Traveling in Vietnam, His Leg Swelled Terribly. Had He caught Something? (16mag-diagnosis) (16mag-diagnosis)

Sep 12, 2018 · 83 comments
DK (Cambridge, MA)
I would like to speak to what the author writes about the grandmother's perspective at the end of the article regarding Dr. Todd Turner: “He is the expert on medical information, and of course that’s essential. But I was the expert on my family, and that was important, too. Not every doctor is as open as Dr. Turner to that kind of expertise.” The reason why Dr. Turner embraced the grandmother’s Goggled diagnosis was because her diagnosis was completely consistent with everything published in the medical literature. Therefore it was a reasonable avenue to follow up upon. This is unfortunately not always true. I am not a physician, but I am a Ph.D. biomedical scientist with more than 35 years of scientific research experience. I have a neighbor who researches diseases online and comes up with things totally inconsistent with published science. For example, for one condition his most trusted source is a website published by a retired policeman and whose content is totally inconsistent with the peer reviewed published literature. My neighbor takes this as an example of the unreliability of the peer reviewed scientific literature. The grandmother did nothing more than provide family history, stimulated by what she read on the internet. Dr. Turner then used this information to order testing which enabled the diagnosis. Dr. Turner practices rational medicine.
Copse (Boston, MA)
This where failure to take the time to complete a thorough patient and family history is a contributing cause to poor diagnosis. Hooray for the grandmother. None of his providers did one.
Scratching (US)
Thanks for a great article, Dr. Sanders. Grandma knew best!
FlipFlop (Cascadia)
Did any doctor recommend lymphatic massage? From personal experience, I know it can be quite effective.
JN (Rhode Island)
As a physician and a person with secondary lymphedema--the literature has demonstrated that many of us with secondary lymphedema have the same genes as people with hereditary/primary lymphedema, which explains why some patients can tolerate a huge insult to the lymphatic system and others can not. While the syndrome in this scenario is relatively rare, primary and secondary lymphedema are not. They just are not recognized and are rarely treated effectively. And, insurance often doesn't cover the full scope of treatment of a lifelong incurable disease. There is a languishing bill in congress--the Lymphedema Treatment Act--that has strong bipartisan support. I'm a medical educator and primary care physician and until I developed lymphedema--I knew nothing about the condition. I'm glad you chose to highlight lymphedema--a common disease that is virtually unknown to most US physicians.
EMiller (Kingston, NY)
Wonderful story about physician and patient collaboration.
Passion for Peaches (Blue State)
How can someone leave a medical workup and not not understand the doctor’s diagnosis? “He didn’t write it down”? I get a printed summary of my medical appointments, which I realize isn’t true of all medical practices. I also have access to my records online. But to leave an appointment and not remember the word ”hereditary,” and not have the curiosity to research the condition you have? Unbelievable.
Martha (NY, NY)
@Passion for Peaches He was in a panicky state and we learn that all he really absorbed was that the doctor could do nothing. When you're that upset, someone ought to go with you to the appointment because you're not going to ask the right questions or understand what the doctor is saying. You just want a concrete plan of action, and since that wasn't available to him, he shut down. Luckily, his grandmother called the doctor. I'm surprised at your judgmental attitude because in the end, the young man had support and his grandmother could fill the doctor in on the medical background.
Shelly (New York)
@Passion for Peaches A 19 year old male. That's likely the reason.
Lisa (Boston )
@Passion for Peaches He’s a 19-year-old boy who heard “it’s not curable” and his brain shut down. The doctor really should have given him a printout.
Ben (New Jersey)
I accept the proposition common among outstanding internists that "a thorough medical history (which takes time and persistence to get right) is the single most important contributing factor in accurate diagnosis". Unfortunately, too many medical providers don't have or insist upon taking the TIME to get the history right. I have a vivid memory of my cardiologist asking question after question which I thought in my arrogance and stupidity were unnecessary. After what seemed like a million questions he NAILED the proper diagnosis which he then confirmed by an appropriate work-up. He was "old school" and understood difference between diagnosing by technology and diagnosing by listening and thinking. I was lucky.
