jill's spirit is deeply inspiring to me and gives me hope about the human race. As does your coverage.
I so hope there will be a cure in her lifetime, or at least as much relief as possible.
Hi Robyn, thanks so much for the kind words. I feel the same way about Jill;) I obviously don't know whether there will be a cure in her lifetime, but there has been some progress, and I think her contributions to medical research (after this story, a company sequenced the entire genomes of her family, and figured out why some members were afflicted much more than others) will certainly help others. I appreciate you reading, and glad Jill had the same effect on you that she did on me;)
So I read your book , The Sports Gene when it first came out and had forgotten about Jill’s story until I stumble fumbled my way to this post . Can’t wait to see what has given the story new
Life .
I remembered this story from when it first came out and hope that both the main characters and their families are doing well now. So I shared it with my advanced-reporting students to read for this week. But it raises a question for my other class, which is on media coverage of women's sports: Jill mentions being accused of intern syndrome and discounted at various points because she wasn't a "real" scientists. I wonder, though: could gender have anything to do with people not paying attention to her and/or Priscilla being accused of steroid use? Nobody would blink twice at a male hurdler showing up with that physique, and probably would be much more freaked out by a man with the dystrophy Jill displays. I got the impression that there was some sex linkage in these two chromosomal abnormalities, but I wonder if these women were blown off/viewed with suspicion because they were women. Any thoughts?
Hey Welch! Nice to hear from you. Of course, I don't have a definitive answer, but I think there's a long history of medical issues specific to women either being written off, recast as some form of hysteria, or even acknowledged but simply not studied. (And sometimes even when they are studied, male subjects are used. An unusual example I remember reading about: https://medicine.yale.edu/news-article/a-drug-for-women-tested-on-men/) The book "Invisible Women" is an interesting dive into women being understudied generally. As far as nobody accusing a male sprinter of steroid use, I think Priscilla's physique is clearly more rare for a female sprinter than it would be for a male sprinter, so certainly that propels the accusations. I think an interesting question is whether a male athlete who is similarly outlying in terms of muscle mass would generate the same level of accusations. My guess: there would be accusations, but not to the same degree.
That story introduced me to your writing and I’ve been a fan and reader ever since. So many people sent me the story as an example of what I study and write about: the patient-led revolution in health care. It was fun to see it go whizzing around the internet again!
Susannah! I distinctly remember being very excited that you shared the story. It's really neat to get positive feedback from someone doing the real work where the rubber meets the road.
Throughout my career in medicine, my colleagues and I unearthed only a couple very rare genetic disorders. Typically we would refer patients to specialists after hitting multiple diagnostic dead ends ourselves. Then a specialist or subspecialist would get involved maybe referring to an academic center. The bottom line is that these disorders are so rare that typically no one has the time or resources to adequately collect data or do substantial research. That is until an intelligent, scientifically grounded, and well-motivated patient - focuses like nobody else can. Your article David, will likely inspire others to grab the bull by the horns, just like Jill did.
Thanks so much for this comment, Mark. I'll definitely share it with Jill, and it's especially neat to hear it from someone like you, who has done the work where the rubber meets the road.
Thank you, Mark
I remember my amazement when I read this story for the first time, and I always love any reason to revisit it. So thanks, David. It's a testament to your the relevance of your work and your writing that it can still grab so many people years later.
One question for you about writing. I know you've talked before about the value of having an editor for your work as a journalist and author. I'm curious about how it works for this newsletter. Do you have an editor who gives you feedback on this newsletter before you publish? If not, have you found any helpful strategies for editing your own writing in the cases when you don't have another person to comb through it? Personally I find myself in the latter situation quite a bit, and I'd be all ears if you have any advice. Thanks!
Score a new process question! (Btw I do hope to respond to your multi-part question on a previous post, but will probably be slow. You said you get an alert when I respond, right?)
I think editors are extremely important, especially because it is so hard not to get anchored to a first draft. A first draft might start in the wrong place, but you just have to get something down to get going, but just by putting it down, it becomes hard to conceive of other structures. So a major function of an editor for me is as like my anti-anchoring coach, or something like that, helping me consider other possible structures. Ok, regarding the newsletter: the unfortunate answer is that, right now, it's only getting self-editing. At Bulletin, at one point I was overwhelmed with work and life logistics, and started working with a virtual assistant, and to my surprise she (Ruth Nelson) was a terrific poet and writer. I hadn't expected to have her editing my newsletters, but pretty soon I was having her looking at every single one as a matter of course. She also knew formal grammar much better than I did, so she taught me a bit of grammar. (I've rebranded my lack of formal grammar knowledge as saying "I'm more of a jazz writer," since many of the jazz greats only learned to read music later;) Ruth moved on to a new job, helping design a fantasy world for a video game project, which, imo, is a great fit for her. My loss! ...My wife is also a terrific editor, so sometimes I ask her to look. But she's been too busy lately, so it's just been me. Actually, if I dive into something related to research methods or stats, I often run it by psychologist Drew Bailey, since he's a real methods gadfly, and that limits the chances of me making stupid mistakes. But right now I'm my own editor, which isn't ideal, but I think I've learned some lessons from Ruth and my wife that hopefully I'm applying. Three of the big ones: 1) newsletter posts aren't traditional articles, and they aren't read the same way, so I need to give away more of the general gist of the post at the top, instead of some long unfurling. I think I generally try to do that now, somewhere very high up quickly give a sense of what's coming, instead of feeding my instinct to go into some stemwinder about why I'm interested in whatever it is. 2) If I say to myself, "This is getting long, should I cut this and this?" The answer should almost always be "yes." 3) Stick with the more conversational tone. ...Those were themes of their input, and I think it was good feedback. On the other hand, maybe it means I haven't done posts lately like the TikTok Tourette's post (https://davidepstein.substack.com/p/tiktok-tourettes-21-11-02), which was more on the article-y side of conversational. That could also be because I'm starting a new book, though, and I'm just feeling pressed for time.
