In this essay, David Epstein explores how a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist. Shortly after the story ran, biotech companies in the U.S. and the U.K. contacted Jill with offers to study huge portions of her genome for free, and to do the same for her affected family members, as well as for Priscilla.“While they don't believe they've found a smoking gun,' Jill says, “they have identified two potential genes of interest' that may help explain why family members with the same disease can be so differently impacted.
It is the dream of many rare disease patients to have a scientist orient his research agenda around them - but how realistic is this? Is it a good use of the patient or the scientist's time? How will these kinds of interactions change medical research in the future?
Write your response in a comment to this page.
Scott Chaddon Jr
“[Jill] went to the Iowa Heart Center with her Emery-Dreifuss papers and started insisting that a cardiologist needed to see her father. At first, nurses told her she’d need a referral. But Jill had trouble getting one and was so relentless that they eventually gave in (Jahren 210).”
When I began reading this article, I felt sceptical about Jill’s ideas. My first thought was that she was simply trying to make herself more than she actually was. Very similar to the nurses at the Heart Center, my thoughts were that she was just spouting off random things that she had found online and that she had no hard proof of her claims. The more I read about her story, however, the more I realized that she had enough information to warrant someone at least examine her claims.
People with higher educations tend to turn away those that lack what we see as “the proper qualifications,†even when they have good points. It’s prideful to the point of being harmful. Jill had to pretty much annoy the clinic into paying attention to her and her father. They just kept brushing Jill’s claims and research off to the side without a thought.
While reading over this article, I couldn’t help but think “How many ideas and theories have gone untested just because the scientific community wouldn’t even listen?†Doubtless, many scientific specialists have constant issues with people who know nothing about their field of study trying to talk to them about it as equals. Everyone thinks that they know better because they “read this†or “heard that.†Is this really a good excuse for turning away passionate people who have actually done the hard research?
I feel that scientists should listen to rare disease patients and at least look into the patients’ studies to see if it’s credible. These patients shouldn’t have to fight tooth and nail just to have an idea listened to. It honestly doesn’t feel like this could really happen, though, given time and budget restraints. Listening to patients seemingly like Jill could very well end up being a waste of time and resources, but isn’t it worth it to try and mine that one little bit of genius? If I was a scientist studying a mutation, and someone with that mutation– someone who understood it, someone who could recognize it through experience –was offering to help me out, I would accept their help in a heartbeat, if nothing more than for them to help grant me a better understanding of my research topic.
Accepting the assistance of rare disease patients in the studies of these diseases and disorders would bring a new level of passion to the study, and would allow the scientists to have better access to those with the condition. This would likely help move studies along faster, as well as bring together different groups who may not have otherwise known that their research had something in common (much like Etienne Lefai’s SREBP1 studies).
Kimberly Ulery
I feel similarly to your question of how many ideas/theories have gone untested because of the scientific community not listening. I’m sure that there are many theories of disease found by patients, that did not get further looked into because the scientist either didn’t have the time, or has seen way too much of the “diagnosed by google” patients that they can’t take the time to really listen due to constraints. Jill faced these challenges as well and it took her years before she was able to make a break-through and officially say she had the disease proven by lab tests. However, Jill had to go very out of her way (Sending her blood to Italy!) to get the answers and results she wanted, as well as the scientists attention. Finding someone willing to do the lab-work to test for certain mutations seems to be VERY difficult, according to how Priscilla was treated. Advances in the laboratory/blood processing department, should assist greatly with the advances needed in order to help these patients whom truly believe they have a disease, in my opinion. There’s also the factor of WHAT exactly to look for within the blood as well, which goes to show that figuring out even just one disease is a very difficult task to undertake. However, within this, usually research on one yields light on many other diseases, making the beneficiaries of the research more than just the few patients with the one specific disease.
Isabella Darrah
Truly it was Jill’s tenacity that opened the doors to the answers she was searching for. I think it’s unrealistic to expect that /every/ rare disease patient will receive the answers that Jill did, but again, not every patient will have her determination. It is her great expanse of knowledge of her disorder that led her to be a better candidate for comprehensive testing. In cases like Jill’s where a rare disease patient is able to receive a true and thorough diagnosis, it is in both the doctor’s and patient’s best interest. Jill’s doctor was one of probably a handful that was heavily knowledgable about her disorder. So Jill was able to learn more than she ever could in her readings and her doctor (and the Italians) were able to gather just as much new information that they otherwise wouldn’t.