Mary (Philadelphia)
When I first started reading this column years ago, these tales would turn with statements like, “then the doctor remembered a case she saw in medical school”, or “the doctor consulted with a colleague, who remembered a patient he once had with these symptoms.” Now, they almost always are resolved with the help of the internet.
Tessa W (Philadelphia, PA)
I wonder if Liz Taylor had this swelling. She had the mutation and a double set of eyelashes.
Joan In California (California)
I have double lashes but not the other conditions. Double and dark lashes tend to go with an Irish heritage. The old folksy expression was "eyes put in with a sooty finger."
AW (Buzzards Bay)
Consider Flexi touch lymphatic pump. The best pump on the market. Early use of the pump may re root his lymphatic system. It is better than uncomfortable compression garments.
Gaston (West Coast)
In a age of migration and loss of connection to older generations, this young man was very lucky to have a grandmother who had a family history and who could share it. This kind of story helps to underscore why at least some parts of family background should be available to adopted children. And the advice to seek genetic counseling also is a good one. A family we know has a grandfather with epilepsy, a daughter with something like cretinism, a grandson born with extensive cranial deformities, another daughter and cousin with breast cancer, and several grandchildren with anxiety high enough to require medication. Bad luck or bad genes?
Kathy Z (San Francisco)
I have lived with primary lymphedema in both legs for 44 years. It appeared out of nowhere one day when I was 11. There was no long plane ride, parasite, or anything else that precipitated it. I endured several years of invasive, sometimes unnecessary procedures before I was actually diagnosed. And at the end of all that, the treatment options were pretty much the same as today, compression stockings, elevation, and a low sodium diet. In the years since, I have had primary care physicians who have made clear they know nothing about the condition and can’t/won’t offer any help in managing it, and others who have been very knowledgeable and interested in helping. Yes, this young man didn’t get the “best” medical attention, and yes, perhaps he was incurious, but the fact is that all the curiosity and engagement in the world wouldn’t have changed anything. He is going to have this condition for the rest of his life. It may progress, as mine has. Maybe he will be lucky and it won’t. He will have good days and bad days, but it will always be there. I wish him well.
Inter nos (Naples Fl)
Thank you dr. Sanders for sharing this unique and interesting clinical case . It is important for any physician to get a complete patient’s anamnesis including family history and to perform an accurate physical examination , especially in puzzling cases like this . Unfortunately most physicians do not have the time to perform such tasks .
Lisa Sanders MD (New Haven, CT)
It is true that you need to collect as much information as is needed to make a diagnosis. It doesn't have to be at the first appointment. At the second appointment with the patient, Turner got enough family history to suggest an inherited cause of the swelling as his leading diagnosis. The boy's grandmother provided the additional history to speed a more specific diagnosis. This is not a story about a doctor who didn't do his job. To me, this is a story about how a timely diagnosis of a rare disease is made. Diagnosis is a team sport. The patient and his family are an important part of that team. Its not necessary to put down the doctor , who did a remarkable job, in order to appreciate the contribution of the family. Both were essential to making this difficult diagnosis quickly.
MGU RN (Atlanta)
The real message in this story is about a health care professional who did not communicate clearly to the patient. The doctor dropped the ball, his patient could not even convey the name of his condition to a concerned family member. Patients who come for medical visits by themselves are easily overwhelmed by medical terminology during typically brief visits. They forget to ask questions they had in mind and may not know what questions to ask about a new diagnosis. Medical encounters also have emotional aspects, as with this young person. All health care providers are supposed to know these basic tenets. Patients beware! When you are sick, take someone with you when you seek medical care. Ask them to bring a pencil and paper to take notes. If you are very ill, bring a trusted friend or family member who can advocate for you. Your life may depend on it.
m.pipik (NewYork)
@MGU RN When ever I see a new doctor I'm given 4+ pages of questions about my and my family's health history. The fact that the young man did not know important aspects of his family history and did not mention his history speaks to low esteem that we have for the medical profession in the US. Yes, young persons don't believe they will get ill because they are young--which is stupid. I'm sure everyone of them knows a young person who has/had a serious illness. However, where were his elders in all of this? Why didn't they early on give him his family history? Why wasn't an adult with him at every visit? As others have said, never go to a doctor alone when you are a difficult case especially if you aren't familiar with medical terminology. His grandmother was only half a hero. Why did she let him go alone?
