Read the Mother Courage article and the DIY scientist articles. What major ethical error did a doctor make in the Mother Courage article? How do you attribute the difference in insight between this doctor and that shown by Jill Viles?
Write your answers as a reply in the comments section
The neurologist who confirmed the diagnosis made a major ethical error. He berated Mrs. Furlong for having a second child. He criticized her for “not knowing” about Duchenne as it is a genetic disorder that is passed down through the family. He went on to tell her that “she could have “prevented the second pregnancy or could have aborted the second pregnancy” (as the young boy sat upon her lap). Mrs. Furlong learned later that she was among the 1/3 of cases where the mutation appears spontaneously. This fact made the neurologist’s behavior all the more egregious. Whether or not the neurologist believed everything he said to Mrs. Furlong, it was neither the time nor the place to express those opinions to a distraught mother.
The above neurologist decided to make incredibly judgemental comments to a patient based on imperfect understanding and knowledge. Further research and study reveals that in 1/3 of cases, the gene mutation occurred spontaneously. On the other hand, Jill Viles went through a rigorous, multi-year research process, deeply investigating every facet of Emery-Dreifuss and lipodystrophy. Through this rigorous approach, she was (amazingly) able to correctly self-diagnose herself (along with her father and Priscilla Lopes-Schliep) of a rare genetic disorder that all of the other doctors had simply missed or discounted. True scientific inquiry.
Next week will discuss some of the details of spontaneous mutations and how they occur. It is important to note that Muscular dystrophy is not an exception for conditions which often appear with no previous family history. Note especially that cases of a dominant condition that results in offspring who are so severely affected that they are unlikely to ever have children will be spontaneous.
The ethical error that the neurologist made was he criticized his patient for not knowing about the genetic disorder that was passed down through the family. The genetic disorder that Mrs.Furlong passed down to her kid is called Duchenne. Duchenne is a genetic disorder characterized by progressive muscle degeneration and weakness in the human body. This disease is a genetic condition that is coded on the mother’s X chromosome and is usually inherited. The neurologist told Mrs.Furlong, “There is no hope and no help- just take them home and love them”. In my opinion, this is a huge ethical error and it is not the place to tell a patient your opinion since it was not the proper thing to do as a healthcare professional. The neurologist also went on by telling Mrs.Furlong that she could’ve prevented the second pregnancy or had an abortion to prevent this genetic disorder. I also believe this is unethical since she did not know about this genetic condition which was coded in her DNA therefore this is no one’s fault and no one should be blamed for this condition.
The difference in insight between the neurologist and Jill Viles is vast. The neurologist made remarks that were illogical since he did not have as much knowledge about the topic. Even though Mrs.Furlong found out later that she was among the one-third of cases in which the mutation appears spontaneously the neurologist still insisted that she should’ve prevented this pregnancy by abortion. In this case, I think the neurologist needs more knowledge if they want to voice their opinion. This differs vastly from what Jill Viles has to say. Jill Viles went through a deep research process investigating Emery-Dreifuss and Lipodystrophy. Throughout all of her research she was able to diagnose not only herself correctly, but her father and the amazing Candian Olympian, Priscilla Lopes-Schliep. The main finding which I found astonishing is that the difference between Jill herself and Priscilla is the mutation of BHLHB2 and BHLHB3 repressor affects if a person is going to be extremely weak or extremely strong. Her research was able to correctly diagnose many people that many other doctors had missed out on. I believe her research was crucial since many people are now more aware of these genetic disorders and now doctors are more aware and can correctly diagnose their patients.
The criticism passed on to Furlong by a geneticist was incredibly inappropriate and unethical. The doctor clearly did not listen to Furlong’s story very well because no one in her family had shown symptoms and her sons had both been born by the time they exhibited signs of any abnormalities associated with Duchene. Furlong was a concerned mother who was continuously told she was imagining things even with her medical background. In comparison, Jill eventually had the “privilege” of stumbling upon scientific journals through the advanced resources her college enrollment granted her. This access to information allowed Jill to have a better understanding of what her condition may be and where the scientific community was in their understanding of lipodystrophy. With her new found understanding, Jill was able to reach out to doctors and speak their language, sometimes even unintentionally giving them the impression she was a med student or had an advanced degree. In addition to being able to speak the lingo, Jill was able to find ongoing studies of lipodystrophy which allowed her to have an avenue to gather more information and confirm her hypotheses. This was in stark contrast to Furlong’s story as well, Furlong had to pave her own way to convince doctors that her sons’ condition existed and that they should be doing research to better other people’s outcomes who are affected by Duchene. To me, the treatment of both women differs vastly due to the social norms and advancements of science in the time between the two started their journey in understanding the genetic mutations that hit close to home for them.