As these rare disorders affect few people, any breakthrough relevant to them will more than likely only benefit few people. In the grand scheme of things it could be argued that at times, heavily researching rare disorders is a poorer use of time for a doctor or scientist than researching cancer. Yet I truly think that if research of a rare disease helps just one person affected, then it was very beneficial to all involved.
James W.
I cannot argue with the fact that curing cancer will aid thousands of times more people in the long run over finding cures or treatments for these much more rare diseases. However, given that billions of dollars and countless researches and studies have, and are being done in the curing, treating and prevention of cancer. I would argue that there are much larger steps able to be made for more minor diseases, by fewer and less well funded researchers. As we develop better treatments for a larger and larger variety of diseases, it is only natural that research will move to more and more obscure diseases to work with. Its true that many more people will be aided with a cure for cancer. But it’s also true that any person with a disease, no matter how rare, deserves a chance to also be cured.
Moira O'Bryant
I agree with you. I hate to say it, but the time and skills of doctors and researchers could be more beneficial elsewhere. What areas of research will effect more people and help more people? Unfortunately, there will always be a short end of the stick and someone will always have to take it.
I do think that time should be given to rare diseases. Although the group of patients may be smaller, their worth and value is not any less than individuals with more common illnesses.
I wonder if more patients with rare diseases heard Jill’s story, they would be more motivated to push for and seek out answers. I think it’s really easy to get stuck in accepting your fate, rather than fighting for your future.
Alex
It true research into a rare disease only directly inpacts a small amount of people but it may also lead to futher discoveries that helps many more people. The essay explains how understanding a rare disease that is caused by a single gene can help understand a more common disease (210). While understanding Jill’s condition and the genes effecting it may not help anyone, it also possible will help someone. Although like you said that is unlikely but every little bit of information helps us better understand the bigger picture. Also it seems to me, understanding a disease caused by a single mutated gene would be much easier than something more common that may be caused by many genes all interacting with each other. I agree that research of disease, even a rare one, helps everyone involved. It was probably very disheartening for Jill to have to first convience the doctors of her condition and then realize relatively few people are doing research into it. I was glad to read that she did manage to find the Italians and Lefai.
Jasmine Boyd
I too believe it was Jill’s determination that allowed to paved the way for her to have her multiple self diagnosis’ confirmed by scientist. Then I read how many people told her she was wrong; it’s an attest to to her hard work and definitely determination. I was truly inspiring to read that she was determined enough to educate herself so vastly on her condition and her writing could be mistaken as one of a scientist. I believe, if this read could be emotionally and mentally beneficial to those who suffer from rare diseases.
Kimberly Ulery
It can be very beneficial to orient a scientists time around a person’s rare genetic disorder. This is how new discoveries are made, and is also how cures/treatments are developed. “And Priscilla did indeed have a mutation on her lamin gene. Both women have a typo on the same one of their 23,000 genes. Priscilla’s is not the exact same “single-letter” typo that Jill has though; it’s a neighbor typo (Jahren 2017).”
When a scientist is researching one specific disease; they do not make discoveries that only affect the people who have that one specific disease. Many of these mutations are closely related, like in the example above where Priscilla had a typo on the same gene; just with a different letter. While it may not be most cost-effective for one scientist to study just one disease, I think it is still worth the time for any scientist who is truly interested to do so. When a patient like Jill has done their extensive research that clearly showed she knew much about this disease; if a scientist is willing to undertake that and decide to focus his work on it; why not. Jill’s persistence and own personal research is what got her to where she’s at and is also how her fathers and Priscilla’s lives were saved.
These interactions between patient and scientist will change the future, and the research being done within it. In many ways, Jill did much of the grunt work of figuring out her disease, as well as showing how it changed her versus how it changed others, and what the difference between that was. These discoveries will benefit others around the world who have diseases like Emery-Dreifuss and lipodystrophy, and may also help doctors decide whether or not a person actually has these diseases since they’re now becoming more well-known.
Scott Chaddon Jr
I like that you pointed out the fact of different mutations being closely related. I guess it would be good for people to think of genetic research less like throwing darts (aiming for and hitting a single point) and compare it instead to throwing a water balloon (splashing over into the area around the target). Our genetics are often represented as a string of connected points, so it makes sense that touching upon one point would affect neighbouring ones.