Karen K (Illinois)
@m.pipik This was the father's mother. Where was fun dad? Good enough to travel with, but that's it? Luckily for the young man, the grandmother knew enough about her daughter-in-law to help fill in the gaps. My dil has chosen to keep herself removed from our family so I would know little about her if it should matter. Families are a complicated thing. If you have a doctor who doesn't play "team medicine" these days, listening to family members when (s)he should, find another doctor.
Sonny (India)
The doctor is after all a human being who studied and graduated.There are many things that he learnt and others that he picked up out of professional curiousity ,the more the better for him and his patients. All doctors are certainly not as capable as the better ones , the same like the follies of men . It's finally upto the quality of the human being .Most people have stories of doctors ,some good some bad . It goes without saying that the human body is an incredibly complex and complicated piece of machinery ,the study and research of which will always be a work in progress . With newer and more sophisticated diagnostics coming into the field , it is indeed a huge task not only absorbing all the new information but also understanding and applying the same .The situation is compounded by similarities in symptoms as also asymptomatic conditions. Similarly are all patients perfect in describing their symptoms and history . Happy endings involve one or both of the players .
Mary Ann (Seattle, WA)
Primary lymphedema is a little known disorder - there are usually precipitating factors for first visble onset - plane trips (drop in atmospheric pressure) is one of them. So are infections, often a local one, from a cat scratch or other. Amazingly, secondary lymphedema (caused by significant lymph node removal/irradiation for cancer treatment, was just shrugged off by doctors as "something you just have to live with" as recently as 20 years ago, despite comprehensive decongestive therapy having been known and used at the Foldi Clinic and others in Europe for ages. But American Medicine has a habit of thinking they're always on the cutting edge. It's not.
Polly Jiacovelli (Providence RI)
While working for years at a Lymphedema Clinic in NYC we often would see patients who had Primary Lymphedema that occurred for the first time after a long airplane flight.
Anna L (Oregon)
To all those complaining about the doctors' inability to detect the patient's cleft palate and failure to elicit the family history of leg swelling: Cleft palate occurs inside the mouth -- sometimes it occurs with a cleft lip, but it can occur without, and unless you look at the roof of the mouth, or the patient tells you, you won't be able to tell. It's hard to see the roof of a mouth and if a doctor isn't concerned about the patient's mouth, there's no reason for them to look for it. But shouldn't the doctor have learned about it from the patient history? It's amazing what people don't know, or don't think to tell their doctors. People with "no health problems" turn out to have had bone marrow transplant for childhood leukemia; people who "don't take any meds" turn out to be on the pill, or antidepressants, or meds for blood pressure, people who have "never had surgery" turn out to have had multiple c-sections, joint replacements, gall bladders and appendices removed (of course, other people think having a cut sutured counts as a surgery, so it works both ways). Family history is particularly difficult -- it's amazing how many people don't know why their grandparents or even parents died. Patients regularly report a history of "some kind" of cancer, and people just didn't talk about "female cancers" in the past.
Passion for Peaches (Blue State)
@Anna L, it sounds as if the patient was remarkably incurious, as well. Perhaps in denial about his leg problems and the possible implications. Therefore not forthcoming on the intake form.
GreaterMetropolitanArea (just far enough from the big city)
@Anna L Absolutely correct. All my life I was told that my mother's mother had "probably" died of cancer, "probably" breast cancer. With breast and cancer two words that were never spoken, no wonder her death in the 1940s remains shrouded in mystery. I have had to attempt to explain this in the tiny space provided on countless intake forms for decades.
Diane (Jersey City)
You might consider trying to get a copy of your grandmother’s death certificate, perhaps it might shed light on your questions.