The major ethical error was made by the neurologist in Cincinnati. He told Furlong there is no hope and then proceeded to berate her saying it was her fault that she should have known better because it is a genetic disease and that when she was pregnant with her second son she should have aborted him. When Duchenne can actually appear spontaneously and that is the case in 1/3 of cases.
The differences between the doctors insight and Jill’s is vast. Jill was herself the patient and spent a lot of time doing research to come to the conclusion of her disease. While in Furlongs case she was a concerned mother and the diagnosis was much simpler. Also Jill had more information available to make her diagnosis and then eventually lead the conclusion of having the same gene as the Olympian just mutated.
Jill and Furlong both struggled with doctors and MD disease but they differed by Jill struggling to get a diagnosis and treatment and Furlong struggling to find a treatment.
The major ethical error made in the Mother Courage article was a doctor telling a mother that she should have aborted her child. That is never a doctor’s place to tell a woman to abort a child unless it is a danger to the mothers life and even then it is a woman’s choice, and Furlong did not know about the genetic mutation and had no way of knowing since the doctors around her had been writing her concerns off as crazy. The insight is very clearly different because Jill decided to have a child knowing about her genetic condition and the possibility of passing the gene onto her child, where as Furlong had no knowledge of the genetic mutation and no family history. There is also the matter that Furlong was not versed on Duchenne, so the choice to have or not have a child was not the same as Jill. Not only was Jill essentially an expert on her diseases, but she has also lived them and lived with them and knew that you can lead a full life with the mutation. Science and medicine is always changing, evolving, and developing new incite, so ethically, it is an individual’s moral right to choose.
I would also like to add that due to Jill’s studies in her diseases that she was fully aware if the mutation was passed, there would be no guarantee that the mutation was actually expressed or how it would affect her potential offspring. This is the major difference in insight between the doctor in Mother of Courage and Jill, the doctor was aware of the fatal course of the disease. While genetics are an important factor in decisions of this nature, the body is constantly evolving which may affect the mutation in a new way, or allow the body to work with the mutation. Genetic mutations were the reason for Furlong’s son’s disease, so why couldn’t they also be a cure?
One thing to consider that was not mentioned in the article is that Ms. Furlong’s two daughters might also carry the disease allele and if they have any sons, the sons may have the condition. However, now that they know about the condition, it would be possible to test to see if they are carriers. If the the daughters are carriers, one option is a technique called pre-implantation genetic diagnosis. In this technique in vitro fertilization is performed and embryos are tests for the disease allele. Those embryos which do not have the disease allele can be implanted. Thus the knowledge gained can prevent future cases. It should be known (and we will discuss this more next week) that while there was no past genetic history, there is reason to believe that there could be future genetic history, genetic history always starts somewhere.
I think one major ethical error the neurologist made in the Mother Courage article was that he told Furlong that “there is no hope and no help and to just take them home and love them. They’re going to die.” He also continued to tell her it was not a good idea to have two boys and she could’ve prevented the mutation in her second pregnancy after having her first boy with the mutation. I think what this doctor did was very unethical and that he could’ve helped Furlong from the get-go instead of making her feel so uncomfortable and empty-handed. I think it was very rude for the neurologist to tell Furlong to leave the situation with her sons alone and that she just needed to sit there and basically watch her sons die. He did not have the place to do that and he definitely could have helped her connect with other doctors in order to try and help her kids from dying instead of just leaving her by herself to try she save her kids. In the end, although her two sons ended up dying she never gave up fighting and she continued to look for a resolution or some type of cure for the Duchenne disease which I think kind of compares to Jill Viles who also didn’t stop until she confirmed her thoughts about her mutation.