I also agree with you that scientists should work with the patients that are similar to Jill, the only problem is that it may be difficult to find people as genuine as Jill. The scientists would have to make sure that the individuals wanting to help were mentally sound. They would need to be people who could handle disappointment. They couldn’t be people who feel that the world owes them anything. The scientist could very well end up wasting time and money on a helping patient who ends up being more trouble than assistance. This problem could be lessened by developing a basic psychological screening process. Screening brings its own problems, but it would allow mutation patient assistance while reducing the chances of some prominent issues.
James W.
Jill is was a young girl with abnormal drive and intelligence. Having doctors say that they didn’t know what was wrong with her, and weren’t sure what to do, just wasn’t enough. By the time she got to college Jill was taking maters into her own hands, and started researching her disease herself. Through tireless research she found Emery-Dreifuss disease that matched her own symptoms perfectly. Her next task, which proved to be possibly more difficult than the research, was convincing medical professionals to help do the tests to prove her right. Convincing a doctor that she had a disease found in less than 1 in 100,000 people. Being in a position where I will soon (hopefully) be a physicians assistant, I find myself relating to the doctors who didn’t listen, just as much as with the girl who did the research to prove it herself.
“She went to the Iowa Heart Center with her Emery-Dreifuss papers and started insisting that a cardiologist needed to see her father. At first, nurses told her she’d need a referral. But Jill had trouble getting one and was so relentless that eventually they gave in.” Her determination undoubtedly saved her fathers life. I look at this from the clinical side of things, where every other daughter of a patient is extremely worried about their father, and insist that they are seen immediately. Unfortunately, not every person needs to be seen, because not every person has a life threatening issue, no matter how much the family thinks otherwise. The worry that comes to me as a medical professional is being able to tell the difference, between Jill, who has done countless hours of academic research; and another daughter who spent 15 minutes on WebMD and has come to the same conclusion.
This article made me think about the difficulty of being a doctor, seeing a patient who has self diagnosed. How are you able to keep an open mind, when likely 99% of these people are incorrect and under informed about their issue? While it would be foolish to assume, as a doctor, that you know more about the persons symptoms than the person themselves; many patients have little to no medical knowledge and hardly no one has the rare and deadly disease they think they have. Etienne Lefai says in the article, “I had no idea yet that Jill, just by investigating her own family, had learned more about the manifestations of her disease than nearly anyone in the world, and that she could see things that no one else could.” Remarkable intelligence and drive had gotten Jill to the correct answer, this is an exception to the rule. But had any of the doctors been a little less stubborn, or worn down by patients who swore they knew what disease they had; Jill’s struggle would have been so much easier. But if you listen to every patient and their insistence on their own diagnosis, you will fill your days with people, who will most likely be completely incorrect.
Chelsea Barnett
I agree with you that a patient presenting their own research and diagnosis to a doctor can put the doctor in an uncomfortable situation and that there would not be time to address every patient’s guess of a diagnosis but I also believe that doctors should listen to their patients. Doctor’s don’t see every aspect of a patients life and so sometimes a patient, like Jill, has more of an insight into possible diseases than a doctor has. Jill presented extensive research to doctors that immediately turned her down and didn’t even see Jill’s diagnosis as a possibility, I agree with you that if doctors had listened to her that Jill would have struggled less to get her diagnosis.
I think that interactions between doctors and patients can be difficult and that both parties can be put into bad situations through patients trying to diagnose themselves but I think that above all, doctors should trust their patients in order to help save lives.
Moira O'Bryant
I think it is in the best interest of both the patient and the doctor if participating together in researching the disorder is something they both want. For some patients, being involved can be both physically and emotionally painful. If they are not passionate about being an advocate for themselves and others, the physical and emotional consequences may do more harm than good. The priorities of the doctor should also be considered. Although medical advancements are necessary for improving health, prevention, and treatment development, it may be more important for the doctor to focus their time and skill elsewhere. Likewise, if the doctor does not share the drive and commitment to the project and patient, it may not be completed with the attention and to the standards it deserves.
I think it could be difficult for doctors to involve themselves in a situation like Jill’s. It may be off-putting to be approached by a patient with a DYI diagnosis and difficult to take them seriously. I think it is in the best interest of everyone involved for the doctor to at least keep an open mind. Trust the patient and listen to how they experience and observe their illness. Nothing will be accomplished and no one will benefit if exploration is immediately shut down. I’m not sure how realistic another situation like Jill’s would be. But if it were to happen successfully, the benefits for future patients and doctors would likely outweigh complications that are NOT in the best interest of those involved. And if it is something the patient and doctor both want and are passionate about, they would be willing to submit to the necessary sacrifices.
Ryan Hoskins-Chaddon
You have a great post. I enjoyed reading it.
