Why Was Her Vision Jerky and Blurry if There Was Nothing Wrong With Her Eyes?

May 01, 2018 · 81 comments
Charlierf (New York, NY)
At least 20 years ago, I read of major projects wherein large databases of medical diagnoses were being developed to backstop practicing doctors’ limited knowledge and experience. Now I read of chaotic Google searches instead. Please NYT do some reporting on this. (Hmm, my word processor didn’t know “Google.”)
James Feldman (Framingham ma)
"emotional blindness" is representative of diagnostic errors made in female patients ascribing emotion, hysteria, anxiety to a serious organic disorder. Unfortunately, it is unlikely that those who made this error were informed about the correct diagnosis and thus had the opportunity to learn from this error.
Stevenz (Auckland)
When I was in college, the students who worked the hardest were in the physical therapy program (and comparable to nursing students, too). At many schools now, physical therapy is a six year program. I wonder if they are paid at least 86% as much as lawyers who typically go through seven years of higher education? (Rhetorical question.)
NYHUGUENOT (Charlotte, NC)
". I wonder if they are paid at least 86% as much as lawyers who typically go through seven years of higher education?" Hardly. My wife was well paid but not even close to an attorney's pay. When she retired she'd been a PT for 45 years and the hospital was in a sense happy because these new PTs (who like to call themselves, "Doctor") were making less despite the extra two years of school and the title.
common sense advocate (CT)
With all of the privacy concerns about our devices, it would be hysterical - or possibly health insurance-threatening - if my Google searches of myriad symptoms for these Diagnosis columns and for medical TV show repeats like House were being "watched".
paulie (earth)
You go to a specialist and have to do your own research? This guy was willing to cut someone open? This is not acceptable in any profession.
angbob (Hollis, NH)
Did not any of the medical experts think to run the young woman's symptoms through a database search? No, Doctor, your brain is not good enough.
Mike (New York)
What caused the black spot in the vision?
drdeanster (tinseltown)
Great question. The optic tract doesn't really pass through the area associated with a Chiari malformation, but some fibers pass through to the cerebellum to coordinate our motor functions with visual input. The full answer to your query should best be addressed by a neurosurgeon or ophthalmologist. Just not the one that has "emotional blindness" in their differential diagnosis.
Ellen (Cincinnati )
Emotional blindness? I wonder if the doctor would have misdiagnosed if the patient were male.
Stevenz (Auckland)
Fair comment. I didn't know there even was such a thing. I always thought "emotional blindness" was a metaphor. But let's say there is: Why wasn't there follow up for that condition, if for no other reason than to rule it out?
Patricia (Florida)
I'm disturbed by the number of commenters who are hammering at the doctors. This patient required highly specialized diagnostic and treatment skills. I am forgiving in situations like these. It's unrealistic to expect physicians to be experts in every disorder. I agree wholeheartedly with the criticism of the doctor who told her the problem was in her head. It was, indeed, in her head, but not the kind he was pushing off on her. It's deplorable how many in the medical field toss off symptoms that don't fit a mold, but to castigate the physicians who did not dismiss her, but did not have an answer, is unreasonable.
Norton (Whoville)
Patricia--You wouldn't be so forgiving if it were your life and health on the line. Trust me, I've been there, done that, almost dying as a result of not being properly diagnosed--and that was for a fairly common thyroid condition, never mind my zebra genetic disorder which was diagnosed decades after the fact (my early childhood years when it was starting to become obvious something was not right). I had two conditions and tons of symptoms and no one could figure it out--we're talking years when I was dismissed as a "mentally ill hypochondriac." Two serious conditions (including eventual thyroid cancer) were missed time after time after time, despite numerous red flags. I don't think anyone should automatically castigate doctors who don't have an answer, but you have to understand that pushing patients to the next doctor (who also is in the dark) means precious time, energy, and health lost for the patient. There's no excuse. This is the 21st century. It's ironic--most doctors don't want patients to Google/research possible conditions on their own, yet they don't have answers to serious health issues. Btw, the doctor who said "Chiari has no relation to Ehlers-Danlos" is dangerously ignorant--full stop. There's no excuse for not looking into things, even if it isn't "your" field of expertise. The mother had to do the successful footwork in this case--without a medical degree.
angbob (Hollis, NH)
"...the physicians who did not dismiss her, but did not have an answer..." What did they do to find an answwer?
Kate (Gainesville, Florida)
With a seriously arthritic hip joint I was given two expensive steroid injections and told by a physiotherapist that I needed to see a psychologist. During the second pain shot I asked the pain meds doctor (in the presence of his Resident) about an x-ray and was told that it was not needed since it was obvious that I had arthritis. Eight weeks later my PCP ordered the x-ray which showed end stage deterioration of the joint and I was scheduled for surgery. I can’t help wondering if a fit 50 year old male with the same symptoms would have received the same treatment.
Stephen Rinsler (Arden, NC)
@ Kate, Of course, the arthritis was the cause of the deterioration of the joint .