Comparing the insight between this doctor and Jill Viles, the neurologist, in the beginning, did not have any sort of beneficial insight and somewhat neglected Furlong at the beginning of her journey which caused her to have to do her own thing. On the other hand, Jill did a lot of studying on her own, laid out her entire family tree, and reached out to a doctor with all the information she discovered which ended up all being true. The doctor who Jill reached out to also reached out to other doctors for help which Furlong’s neurologist did not do. Between the two articles, the power was always in the doctor’s hands, but with all the knowledge Jill Viles had, she seemed like she was full of more insight than the neurologist and she possibly could’ve helped Furlong out more than he did. I think doing one’s own research is very important and beneficial in situations like theirs. Unfortunately, Furlong was not as knowledgeable as Jill which would’ve helped significantly in her situation. Overall, I think that neurologists and geneticists should be extremely knowledgeable on the topics of mutations/diseases in order to help their patients and keep them from dying.
The major ethical error that the neurologist made in the “Mother Courage” article was when he bluntly told Furlong that her son has no chance of survival and there is no more hope. The neurologist insisted that they go back home and wait for them to die. Even if the chance of survival is slim to none, the neurologist could have handled that situation better. On top of that, without knowledge of if Furlong knew about her having a genetic mutation, he confronted her and stated that she should have aborted her son so he didn’t have to go through challenges with the disease. The neurologist assumed she knew about the genetic mutation within her family, however, he was foolish; the mutation came out of nowhere and surprised everyone. The neurologist instead should have came in with open arms to assist the family and find better ways to resolve the problem. He could have reached out to other doctors to see if they had another opinion on how to treat the disease. He left Furlong and the family feeling hopeless and upset, and Furlong probably lost some motivation to reach out to other doctors.
When attributing the differences between the neurologist in “Mother Courage” and Jill from “The DIY Scientist”, it is evident that Jill had much more motivation and purpose than the neurologist did. The neurologist seemed like he had no intentions in going the extra mile to help out Furlong and her son. Jill, with all of her insecurities with being skinny, decided to take it upon herself to discover what exactly is wrong with her. She had this self grit which propelled her to self diagnose herself with LITTLE medical background. The neurologist has so much education and experience in the health field, and he also has the job of helping people with medical problems, where Jill does not. I find it incredibly inspiring on how a girl at such a young age was determined and intrigued to figure out what exactly was happening to her, her father, and Priscilla Lopes-Schliep. She never gave up no matter when the doctors laughed at her and told her she was absolutely wrong. The neurologist lacked compassion and determination, and took the easy way out while lacking ethics.
When reading the Mother Courage article, there was a major ethical error when the neurologist was speaking to Jill Furlong about her son. His job as a doctor was not to make her feel guilty. This was a genetic disease that she did not know about, and other doctors had dismissed. She could have in no way prevented it and it was extremely unethical to have suggested otherwise and to have suggested she should have aborted or prevented her other son. He lacked compassion but to have gotten where he was in his career, I believe he should have known better than to say those things to this already distraught mother. When reading about Jill Viles I found it frustrating that her neurologist among other doctors did not take her diagnosis more serious. I understand there are cases when patients with little to no medical knowledge use Dr. Google and come up with there own diagnosis that may not be the case, but I still think it should be something to consider and take seriously. In both stories, the patients had to advocate for themselves because there health care providers were not properly advocating for them. Especially in Jill Viles case, she had obvious medical problems that they could not identify, I would think the neurologist would be open to suggestions and possibilities to help this girl.
The major ethical error by the neurologist in the Mother Courage article, was scolding the mother for having a second son. The neurologist assumed that Furlong knew the disease was in her family, but it wasn’t. They essentially blamed her for her son’s condition and didn’t want to help in any way.
The difference between the insight of the neurologist and that of Jill Viles is the willingness and determination to learn more, or being able to admit to yourself and others that there are things you don’t know for sure. Jill Viles had the impression that Doctors didn’t know what she had. She was determined to learn more and fill in the gaps that she thought they were missing/overlooking. Whereas the Neurologist just accepted that their knowledge was correct and complete.
The neurologist at the Cincinnati Children’s hospital is the one who made the major ethical error. Not only did he make an ethical error but failed to be a decent human at the same time. The neurologist told Pat Furlong that “there is no hope and no help” while referring to her son’s Duchenne disease. The neurologist also goes on to berate Mrs. Furlong, assuming that she had any awareness of the disease in the family, which turned out not to even be true. For the doctor to not only immediately place Mrs. Furlong at fault but to offer no help as well is quite alarming. Every parent’s worst fear is to hear that their child has something out of the ordinary going on and for the doctor to place that fear and blame onto Mrs. Furlong all at once is more than an ethical error, it’s an error of human decency as well.