I understand where you’re coming from. Anything of importance that needs to be done deserves to be done by someone who understands and enjoys the work. If it’s not, then we run the risk of incomplete or even harmful results. However, there should be something said about duty. These are doctors and medical specialists that were outright rejecting Jill, and as medical professionals it shouldn’t matter if they are passionate about some persons deadly or life-altering disease. Sure, her condition was not in some of the doctor’s specialties and they sent her to a facility that would hopefully be better able deal with it; this was the right move. As I see it, the error occurred when she went to doctors and medical professionals with her research and was immediately disregarded. Jill had to hound the hospital staff until her father was seen and had to have a friend of hers steal needles and containers in order for her to get any answers. The worst part about it was that it was completely feasible that she had the mutation, scientifically speaking, and it was obvious that her muscles were withering. They should have taken the time, passionate or not, to consider and study her materials. Afterward they could have recommended a geneticist that could have worked with her and her family, and they would have likely done so with fervor.
It’s difficult to be approached by a patient with a personally diagnosed disease. Most of them look on WebMD and think they have the plague. But when you obviously have a form of muscular dystrophy, a legion of evidence in hand, and a conclusion based on that evidence then they shouldn’t usher you away. They are professionals and, in my way of thinking, they should act like professionals whether or not they want to do something and, at the very least, refer them to someone better able to deal with the problem.
Sarah Sanders
I agree with you Ryan, that doctors have a duty to aid/investigate a patient’s claims to a reasonable degree before kicking them to the curb simply because they’re “self diagnosed”. While I’m sure WebMD has created lots of frustration and annoyance for doctors and medical professionals, I also think more information is better than less. Who has more incentive to investigate and find an answer to a problem than the person experiencing the problem? A good Dr. would absolutely keep an open mind at the very least.
Ryan Hoskins-Chaddon
“She asked the neurologist to take a look, hoping that she would help her connect with the Italian team and get in the study. But the neurologist would have none of it. “No, you don’t have that,†Jill recalls the neurologist saying sternly.â€(pg. 210) Consider a situation similar to Jill’s, where you may or may not have a condition that is easily life-threatening. Now consider if everyone who may be able to help refuses to do so because they have made an immediate judgment about you and your condition. Perhaps in doing so you can understand the frustration, even anger, that Jill felt just trying to grasp onto a chance of proper treatment.
Frustrations aside, I believe that this excerpt, as well as the sections of the text that deal with taking her father to the hospital, a very disturbing element in medical and scientific professions. In the passage, Jill is talking to a neurologist and is only asking them to put her in contact with Italian researchers who are studying the condition that she believed she had. The neurologist barely glanced at the documents that Jill had brought before declining the minimal effort of picking up a phone, sending and e-mail, or even mailing a letter to them with Jill’s contact information.
The doctors that Jill had spoken to were the same. They scoffed at the idea that she could possibly have Emery-Dreifuss muscular dystrophy (and later partial lipodystrophy; pg. 212). This is, or at least should be, unethical practice. If you, as a patient, go and see a doctor with concerns about your health you would expect them to run tests and examine your concerns. In Jill’s situation where her limbs were so far degraded and no other professional could explain it (pg. 208), this should absolutely be the course of action, no matter how unlikely it is. It’s understandable that these professionals want to spare their clients time and resources, but when dealing with somebody’s life and livelihood they should perform with due diligence.
The rest of the essay was very enjoyable and read like a story that someone would write to a friend. Overall I found myself heartened by Jill’s perseverance and her personal and family rewards as a result of her tenacity. The author did well in communicating the story to the reader and I don’t think that I was the only one cheering Jill on, which speaks to the skill in not only the author’s ability but in their story-telling. I would expect a much more in-depth look at the condition plaguing Jill and the Canadian Olympian, Priscilla in a book like this. I would have inserted more of the scientific and medical background involving their genetic mutation.
This essay is definitely worth reading, no matter what genre you normally subscribe to. Most importantly, I believe it highlights the important issue of professional elitism that could get people killed or allow them to suffer. We should be careful not to fall to that elitism as we head forward.
Manny C
I completely agree with your feelings about her neurology consult. The general attitude of healthcare professionals is that the patient knows nothing. In most cases this is probably true, however, like you stated, how frustrating when you have presented such a case after much time and effort, only to be disregarded. I was definitely cheering Jill on as well. The author did present this essay in a story-like fashion. I think while more scientific background would be insightful, enough was presented to maintain the positive tone we both enjoyed. Delving into more background on the genetic mutation may have taken away from the story-telling feel of the essay.