Stephen Rinsler (Arden, NC)
As a retired general pediatrician who sees patients once a week at a free clinic, I take lots of time with each patient and peruse online information commonly, seeking to understand what might be going on. It has become apparent to me that many common things don’t have a magic diagnosis at this time. We still are largely ignorant when it comes to biology and how organisms “break”. Even with the magic of artificial intelligence. I believe the physician’s primary “expertise” is acting relatively more effectively than the patient alone. But, certainly, a patient (or their advocate) who personally studies the patient’s “complaints” and seeks best information and resources is an enormous aid to getting to a good outcome.
KA (Pinehurst,NC)
My late husband, a Duke Medical graduate, used to often quote a teacher of young medical students, Dr. Eugene Stead. In presenting diagnostic difficulties, he would famously say, “What this patient needs is a DOCTOR.”
SQP (NC)
A friend of mine, now deceased, wrote that book, "What this patient needs is a doctor", referencing Dr. Stead, and they would offer that the most important piece of medicine is listening to the patient. Sadly doctors no longer have time to listen to the patient. A certain amount of time and attention is required to do that, and rarely does it still exist.
Pdianek (Virginia)
"The patient’s mother scoured the internet for a link between these two disorders. She came across several papers referring to a surgeon, Dr. Ulrich Batzdorf in Los Angeles, who described Chiari as a disorder that can be complicated by E.D.S. She called his office and was referred to Dr. Aria Fallah, a pediatric neurosurgeon at U.C.L.A. Mattel Children’s Hospital." These puzzling cases often contain a curious -- indeed, desperate -- person who, seeking answers beyond what's been said, goes the extra mile. How much better, though, had the dismissive physicians done so themselves, and from the patient's very first presentation.
Stevenz (Auckland)
Yes, but. It works both ways. How many people have been led down the wrong path by information they found on the internet? That can make a bad situation worse, and make intervention less effective by trying to get a misinformed but insistent person to take a step back from their own diagnosis.
Turbot (Philadelphia)
EDS can also cause occipital-cervical instability, which could be worsened by a Chiari decompression.
Chris (San Francisco)
With this patient's medical experiences in her background, I bet she will be a crackerjack P.T.
Albert (Miami)
Brilliant doctor. Sorry. I meant: Brilliant, doctor. The physician who diagnosed her is a master craftsman, something rare in today’s era of corporate medicine (I doubt he had a billboard listing his waiting room wait time).
Alper Paksoy (İstanbul)
I find NYT articles longer than necessary often than not, but this one really looks a bit incomplete, i.e. what happened to the doctor that attributed the symptoms to “emotional blindness” and how the surgery was accomplished.
Nanette Labradorian (Hartford)
Had the patient been male, would "emotional blindness" (whatever that is) even been a consideration?
Stevenz (Auckland)
I take the point about a negative bias toward females in this case, and largely agree. (I don't understand sending a 19 year old to a children's hospital, but any port in a storm, I guess.) But I don't see the value putting everything one reads through the lens of gender politics. (I would like an opportunity to be diagnosed with emotional blindness, too, if that's what I have!)
shan (ny)
pediatricians treat patients up to the age of 21
Carol (NJ)
Wow that a wonderful recovery and diagnosis
Charles Dibb (Boise ID )
Deducing the correlation between gravity, a subclinical Chiari malformation and a family history of EDS is what those of us who trained as diagnosticians hope will happen once or twice in a career. Bravo!
Cordelia28 (Astoria, OR)
With so much medical information available online, surely doctors should be able to use symptoms to search for possible diagnoses, even rare ones. It reflects badly on the medical profession that getting a correct diagnosis depends more on luck in finding the most knowledgeable specialist, rather than in all doctors using a widely shared, collaborative online manual for diagnosis and treatment. This young woman needlessly endured extra months of pain and danger when the answers were known - and should have been widely available to doctors.
Patricia J Thomas (Ghana)
When my child was 15 months old, her ankle swelled and she began to limp. Orthopedic surgeons ordered xrays and saw nothing . The limp got worse, and the muscles of her leg began to atrophy from the guarded way she walked. Orthopedic surgeons ordered the minimal types of imaging available in 1983, but still saw nothing wrong with the joints of her ankle. One even suggested exploratory surgery, which I refused. Six months had gone by and the leg continued to atrophy, and she still limped, and woke up screaming at night. Then I reminded my oncologist husband: "swelling and pain are signs of inflammation. Inflammation is an immune system response. I want an Immunologist to see our child." My husband spoke to an Immunology specialist he knew, who recommended instead a Pediatric Rheumatologist, a specialist in the problems of children's joints. The Pediatric Rheumatologist found that she had an atypical pauci-articular form of juvenile rheumatoid arthritis that was affecting the joint between her heel bone (calcaneus) and the next bone in her foot (talus) --which articulates with the bones of the ankle. Her symptoms responded to the NSAID Naproxen; she had no eye involvement, and was considered over it after her last eye exam at age 18. (By the way, there were no home computers in those days, but I had earned a PhD in Tropical Medicine and Parasitology in 1979.) My take-away: listen to the mom. I just wish the mom in this case had mentioned EDS earlier.