I attribute the difference in insight between Jill Viles and the Cincinnati Children’s hospital neurologist to being more hopeful. Of course this isn’t a very scientific perspective but just the fact that a random mother from Iowa who happened to have a mutated gene knows more than a (hopefully) very well educated doctor says a lot. The doctor seemingly didn’t even give a second thought to berating Mrs. Furlong and just assumed there was nothing to be done for her child. Jill Viles was able to learn about her and her father’s conditions based on her own experiences and research even when it seemed as if her body was betraying her. The doctor could have done so much more if he’d been willing to actually have hope and lend a hand but decided to give up on the spot.
The major ethical error that the Doctor made was completely ignoring any thought that Jill had researched just because she was an “intern” and not a licensed physician. This closed-minded mentality is horrible error as it could have discouraged Jill enough to stop reaching out to other doctors and stop researching Emery-Dreifuss and lipodystrophy. Luckily Jill is thick-skinned and did not let this Doctor discourage her and she ended up extending her father’s life for almost 20 years, and also saved Priscilla from having a pancreatitis attack.
The difference in insight between Jill and this doctor is that Jill is open-minded and curious. This Doctor obviously is not, he has beliefs and that is it. But Jill was able to diagnose herself with a rare genetic disease and also confirm it through her genome in Italy all because she was open to all different kinds of diseases that scientists have studied. So I think the biggest takeaway from this article is to be open-minded and curious about science and you will be able to learn a lot more and be an overall better person.
The major ethical error that was brought up in the Mother Courage article was the belittling of Mrs. Furlong by the neurologist for having her children “knowing” she had this rare and poor prognosis genetic disorder. The neurologist scolded Mrs. Furlong in her decision to have her second child, that was so far out of this doctor’s scope of practice to say, let alone no human being should say to another human being you should have aborted you child. Mrs. Furlong had no prior knowledge of this genetic disorder, so her choice of having children was not affected by this disorder. Mrs. Furlong also made some questionable choices to try and better/prolong her sons lives, but it no recollection for the outburst of the neurologist.
In the case of Jill Viles doctor, they basically laughed and said there is no way that a normal citizen with no medical background would be able to correctly diagnosis such a rare disorder. While not the nicest thing a physician could say or do for their patient, it was within ethical means. Fortunately, for Jill Viles she was able to use her knowledge for good and was able to positively impact many other lives.
The difference between Jill Viles and the neurologist is that the neurologist used their position of power to verbal abuse a patient, while Jill took the criticism and did not lash out but continued what she knew to be right and brought it to the attention of others.
In the article, Mother Courage, the doctor made several ethical errors. He not only told Furlong that “there is no hope and no help,” but also blamed her for having sons. He continued to scold her that she should have been aware that the Duchenne runs in her family, though he refused to listen to her when she stated that there was no history of the condition within her family. Furthermore, the doctor went so far as to tell Furlong that she should have aborted her child. Not only was this statement highly inappropriate, but also who is to say or judge wether or not an individual should have a child. The doctor was morally incorrect, and in my own opinion, chose the wrong profession; I think the goal of a doctor is to provide comfort and care even when there are no known treatments for a given condition.
Regarding Jill Vile’s case, I was frustrated by how many doctors did push her away and refused to take Jill seriously. Based off her symptoms and the those of her family members, I figured doctors would be at the very least be willing and interested in to listen to what Jill had to say. Considering Furlong’s case, Jill had the advantage of prior research and tools to work with, she also had additional opportunities where doctors were actually willing to listen and to work with her. After her discovery of her disease, she again researched more about the lipodystrophy to which she had many resources and additional individuals willing to work with her versus Furlong being continuously neglected by all medical professionals.
This was a sad story. The Cleveland neurologist there was a few ethical error that he committed. the first one was that he said “There is no hope, no help-just take them home and love them. They’re going to die.” and the second one is that while she was holding her second son, “You should have known about this”, and he was very abusive in his speaking to Mrs. Furlong that “you could have prevented the second pregnancy, or could have a aborted the second pregnancy'”. This doctor was very unsympathetic towards Mrs. Furlong in fact that she just found out that her two sons were diagnosis with Duchene Muscular Dystrophy and was told by a doctor that there is no hope just go home and essentially watch her two boys die. She didn’t sat and watch her boys die, she did everything she could to help her sons to get into research studies and she started a Parent Project Muscular Dystrophy. She raised money for research to find a cure Duchene Muscular Dystrophy. The doctor was unethical in that he had no patients with that get detrimental news that means life and death to their children.