Manny C
The reality of a scientist focusing his attention on a single rare-disease patient is not commonplace. While the spotlight would be well-deserved (and likely productive) it is not an undertaking most scientists have the ability to choose. This does not negate the value of well documented data, however, and we see this in Jill Viles’ tireless effort in discovering her own genetic anomaly. The self-guided relationship between library and laboratory is what defines Jill’s journey. Her proactive approach, using the resources at her disposal, made for a case that could not be ignored even before any genetic testing could be completed.
“Other people went to doctors and got solutions. That never happened for Jill, so she started looking for answers on her own…”
This attitude and determination is what could altar the patient-doctor relationship in regards to medical research in the future. The ability to hear there is no answer for your medical condition, and yet have the drive to utilize every resource available, in an attempt to present a better case to find one, requires herculean drive and determination. This approach utilizes everyone’s time effectively, and in Jill’s case we see, was life-saving to her own father and new Olympic friend. While a single patient may not always have the spotlight, we can learn from this story that great progress can be made when their resourcefulness and tenacity meet a welcoming science community.
Chelsea Barnett
“…I had no idea of what I can do with genetic diseases before she contacted me. Now I have changed the path of my team. Since Jill contacted him, he has learned that lamin proteins… can interact with SREBP1.†(pg. 220,221)
I chose this particular quote to supplement my argument because it demonstrates how one person’s initiative can create new discoveries. This particular quote also appealed to me because it shared the future possibilities that could be achieved because of Jill.
When Jill shared her knowledge of how SREBP1 was interacting with both her and Priscilla’s lamin gene with Lefai, she helped open Lefai’s research and introduce a new direction of study for him. After Lefai started researching this he made discoveries about lamin proteins and how they can affect genetic diseases.
This particular part of the essay demonstrated why it is important and useful for scientists to work their research around a particular patient. If it were not for Jill’s extensive research and initiative in contacting Lefai, the discoveries that Lefai made would have not been made. Jill’s research jumpstarted new discoveries that will help make advances in the scientific world and help other people in diagnosing and trying to treat genetic diseases. Although Jill’s research was time consuming and taxing, the ultimate reward of scientific discovery and the saving of lives outweighed the cost. It is important for doctors and scientists to take the research of patients like Jill seriously because doctors don’t see every aspect of a patient’s life and may be missing something crucial in the diagnosis of that patient. It is also important for doctors and scientists to take seriously possible ideas that a patient has and be open to run tests. It doesn’t hurt to test a patient for a disease they may think they have. Testing and getting a negative result is better than not testing and missing an important life-saving diagnosis.
Interactions between patients and doctors are changing as technology makes information more accessible and opens communication for people with similar diseases. This open communication helps doctors and scientists see trends between people with the same disease that weren’t previously seen. For example, a Yahoo discussion board of people with Norrie disease experiencing erectile disfunction led to the discovery that Norrie disease was also a blood vessel disease. (pg. 220) Jill was also able to use the internet to learn more about Priscilla and get in contact with doctors and scientists. As technology continues to open communication and empower people to share their experiences, the possibility of new discoveries in increased.
Christian Williams
I wrote mostly around the relationships that patients and their doctors/researchers should have and how it should be more personal. Patients can go to doctors hoping that the doctors can tell them what it is and that they can go on their way, but like you talked about Jill also took things into her own hands and did her own research and put herself in a position to be in contact with Lefai. More patients should be reaching out like Jill and that can lead to better patient interaction with professionals as well as the reward of more potential scientific and medical discoveries like Jill’s. These online discussion boards like yahoo or reddit can lead to like minded individuals to share their research and knowledge with each other and get new perspectives on things they are interested in. I agree with a lot of what you wrote, but didn’t even think go in that direction so it just shows what getting people together and sharing perspectives and research can do.
Alex
It is not realistic for rare disease patients to expect this to happen to them. Only Jill’s determination and resourcefulness allowed her to find some answers. Even so, with all her research professionals still did not believe her and out right dismissed her findings. They said she just had “intern syndromeâ€. I guess the scientists did not want to think that someone less formally educated than them could know more about this condition. This issue is personal to Jill which could cloud her judgement. Also, I’m sure some people do get intern syndrome but unlike Jill they do not have something obviously wrong with them that no one seems what causes it. Most people would not put in so much work to research and understand their illness that they become an expert on it and know more than most professionals. I would say Jill’s research was a good use of her time. While it is unlikely she will see any breakthroughs that can help in her lifetime, she did save her dad’s life and inform Priscilla about her condition. I was surprised at how it was discovered that both Jill and Priscilla had lipodystrophy. I was expecting both to have taken a DNA test of some sort and scientists connected them. In reality, Jill thought she and Priscilla had a similar condition based on a picture. The chance of someone else doing what Jill did is, as the author put it, one in far more than the number of people who have lived on Earth. Maybe not that high but still very improbable.