To the general question of strategies for editing when you don't have another person to comb through:
-As above, if you're wondering if you should cut something, the answer is most often that you should.
-In service of the above point, word limits are really helpful. When I get down to final drafts of my books, and I have a very specific space I have to fit, I'm like looking for phrases that I can turn into single words to try to make the space and keep as much material as I can. In Range, in the citations, I asked for the text to be shrunk and deleted subtitles of some journals to gain some lines for the main text. Obviously, on this newsletter, I don't have a word limit, but I actually do have a range that I aim for, and if I go over I start cutting. (I don't apply the same limit to Q&As, but even there I have a target I don't really want to go over, and so I've cut plenty from every one.) And I think the process of cutting causes some good editing. Sometimes it requires rearrangement, which is what it takes to get me off that anchoring bias.
-I think it's always worth asking: If I had to structure this a different way, how would I do it? And even to try it some times and see if it's better. That can feel so painful, like you're cutting and pasting into chaos, but then you can clean it up, and it's often better.
-I read it over a bunch of times. Ideally, I give myself time between writing and editing, again to help with that anchoring feeling.
...I think those are some helpful self-editing things to try. But I think the biggest two would be giving yourself a reasonable word limit, and sticking to it. (Obviously, in extenuating circumstances all rules can be broken, but they're still useful benchmarks.) And considering how you'd structure the order of information if you forced to do it differently. And then leave some time between writing and editing if possible. If you find someone who is a good reader, asking them a specific question ("Do you think I should move this part to be before that part?") can be useful. Are any of those interesting? ...I'll keep thinking on this, but right now I'm not getting editing for the newsletter, and perhaps being a bit hasty with my self-editing! Fortunately, the conversational nature of newsletters provides me some slack.
Wow there are so many gems in here thank you. First off, yes I do get an alert, so thank you in advance if you ever get around to it. But really don't sweat it.
With regards to self-editing, my question came from the fact that I took your advice and I've written up a weekly travel blog for five weeks running now in an effort to improve my writing. I even made a substack to send it to my friends and family more easily! I've been mulling over the idea that being a better writer might actually mean being a better self-editor... maybe? So this is all so helpful for things I can try to employ myself. I'll start by really focusing on the word limit and forcing myself to do it differently. As I'm sure every writer every has realized, it's so hard to be objective with yourself! One question if it's okay: could you link to an article you've written in the past where you start with a stemwinder or long unfurling so I could compare the difference? By the way, talk about burying the lede. How exciting that you're starting a new book!! Here's to hoping writing books gets easier with experience.
Lastly, the advice on the word limit is great, but I'd just like to say that I'm very glad that you do not seem to feel any constraint for word limits in your comment responses. These are fantastic! My only critique is that they too often carelessly neglect to include a boat race.
A really good read and medical narrative, thank you for presenting. People like Jill remind me of amateur astronomers, finding comets and asteroids through hours and hours of impassioned work. I hope her ever-seeking mentality has benefited her own health and others. Most people would have given up. I spent an extra 2 hours with a patient after work Wednesday, trying to connect some dots between troubling masses suddenly found in multiple organs at the same time. Working with her, specialists, and Sloan Kettering next week is really a team approach, and might end up being a rare type of Multiple Endocrine Neoplasia. Without the patient’s partnership and determined deep dives into the rabbit holes, she might have been much delayed in her diagnosis and treatment. It takes a special combination of intelligence, courage, and creativity to succeed outside the box. Success can be simply finding answers, but we hope for more than that.
Ryan, that's so cool to hear. And while I obviously wish your patient weren't having to deal with this, it's inspiring to think about the team coming together with the patient as a member. ...As I read more history of science in general, it has become increasingly apparent to me how many contributions were made my someone or some team just framing a question well and doggedly going down a rabbit hole of curiosity. Popper and Kuhn kind of derided that as merely "normal science," but as far as I can tell, it seems like the norm, rather than the exception, or important contributions. ....I'm far afield, but you made me think of it.