With the Mrs. Furlong article, she didn’t know about it being genetic and the fact that it came from the mother’s side until the neurologist told her all about it. With Mrs. Viles article she went through years years trying to find the right diagnosis for her condition. Many of the doctors thought of her as a nut job. When she came across an article about Emery-Dreifuss. She went to doctors to get diagnosis but was refused until she finally came across doctors in Italy that could find the DNA of the gene for the disease. So she sent all the paper work and blood from her family when she was 19. It took over 4 years for the results to come back but it showed that she and 4 members of her family had. It turned out to be a lamin gene in the DNA. Her father was 63 who died of heart failure. The disease cause heart weakness. Viles live with a family of her own with a son that does not have lipodystrophy or Emery-Dreifuss Muscular Dystrophy.
It is important to know that Ms. Furlong could not have known that her second son might have the disease since the first son was not diagnosed until after the second son was born and there was no previous family history. The doctor kept insisting that must be some family history, but there was none. As the article mentions it is not uncommon in this condition (and in other conditions) for there to be no previous family history. Whether he should have known it depends on his education, but he should not have been so adamant and has a duty to “know what he does not know”.
The article by John Colapinto personally raised a lot of questions for me when it comes to the medical field and the professionalism of some providers. Mother Courage: A family tragedy and a scientific crusade, illustrated a large ethical error that occurred during a diagnostic visit that led a family down both a dark and rewarding journey all at the same time. Pat Furlong, the mother of Patrick, had noticed weakened energy and an inability for her son to hold himself upright and similar features in her older son, Christopher. Being a nurse herself, Pat knew something was wrong but just couldn’t put her finger on it exactly. Pat decided to take her two boys to an orthopedist after noticing an enlarged calf on Christopher when he was just 6 years old. At the orthopedic appointment, after a physical exam was conducted, almost immediately the surgeon had put a diagnosis to this mystery. Duchenne Muscular Dystrophy is a rare genetic disorder that affects 1 in every 3,500 live male births and deteriorates the muscle mass throughout the body (Colapinto, 2010). Where did the doctor make an ethical error you may ask? Well shortly after diagnosing the boy, the doctor looked at Pat and reprimanded her because she had a second boy – telling her things like “you should have known this condition was genetic and having another child is only increasing your risk” and “you could have at least terminated the pregnancy”. Pat later learned that this was an even rarer case in which this genetic mutation actually occurs spontaneously. There are multiple reasons as to why what this doctor said to his patient was unethical. For starters, it is not a physician’s place to bring out personal opinions let alone suggest abortion and/or termination of a pregnancy and how that would’ve been best. Whether the patient knew about the genetic condition, it is not up to a doctor to tell a patient whether they should try for a child or not. Putting myself in Pat’s shoes, I couldn’t even imagine what went through her mind when she entrusted in a medical professional and they combat her rapport with unethical words and opinions. That is quite disturbing if you ask me.
In contrast, the article written by Epstein in 2016 discussed a vastly different experience. Jill was in fact the patient and not a mother looking for a diagnosis for her children. Jill conducted her own research to come to a conclusion of her own disease rather than relying on a doctor. Jill’s doctor took some matters into his own hands and actually reached out to other medical professionals for help whereas Pat’s did not. Jill overall had more knowledge on the situation and had done her own research in relations to her family tree and own diagnosis. If pat would have had a little more knowledge, it may have helped significantly.
What major ethical error did a doctor make in the Mother Courage article? How do you attribute the difference in insight between this doctor and that shown by Jill Viles?
A neurologist first told Furlong that there is no hope in her son’s prognosis, and then went on to scold her for not aborting her second son when her first son had shown symptoms. He also put blame on Pat Furlong for not knowing about this, since Duchenne is a genetic condition linked to the mother’s x chromosome. The neurologist not only put blame onto Pat but also disregarded the possibility of it being a spontaneous mutation. Also, French Anderson announced to a crowd that he would cure Duchenne in eighteen months. Making promises to a patient without knowledge of its actual success is an ethical dilemma. Jill Viles had the same drive as Pat and also went to a neurologist, but instead, it was regarding her condition also shared by her father and brother. The neurologist refused to even look at Jill’s papers and completely dismissed her belief that she had Emery-Dreifuss since it was believed only men could have it. Both neurologists had made assumptions based on previous cases, instead of listening to their patients. Jill later was proven right that she did in fact have this condition.