I found the part about the hallmarks of Emery-Dreifuss interesting. One of the hallmarks is that patients cannot touch their heels to the floor (Jahren, 209). I am having trouble visualizing this. Are they walking on the balls of their feet? If so, no wonder they have difficulty with their balance.
Christian Williams
With all diseases it is important to have hope, even if it’s unrealistic hope. As unrealistic as it is to have a research group based and dedicated to finding a cure for your specific condition, I think everyone deserves to have a fighting chance. Obviously, there are more high profile or more common diseases that are more worthwhile of funding, Huntington’s Disease for example, and those should be prioritized in our world of limited labor and resources that we can devote. The trouble with making a disease more important than another is that it pushes away people with a rarer disease. They are people too and their struggles are just as difficult and important to them as anyone else’s. With that in mind, Jill’s story could help the future of doctor-patient interactions where doctor’s try harder to treat the patient and not just the condition. The doctors didn’t see passed her condition to see a woman that was strong enough and smart enough to find a diagnosis that they wouldn’t belief she had. She won a big battle in improving relations between doctors and how they look at patients. Then, looking at her effort in discovering her condition, it was worth her time tremendously as it put her in a position that benefited Pricilla, got her in contact with researchers looking at her condition, found potential leads in the future of possibly curing the genetic condition, and could potentially improve the lives around the world that share her disease. I think often time, just like doctors do, researches get caught up in the condition so much that they may lose sight of how these diseases are attached to people. People like Jill who are smart, dedicated people that even if they can’t show it, are worth the time and effort and expense of trying to find a cure for their condition. That is something more researchers should know and can learn from. Just because two people have a large gap in education, doesn’t mean they can’t learn from each other. Something more people can get better at is looking through someone’s differences and seeing at their core is a person struggling through life in very similar ways as they are. That could help so many things in our world, race relations, country to country relations, etc… as well as what we see here in patient relations with the very people they hope can help them. So maybe more researchers can seek out people with the conditions they are trying to cure and sit down with them. Have conversations with people and not the conditions they have.
Marissa King
I agree with you, everyone deserves to have a fighting chance. Jills determination and hard work could help so many patients in the future because doctors will spend more time on trying to figure out the problem instead of pushing it aside. I really like how you stated that two people having a large gap in educations means nothing because Jill diagnose herself and others problems. She saved her dads life until he was 63 and also Priscilla. Thats amazing and a win in my eyes.
Sarah Sanders
“Many rare diseases, though, actually are caused by single genes that alone have a large impact on biology. So those mutant genes have been far easier to locate. And sometimes when scientists can figure out what’s causing a serious and rare disease, they can begin to untangle more common ailments.” (pg 219)
Although it is not realistic for every patient with a rare disease to have a personal research scientist to solve their medical mystery, there is certainly a benefit to the wider population when rare diseases are studied.
It’s exciting that science and technology are continuing to advance and make life better for humanity. The “Matchmaker Exchange” and other online forums like it are such a cool way of bringing people and information together and collecting data for research. Curiosity, an open mind and a willingness to look at information whether it comes from a source with a Phd or one with an internet connection and personal experience is absolutely essential to the future of science.
Ruby
I agree, it is definitely beneficial to a wider population and making and using tools like “Matchmaker Exchange” could open doors for finding ways to unlock those benefits. If answers to multiple different questions can be found through searching for a single answer why not look. I also 100% agree that curiosity, an open mind with a willingness to look at (or for) information is essential to the future of science. I strongly believe in asking questions and learning something new every day.
Jasmine Boyd
I can’t say from experience but I would imagine so. As we have read with this case, rare diseases can be debilitating and if only someone who had the tools and skill set to help you to diagnose your condition and ultimately help you get treatment, I’m sure anyone on Earth would hope their case gain the special interest of a scientist. I think anything is possible through determination, resourcefulness and faith but to simply expect the help is unrealistic. I think Jill’s unrelenting research efforts to find scientific/medical support with her self diagnosis is what lead her to align herself with those who were in the position to help her.