Brighteyed (MA)
It's also curious that the swelling only occurred in one leg, not both legs. Maybe it required DVT in or some kind of physical interference to the right leg and severe physical stress that overtasked the immune system? Also, just because someone has a specific gene does not always mean that it will be expressed. Sometimes there must be certain epigenetic conditions or the condition could be more complicated requiring other genes, which can modify the severity or type of expression.
Meena (Ca)
Bravo for grandma! This however showcases the limitations of initial diagnosis. I think it is time for a Google doctor besides a primary care phycisian, listening in on patients and prompting questions. Imagine how many cases could be compared to the vast data base that already exists world wide. Then if it spits out possible problems, and tests, the next step could be redirected to specialists. Everyone would be happy about having explored all available alternatives thoroughly.
Steven Caplan (York PA)
@Meena And the google doctor, having had all the extensive and incorrect information given by the patient, would have incorrectly diagnosed and mistreated the patient. Bear in mind, in this case, there was a lot of misleading and outright false information
Mimi (Baltimore, MD)
Good thing Grandma was still alive.
Mr. Grieves (Nod)
Also, I was really sick as a kid. During a nine day stay at the hospital, I had stopped eating. The doctors decided to administer lipids—a thick, white liquid—through an IV on my forearm. It hurt immediately. My mom and I insisted something was wrong. The nurse refused to hear it and gave me Benadryl, probably to shut me up. Three hours later, I awoke to find my arm totally swollen. The vein had blown; apparently, viscous solutions should be administered through a PICC line. My mom was furious and blamed herself for not fighting back enough. It was a good lesson, though: Patients should question everything. Don’t stop until you’re satisfied. If you annoy them, too bad. We spend tens of thousands of dollars and significant amounts of time for their service. It’s their job.
S marcus (Israel)
A woman who has this condition or something similar wrote a book about it: The Family Gene: A Mission to Turn My Deadly Inheritance into a Hopeful Future by Joselin Linder https://www.goodreads.com/book/show/30653701 I haven’t read it, but I’m pretty sure this is the same syndrome or similar.
Mr. Grieves (Nod)
We overvalue doctors. Period.
Doctor (Iowa)
As more and more doctors get fed up with the insurance companies, lawyers, on-call duties, and comments like this one, we will continue to quit in increasing numbers. There is already a shortage, which will worsen. And when you need a doctor, and there isn’t one for you, please think back to this comment, and allow yourself to rethink it.
Passion for Peaches (Blue State)
@Doctor, while I agree that MG’s comment is off base, I am starting to feel that way myself. My frustration has nothing to do with physicians per se, but the way they are forced to work in this age of managed care and insurance-controlled medicine. How much can be accomplished in an 8-minute appointment? Write a script. Make a referral. Order labs and imaging. It can be a long, expensive trek for a patient who has a minor concern, but ends up being over-treated because the medical group is covering their potential liability. I’ve had numerous “incidental findings” that led to endless imaging and lab work. I’m not convinced it’s all for my benefit. And don’t get me started on doctors’ dismissiveness toward women of a certain age. Who likes being treated as an annoyance? So, for some time now I’ve been avoiding physicians and relying instead on Dr. Google and my own research (on nutrition, pain management and physical therapy). Last time I tried to see my primary care doc, I had to schedule a week ahead, only to sit in the waiting room for 40 minutes...before being told she had another patient to see before me (and she was still with a patient). That meant another 30 minutes at least, for an eight-minute appointment. I walked out. I know physicians are frustrated by these constraints, too. But understand where comments like MG’s come from.
Doctor (Iowa)
@ Passion for Peaches: You know why you had to wait for your doctor that day? 70 minutes, by your tally? Because the appointments aren’t really 8 minutes long, and that is because your doctor insisted on spending longer with patients, listening, answering questions, etc. At the end of the day—every day I imagine, because you seem to have had this occur before—your doctor is 70 minutes behind (at least), and that comes out of family time. You should appreciate your doctor every time they are late; it only means that they are taking necessary time with patients at their own expense. Or did you think that you were the only patient scheduled that day, and the doctor was out eating bonbons before your appointment? When I hear about patients like you walking out, I am so glad that they have gone, because it means that they don’t get the big picture. I advise you to go immediately to a new doctor that can stay right on schedule, and get you in and out in 8 minutes. Now, when you get your cancer recurrence, or some other weighty topic, you know what you will long for? Your old doctor, the one that stayed in the room longer when needed, and thus ran late every day.