When discussing the diagnosis of Duchenne with Ms. Furlong, the neurologist made several ethical mistakes. One major mistake was “upbraiding” Ms. Furlong, and telling her she should have known the risk of passing on the condition, because it is genetic, and she must have had it in her family. This was unethical and incorrect since in one third of cases the mutation occurs spontaneously. It was also unethical and out of line to tell her she should have aborted the second pregnancy. Ms. Furlongs story was heartbreaking, but her strength, persistence, and dedication were really inspiring. The neurologist told her there is no hope, and there is no help. Although there is no cure, I think Ms. Furlongs actions show that is not entirely true.
The neurologists insight varied drastically from Jill Viles. While he stayed close minded, assumptive, and fatalistic, Jill Viles took the challenge of researching her condition head on. She did so incessantly, and took it upon herself to find out more about her symptoms, and challenged conventional wisdom. She was constantly denied support, but she went to great lengths to do the research that should be done. Despite not having any formal medical or scientific training she was amazingly able to diagnosis herself, an athlete she had never met in person, and her father, saving his life. Jill Viles worked hard, challenged assumptions, and was able to achieve real accomplishments.
The major ethical error that was made by the doctor in the article about “Mother Courage” would have to be the questioning of the mother for not knowing about the disease and that she should’ve known that Duchene Muscular Dystrophy was passed down through the family. The doctor also mentions that the mother should’ve had an abortion for her second son. These are major ethical errors by the doctor because the mother was trying to figure out what was wrong with her son and in finding out what disease he has the doctor stepped over the line and was rude to the mother instead of supportive.
The difference between Jill and Furlong would have to be that Jill decided to have a child while knowing about the genetic disease and the odds of her baby having it while Furlong had no clue that her child had that disease and was looking to find out what was wrong with her son.
In the Mother Courage article, the Cincinnati doctor scolded Furlong for having a second son due to her first son having Duchenne. He said she should have ended the pregnancy and that it was basically her fault that her son was suffering. This is extremely unprofessional and unethical for any doctor to do. On top of that, Furlong was just looking for help and instead of being sympathetic and saying that *he* wasn’t sure what to do, the neurologist told here there was nothing that *anybody* could do and said she should just give up on her boy’s condition and go home and be with them until they die.
This is a vast contrast from Jill in the DIY Scientist article. Jill has a muscular dystrophy disease and instead of giving up on herself and letting her unknown condition slowly kill her, she did a bunch of research on her own, and through the help of other scientist was able to figure out her gene mutations and help save some lives along the way. It’s ironic because you would expect a doctor to be the one to try and do research to figure out what the mutations was, and then the person with the mutation to not have the capacity to; but in these article’s it was the doctor who was convinced there was nothing to be done and the people affected that did the most to research and help find a cure.
The main ethical issue the doctor made was attacking Furlong for deciding to have another child, risking the possibility of passing on duchennes, even though 33% of the time it is a spontaneous occurrence. I have a family member with duchennes and even though his life is a continuous struggle no one would have wished he was aborted or never existed. It’s completely backwards to harass a traumatized mother for a decision she didn’t know she had to make. The correct thing to do would be to tell her there is a possibility that she is a carrier and let her access that how she wants.
First off let me just say wow! That was one of the coolest things ive ever heard. Jill is amazing. I recently watched a documentary on lipodystrophy about a family with the gene that had an even rarer form than they thought. It really makes me wonder about all the undiagnosed and misdiagnosed diseases out there. Its hard for me t think that that neurologist would not even consider looking at jills research considering it was 20 pages long. But in this case what he did was not unethical just incredibly dismissive to someone who you can visually see has a type of dystrophy. I am glad the lipodystrophy doctor listened to her and helped her to better understand the disease. Super cool stuff!
The doctor seemed to have an extremely poor bedside manner. He lacked empathy, he was very insensitive to the fact that not one, but two of Pat Furlong’s sons had Duchenne . In addition to this, he was very condescending in stating that the mother should not have had a second boy and should have had him aborted. There was no sense that the doctor even really cared about how the mother or her son sitting on her lap felt about the diagnosis. You think about how she could have even known before giving birth to her two sons, that they would have been diagnosed with it. Usually when it comes to diagnosing patients, it should be the doctor’s duty to educate patients and their families on the disease and to at least provide some sort of way on how to manage the disease.
