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.
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?
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!
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.
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!
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.
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.
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?
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!
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.
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!
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.