Lisa Hickey (Brooklyn)
I just want to say that I not only love this column, I am incredibly grateful for it. When my 11 week old daughter stopped eating one night it was this column that led me to believe she had infant botulism, which indeed she did have. I was able to share that with her doctors and it saved her life. So thank you for this column!
Gretchen (Halifax, Vermont)
I find it interesting that the symptoms came on so suddenly. Suggests, but doesn't prove, that there's some trigger involved.
Mary M (Raleigh)
The swelling may have been genetic in origin, but perhaps stress from jet lag, binge drinking, diarrhea and vomiting may have brought on its initial occurrence.
linda (brooklyn)
how in the world could the doctor not have been aware that this young guy was born with a cleft palate?
Doctor (Iowa)
The patient may not have told him. Most patients leave much of their past history off of their forms. It is too much trouble for them to fill it out. Usually it is of no consequence—I can fill it in more fully as I continue to talk to them, and also many current issues don’t have anything to do with their prior issues, which the patients assume anyway, sometimes correctly. And, the doctor did know, eventually. The doctor knew, once the grandmother told him. And, cleft palates are repaired. You can’t tell without checking the throat. I always do, but many doctors checking out a leg would understandably not look in the throat. If they did, patients might object, and accuse the doctor of not listening to their complaints. “I went to the doctor about my leg, and he spent all this time checking my throat! I’ll never go to him again!” You get the idea. You focus initially on what the patient is concerned about. I will point out that _unusual_ diagnosis takes _time_. Not just a long session, but a diagnostic process over multiple seasons, as common things are eliminated, and the plot thickens.
C. Holmes (Rancho Mirage, CA)
@linda Uh, just a guess but I'd wager the patient didn't mention it or report it to him? This is a kid who left the consultation and didn't even remember what the doctor told him.
Anna L (Oregon)
@linda Typical new patient encounter: MD: "Do you take any medications?" Pt: No MD: "Have you ever had any surgeries?" Pt: "No, I've always been healthy" . . . . a few moments later . . . MD: "Tell me more about your abdominal pain. Ever been told you have gallstones?" Pt: Oh, I had my gallbladder out 2 years ago. MD: And what about your knee pain? Pt: I just feel like I never got back to normal after I had it replaced. MD: And what are you doing for contraception? Pt: Oh, I'm on the pill
tekate (maine)
Fascinating. Thank you for the article Dr Sanders.
BBB (Ny,ny)
He was dismissed as having early signs of varicose veins? Seriously? And then doctors wonder why we don’t trust them? And they get mad at us for using google?
Lisa Sanders MD (New Haven, CT)
The patient did have early varicose veins. It is a common cause of swelling - much more common than an inherited gene that leads to swelling. To me this seemed like a perfect collaboration for a diagnosis. A diagnosis is always a collaboration between doctor and patient (plus sometime patient advocate). Although it wasn't ascertained on the first visit, the first internist he visited - who was also an infectious disease subspecialist - figured it out by the 3rd visit. Pretty good for a rare genetic disease. And it was Turner who first suggested the possibility that this was an inherited disorder. I think he did an outstanding job and so did the grandmother!
Jeff Cohen (New York)
The patient's indifference to a potentially dangerous condition is troubling. He is old enough to start paying attention. His grandma won't always be there.
Just Me (on the move)
@Jeff Cohen Yes he is but 19 is the new 13.
Fiorella (New York)
@Jeff Cohen Common defense mechanism. Especially as society teaches us not to "fuss."
mml (ca)
Always try to have a second set of ears and eyes at your medical appointment especially during unusual symptom expressions. Young people under stress need someone to listen and interpret with them.
Just Me (on the move)
@mml Part of the issue with declaring teenagers adults at 18. Brain is not functioning as an adult for most.
Elise mills (Ca)
And older people can benefit greatly too - especially if they don’t hear as well as they used to or if there are any memory issues, etc.