On the other hand, Jill Viles was a lot more passionate about trying to find out what the cause of her disease was. She was determined and persistent with finding answers and an explanation for her condition. The difference between how she approached Emery-Dreifuss and partial lipodystrophy versus how the doctor approached Duchenne can be attributed to her own personal experience with living with both disorders and having a father who carried it as well. It seems like this factor made her all the more curious and determined to find answers.
In the Mother Courage article, after rather bluntly telling a mother that her children are beyond help and going to surely die, a doctor then proceeds to scold her for having a second male offspring. Even had his assumption been correct (which is only valid for ~2/3 of cases of people with this disease) that the disease runs in her family (and not a random mutation), assigning blame for the second case to her personally seems counterproductive and unethical, as the boys were so close in age that the major symptoms didn’t fully manifest to warrant diagnosis until after her son’s calf injury occurred. It would have been appropriate to warn her about the risks of future pregnancies, and the options available to her in that context, instead of telling her what she should have done. He then essentially told her to accept the idea that having that condition is a death sentence; he offered no actual medical treatment recommendation, stating that there was “…no hope and no help” for her two sons.
I am conflicted if I feel that awarding a patient with that “terminal” illness a pediatric heart transplant was ethical or not. To buy time for a patient, and probably not very much time, by granting an organ transplant that is in very short supply seems highly unlikely to grant enough time that a treatment will be developed. This article treats this event as a victory for this mother in question, but if the article was updated with the patient’s current condition or treatment outcome, we may not deem this a happy ending.
I feel it is most likely unethical that a doctor made a diagnosis, and subsequent referral, without actually examining one of the patients (perhaps for the mother’s convenience); Based on the article’s claims, the orthopedic surgeon treating only one of the brothers used that information (just the one brother’s physical examination), along with the mother’s statement that the brother’s are alike, to diagnose the other and issue a referral to a hospital for both boys. This doctor and Jill’s insights differ as the doctor only examined one family member (assuming the mother was not examined). He trusted the mother’s judgment in that her two boys must have the same condition, even without actually seeing one of them. Jill did in fact see her family members that shared her affliction. For her entire life she noticed details, trends of physical similarities (later we know they are phenotypes related to that disease). While she observed them in several individuals in her family, she also observed them in other individuals, even just by looking at photographs. Unfortunately, the genetic illness the boys had did not manifest itself with physical traits that can be seen in photographs or are easily detected upon physical examination (it took 3 days of tests just to confirm the diagnosis at the hospital). Instead, the lack of energy and physical activities, and similar behaviors, are a more telltale sign; therefore, who better to know this information than the boys’ mother.
In the Mother Courage article, Ms. Furlong consulted a neurologist early in the disease diagnosis process. The neurologist did two things apparently wrong. First, he misinformed Ms. Furlong that “there is no hope and no help,” which was not entirely true. Although there was little help in the 80s, the dire situation was the consequence of negligence from the medical establishment. Also, the lack of hope was mainly caused by the lack of research funding, not by the medical nature of the disease. For both reasons, the neurologist was dismissive of Ms. Furlong’s concern, without making efforts to treat her sons.
The second unethical conduct is that he accused Ms. Furlong of irresponsibly giving birth to two boys, as if she already knew the risk of birth defects. This accusation is problematic for two reasons. Firstly, the accusation relies on shaky assumptions that Ms. Furlong had other family members with the disease, that she knew she is a carrier, and that she intentionally produced boys with defects. As the article points out, however, Ms. Furlong is the first in her family to carry the gene, which is obtained through spontaneous mutation. Thus, the accusation has no scientific merit. Secondly, the job of a doctor is to cure disease, not to criticize the patients. Thus, even if the accusation is medically valid (which is not), it is inappropriate and unprofessional for the neurologist to upbraid Ms. Furlong.
Towards the rare diseases, the neurologist and Jill Viles hold sharply different attitudes. The neurologist was ignorant about the full scope of the disease and demonstrated zero interest in investigating it further. Jill Viles, on the other hand, invested years of serious efforts to understand the disease — learning the basic medical information, digesting cutting edge medical research, carefully observing and documenting her family history, and reaching out to medical researchers around the world.