I believe any scientific and medical help towards a disease that could be effecting more than a few people is worth the effort. What good would it be to have the knowledge and skill set to help the world if you’re not going to put it to good use?
I think these kind of interactions can change the world by allowing more people to reach out for scientific support; giving many a better chance at life or the possibility for a longer life or simply more genetic collections for further studies. The more rare diseases are diagnosed the greater chance generations after us have to thrive.
Jasmine Reich
I agree with you entirely. Her hard work and determination definitely got her noticed and brought on new discoveries and advancements. Even if she didn’t get noticed by the big scientists, the fact that she essentially helped extend the life of two people is good enough. A lot of us, myself included, are so quick to agree with doctors diagnosis’ even if it doesn’t sit well with us. If I had faced Jill’s situation, I don’t know that I would’ve handled it as well as she did. Instead of accepting that they had no diagnosis for her, she made her own and helped find the diagnosis for her family members and a complete stranger. I loved this story and feel like certain diseases and cures could possibly see a lot of advancement with more people like Jill.
Ruby
I agree that Jill’s personal research and persistence were key to gaining attention to her case. I think it’s possible that someone may attain the same attention but I find it highly unlikely. Although, expecting help might not be so unrealistic, in my opinion. Jill went to several doctors with her health seemingly to deteriorate further as the essay describes, from falling, to bent arms, slanted feet, stiff neck along with other persistent worrying symptoms. In her case, one should definitely expect help. As she did, she expected the help from doctors and when it wasn’t given that is when she took it upon herself to help herself. Maybe it is unrealistic because today that help is more easily accessible? Our means of diagnosing has surely been improved since the 1990s.
My question for you would be, who is to say how many people are effected by the efforts made by scientists or medical staff focused on a single disease? Page 219 states that, “sometimes when scientists can figure out what’s causing a serious and rare disease, they can begin to untangle more common ailments.” Meaning that work on a rare condition could result in a multitude of people with a variety of conditions could be reached.
I like your final statement, that with more rare diseases being diagnosed there is greater chance for generations to thrive. That is so true. I feel like much of my focus was on the idea of breakthroughs in one rare disease could help future generations with that disease, but your final statement opened me to the thought of identifying multiple diseases and working towards helping generations as wholes rather than pieces. Very interesting.
Ruby
It’s not very realistic for a patient with a rare disease to have a scientist orient their research agenda around them. I would think that a scientists research may be initiated or directed in an area by a patient but then the focus would be on the disease itself. “I had no idea of what I can do with genetic diseases before she contacted me. Now I have changed the path of my team.” (pg. 220, Lefai) Lefai was doing ‘extremely technical work’ on the protein SREBP1. After his contact with Jill his work still focused around SREBP1 but has learned that it can interact with the lamin proteins. He is taking that knowledge to research if a lamin gene mutation could alter the lamin proteins regulation of SREBP1. That isn’t necessarily focusing on the diagnosis that Jill has of Emery-Dreifuss but his research could lead to further knowledge about that disease.
All that being said, I would wonder if it is unrealistic because perhaps most people with a rare disease have not been medically diagnosed by a doctor. I can’t help but wonder if Jill would have ever received a diagnosis if she hadn’t persisted with her research. On page 208 it describes Jill’s yearly summer returns to the Mayo Clinic and states, “There was nothing doctors could do and nothing new they could tell her.” This makes me wonder how many people are actually living life with so-called rare conditions. Jill, her father, her brothers, and Priscilla all had these rare mutations and could have all went undiagnosed for very well there whole lives if Jill hadn’t intervened. Even with adding symptoms; falling, bent arms, slanted feet, stiff neck, bulging veins; she was left to her own devices.
I understand that most people who self-diagnose are slight levels of hypochondriacs. Everyone does it now and then. Honestly, last semester I went online and decided I had narcolepsy. Obviously that doesn’t mean I definitely have narcolepsy and it was easily dismissible once my symptoms went away when my stress and good nightly rests came back. Of course, my symptoms were not as persistent and defined as someone like Jill’s. There was not only a difference in symptoms but a difference in research. Most DIY diagnoses are done through simple Google searches. Jill went beyond poltergeists and Google, digging deeper into scientific journals, articles, and studies.