Just Me (on the move)
@Elise mills We always have someone else to hear what the doctor is saying ,take notes and ask questions. My experience with my older mother and younger son is that do not want anyone else. At least my son realizes the importance of having a list for discussion at the appointment.
VideoAdventures (Los Angeles)
Thank you for this article. And I want to thank, Brighteyed. I copied and will read the articles. In Syria, I experienced a gradual swelling of my lower legs. Perhaps an overdose of salts and food additives, perhaps other causes. Returning to the US, a clinic nurse looked at the legs, heard fluid in my lungs, ordered me to emergency treatment. I refused. I didn't have the $1,600 to walk in, then the thousands for tests and treatment. Instead, I purged with water, took diuretics, ran miles in the mountains, deleted salt from my diet. Over the years, the swelling went down -- yet returns when I do not wear compression socks and boots. When I had malaria in Kenya, infections at the points of the mosquito bites ate holes through the edema-swollen flesh. Hospital treatment for malaria and the infections stopped that. Months passed before skin grew over the holes. The edema continued and continues. Last week in Costa Rica, I worked predawn to midnight. I slept in my compression socks. With the weight of equipment and the distance I walked, my legs swelled and my feet ached somewhat. Aspirin helped. The edema is a problem. Chronic. But not a life-stopping condition.. Anyone experiencing the problem can deal with it. If you can afford doctors, good. If not, deal with it on your own.
Stephen Rinsler (Arden, NC)
@VideoAdventures The same symptoms in other patients might reflect heart or kidney failure and actually be “life-stopping”, contrary to your own individual experience. I congratulate you on being lucky. Stephen Rinsler, MD
AC (Durham)
Go Grandma!!! I wish physicians would listen more. This lady got it right, he had the medical knowledge but she was the expert on her family. I've always had a crazy high pain tolerance so when I was 11 and complained of a stomach ache, my mom brought me to the ER. Doctors tried to dismiss us but my mom was resolute that something was wrong if I was complaining of any kind of pain and refused to leave the hospital. Finally, as what I can only imagine was the last resort to get her to shut up a doctor decided to do "Exploratory Surgery" that meant cutting an 8 inch incision on my lower stomach.... where they found my appendix was rupturing. Had my mom been the type to listen to authority I'd be dead.
JKO (NY, NY)
Smart Mom!!!!!!!!!!
Mr. Grieves (Nod)
Wow. That’s terrifying, infuriating, and inexcusable. My mom would have done the same thing. A lot of parents wouldn’t.
Seb (New York)
It’s not always about listening more. Yes listening is Important but what is there to listen to when the patient doesn’t say anything or obviously doesn’t know anything about himself. Do you really think he knew that his mother suffered from something similar when she was pregnant? Especially when swelling is so typical in pregnant women? Do you really think it was medical negligence when this kid went to so many different doctors and no one was able to figure it out? Or could it be that the patient was not very forthright/it was an extremely rare case? The doctor bashing on these comments is really sad, not every doctor is perfect, but to paint with a broad stroke is not appropriate. If one doesn’t feel comfortable with a doctor why not just go somewhere else?
Charlesbalpha (Atlanta)
He said he heard a medical word "starting with H". It turned out to be "hereditary", a word that comes up in almost any discussion when a disease is mysterious. This patient doesn't sound too bright.
Irishgal (Chicago)
@Charlesbalpha Really, you needed to say that? We learned in kindergarten, 'is that a helping thing, or a hurting thing.' Choose wisely
Ellen (Missouri)
@Charlesbalpha Sometimes frightened, stressed people don't process things well.
Ajax (Florida)
Wow. What a medical detective story. Leave it to Grandma. You'd be surprised what historical medical tidbits can be picked up from the family tree.
Barbara (Boston)
Go, grandma! "He is the expert on medical information...[b]ut I was the expert on my family..."
Anon N 1 (Japan)
"back . . . in Boulder . . . . he was sent for an ultrasound of his leg . . . long transcontinental flights . . . can cause clots to form." Going for that ultra sound after he got back would be a little late if his swelling was actually a symptom of thrombophlebitis wouldn't it? I believe prompt treatment is recommended for economy class syndrome (deep vein thrombophlebitis).