In Jill’s case, her own research was beneficial to her life to finally have an answer. It wasn’t witches or ghosts, it was Emery-Dreifuss. The knowledge she acquired helped give her father more time with her and her family. It helped Priscilla end the accusations of steroids and protect her from pancreas problems. But is the orientation of a scientists research around her disease beneficial to Jill? There is definitely no easy answer to that question. In my own opinion, I would say probably not. Knowing her diagnosis could help her change her life so that she is not progressing or aggravating her disease quicker, she can manage her symptoms but it doesn’t give her a magic treatment or cure. Realistically, it could take decades. On page 221 it states, “The first time Jill and I spoke, she told me that she knew there would be no treatment breakthrough in her lifetime.” and “[she] hopes that maybe she’ll have made a small contribution to a therapy that is developed for some other generation.” I think that those statements answer where or not it is a good use of the patient or the scientist’s time. For the patient personally, no probably not but it may be for their family that carries the mutation or disease through the generations of their family. For the scientist, depending on what they are hoping to accomplish, it may be. Perhaps they may find what they are looking for or perhaps they may find links to different anomalies to which they find deeper understanding. For future generations, patient and scientists, research that is directed could heed results. They will be the beneficiaries.
Future research involving these types of interactions may ‘spark new discoveries’. As page 219 through 220 states, “A person with a rare disease in their family will often have seen more cases and different manifestations of the disease than any doctor has.” I think this type of research could lead to breakthroughs in understanding of our genetics, treatments of diseases, or maybe just like in Jill’s case, an answer to a question.
Marissa King
To me, it is not very realistic to have a scientist or doctor spend time trying to figure out which mutation a single person has because they have so much more to worry about. Jill, was a very determined and hard working girl who wanted to figure out which genetic mutations her family and she had and the only way to do this was by tons of hours of research and bothering people. She waited four years to hear back from the Italians and she accomplished one thing, which was finding out she had a genetic mutation. She helped save her dads life until he was 63 years old and he fell asleep and never woke back up. She saved the olympic by helping to figure out which disease she had and they became best friends. Jill’s determination is what saved her dads life and thats amazing. Not everyone will be as determined as she is and thats the only reason she found out which diseases they had. I believe though if research of one disease helps one or more people affected it will greatly benefit everyone because that is such an amazing accomplishment. We learned from this story that by determination and hard work it can benefit multiple people, just like Jill did. “This is my kryptonite, but this is her rocket fuel (page 215)” says Jill.
Jasmine Reich
This essay was extremely fascinating and tragic all at the same time. I am so enamored by Jill. Her drive to learn every thing there is to learn about Emery-Dreifuss and Lipodystrophy, not just for her benefit, but for the benefit of everyone who suffers from it, is extraordinary. Unfortunately, Jill’s situation isn’t a typical situation. It isn’t realistic for a scientist to change the whole direction of his research to essentially answer her questions and make it possible to hopefully find a cure one day. However, I do believe Jill had all of the amazing opportunities with these notable people happened by chance. It seems to me that the people in this story took the time to listen to her story because she was special. The work she put into discovering and understanding her disease is astounding. In the essay, David Epstein said, “Jill had clearly put a lot of effort into this, so I felt like I had to at least read it. Within a few minutes I was astounded. This woman knew some serious science. She offhandedly noted that certain hormones, like insulin, were too large to enter our cells directly; she referred to gene mutations by their specific DNA addresses, the way a scientist would.” She diagnosed herself with not only one, but two extremely rare genetic disorders, despite numerous doctors having no clue what was wrong. Jill’s remarkable knowledge and drive to help others seems to catch the attention of just the right people in the world of science.
In this case, it is definitely a good use of the patient and the scientist time. It’s unfortunate that it caused Jill so much anxiety and she may feel like she missed out on a lot of time with her family, but her endeavors were not in vain. It certainly seemed as if she extended the life of her father by discovering the cardiac abnormalities the disease (which they hadn’t even been diagnosed with at the time) caused. Also, the Olympic Priscilla not only was able to prove that she is NOT taking steroids, but discovered that she has extremely high cholesterol because of this disorder and needed to change her diet immediately. I can’t say that she would’ve never been diagnosed had Jill not reached out, but I do feel like she played an enormous part in Priscilla discovering this early. These types of interactions, if extremely similar to this one, could bring all kinds of discoveries and awareness to all types of disorders, including rare diseases that affect only a handful of people in the world, like Jill. I believe that this story should inspire us and uplift us. Jill is inspiring and amazing, and did HUGE things for everyone who suffers from Emery-Dreifuss and Lipodystrophy.
Jasmine Reich
Correction: “However, I do NOT believe Jill had all of the amazing opportunities with these notable people happened by chance.”
Original comment: “However, I do believe Jill had all of the amazing opportunities with these notable people happened by chance.”