CL (Paris)
Doctors - there's a thing called Medscape. Try it sometime. You aren't superhuman. https://www.medscape.com/viewarticle/568789_4
SML (Vermont)
Hooray to Grandma for taking the initiative to do what the medical specialist doctor should have done. But it should have been up to the doctor to recognize that his off-the-cuff knowledge was limited and research further the disorders associated with this condition. And when dealing with any hereditary condition, a doctor should always take a thorough family history. As with so many instances in health care these days, if you don't watch out for yourself, question everything, and do your own research, you are very likely to receive substandard care.
Confused (New York)
@SML This article was so depressing to me. I just don't understand why doctors don't feel it is their responsibility to investigate until they find a diagnosis. If a grandma with presumably no medical training could simply google hereditary possibilities, couldn't the experts? Regarding knowledge of the family, they could have taken a very detailed family history. Heck, the cleft palate of the patient himself would probably have been enough. Time after time, doctors think it is sufficient to send patients away with a diagnosis of "idiopathic this or that" and be done with it. And here, here the doctor even suspected it was a hereditary condition but couldn't bother himself to go the next step and figure out which one the patient had. I'm so tired of this.
Mr. Grieves (Nod)
It’s a sobering reality, and most people haven’t caught on.
hjc (Boston, MA)
Right - and either the young man's plastic surgeon did an incredible job on his cleft palate or this specialist didn't even look closely at his patient's face. (It sounds like the young man was kind of disinclined to actively participate in his care, but surely he was asked to complete some intake paperwork that would have asked about surgical history; one wonders if he reported it there.)
rich (hutchinson isl. fl)
I want my doctor to be a scientist and to have access to Watson, the IBM machine that reads, understands and collates thousands of medical papers every day. Good bed side manner is optional.
Brighteyed (MA)
Lymphedema distichiasis is strongly associated with primary venous valve failure and venous reflux disease which have a few possible therapies like Endovenous Laser Therapy (EVLT) if the vein is superficial. It's curious that food poisoning symptoms occurred right before the FOXC2 symptoms. https://www.ahajournals.org/doi/abs/10.1161/circulationaha.106.675348 https://www.usaveinclinics.com/venous-reflux-disease/
Elena M. (Brussels, Belgium)
@Brighteyed "It's curious that food poisoning symptoms occurred " You know, it could have been just a coincidence. Combination of jet-lag, exhaustion, heat, exotic food... It sure didn't help with diagnosing what was wrong with the patient though.
cheryl (yorktown)
@Brighteyed The food poisoning, along with the travel. also was a red herring instead of a red flag. Altho -- who knows but that they did set off a cascade of events which triggered his first presentation of the "H" disease.
RPM (North Jersey)
@Elena M. And alcohol.
Patricia (Pasadena)
Patients who go on the Internet can annoy doctors. But it can help the patient help the doctor. Doctors don't have time to do all this Internet searching themselves. Hooray for the grandma for contributing her own labor. And now let's stop making jokes about grandparents and the Internet please.
Stevenz (Auckland)
@Patricia. The grandmother of a 19 year old would have had most of her life to use computers routinely.
Stephen Rinsler (Arden, NC)
@Patricia It is a fundamental part of a physician’s work to be aware of his/her ignorance and to check for further information out there. That might involve searching the literature online, rereading a textbook (gasp), talking to other physicians or seeking a consultation for the patient. No time doesn’t cut it. Stephen Rinsler, MD
Susu (Philadelphia)
@Patricia I believe it took me 30 seconds to google “ swollen leg and hereditary disease.” Make an internet search a billable item, and perhaps there would be fewer mysteries. Perhaps we need three open-access, searchable databases: one for drugs and their complications, one for hereditary diseases, and another for nonhereditary diseases. Physicians could bill separately to search each one.
common sense advocate (CT)
Brava grandmama for focus and insight - the most wonderful, brilliant people come in extra-caring packages.
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