Jean claude the damned (Bali)
It only looks that way in hindsight
Stevenz (Auckland)
There are such databases and I suppose they are useful but they aren't complete, and the interactions are probably not perfectly known - heaven knows there are an infinite combination of causes and effects. There is a good chance that using this kind of tool can give false confidence in a diagnosis. Eventually it will get better but it won't replace a doctor who listens to their patients and takes them seriously.
Anita Larson (Seattle)
I’ve had experience with a pain doctor running multiple CTs and MRIs because of back pain after a car accident. He didn’t see anything wrong and told me multiple times that there was nothing wrong with me and that I didn’t need surgery. I kept telling him that the pain got worse when I bent forward but he ignored that. I then went to one of the top spine surgeons in town. First thing he did was order a standing X-ray with me bent forward. Turns out that the disc at L3-4 had blown out and when I moved, the two vertebrae were grinding on each other. It couldn’t be seen in all the imaging where I was lying down because my spine relaxed so the discs looked normal. I made sure to tell that pain doctor that the spine surgeon found the problem with a $100 X-ray after over $10,000 of of his CTs and MRIs. I told him this loudly, in his waiting room full of patients.
Puying Mojo (Honolulu)
More people need to call bad doctors out. I say ‘Brava!’
Rebecca (Seattle)
Working in setting that frequently involve mental health consultations to medical specialists-- I would suggest that a more useful heuristic is to develop interviewing strategies and models to "rule-in" psychiatric symptoms or emotionally-triggered conditions, rather than devolving to this as a diagnosis of casual exclusion. The presence of an 'emotionally-triggered' symptom, were that to be present, demands as much care in interrogating as a complaint of chest pain. (This is certainly how it would be approached in treatment in most mental health therapies). These shifts in stance require in many cases a bit more time than a 10-15 minute assessment, some degree of continued curiosity and usually a willingness to make face-to-face contact with a patient, rather than an EHR display
Stevenz (Auckland)
Hear hear.
Carey Bee (Los Angeles)
I would love to know more, or frankly anything, about the procedure the surgeon performed. Where was the incision made, what was done with the slipped brain tissue? The article feels incomplete.
PeteH (MelbourneAU)
There are a whole bunch of descriptions of the surgery available on the internet.
Sara (NJ)
What happened to the doctor who said it was emotional?? Would love to see some closure there!!!
99Percent (NJ)
1. What was the operation? Just cutting off the brain tissue, tucking it in? 2. How were the expenses covered, with what struggles? It would be so much better if important questions here would be answered by the reporter.
BigWayne19 (SF bay area)
...if important questions here would be answered by the reporter... ------- in real time, right here ! . . .
Jeanne Swack (Madison, WI)
The decompression surgery generally involves removing some of the occipital bone to enlarge the opening, removing the arch of C1, opening the dura and enlarging it with a patch. There are variations depending on the severity of the defect and on the surgeon.
anon (Nowhere)
Wow. I was told by my doctor a standing MRI doesn't help and wouldn't diagnose me. I'm rethinking that now. Thank you.
Frank (Colorado)
I cannot say enough about the value of an upright MRI. These machines are scarce in some places in our country; but they are essential to accurate diagnoses in many different kinds of cases.
Cynic (Queens, NY)
The normal operation for Chiari Syndrome enlarges the Foramen Magnum, which detaches Cranio-Cervical ligaments and further destabilizes the neck skull motion unit, leading to subluxation, especially in patients with underlying EDS. I hope that this operation included a posterior Cranio-Cervical Fusion, usually done with pedicle screws & contoured rods.
poins (boston)
if anyone had bothered to examine HER instead of just her MRI the correct diagnosis would be immediately obvious. but you're doing the world a disservice by suggesting that all those people with trivial descents of the cerebellar tonsils may have symptomatic Chiari 's, well done, your article will likely lead to lots of inappropriate surgeries which is already a tremendous problem. maybe you should focus an article on all the people who get surgery for things that aren't wrong with them
Vincent Bergin (Dublin)
Are you suggesting that the writer of the article should tweak the facts to get a diagnosis which fits better with how you feel patients should be treated?
Stevenz (Auckland)
There is a lot of information in this article that argues against your assertion that the diagnosis would be "immediately obvious."
rangiroa (california)
My initial thought in reading this case was: “How could they have possibly missed this diagnosis.” Chiari is the first thing I thought of when reading just the first part of the history. However, things are always obvious in hindsight. Rarely do parents come prepackaged with a clear and concise history as in a NYT article. If a lesson is to be learned by the initial treating physicians is to be curious and always listen to the patient- and particularly the mother! And realize that two rare conditions in the same patient are highly likely to be related. A simple Google search of EDS and Chiari would have directed them to consider an upright MRI. Google searches have been validated as an effective tool in diagnosing rare conditions. A word of caution. This story was published because it had a happy, tidy ending. It could have easily ended up with the patient severely debilitated after her surgery. Operating on patients with EDS is extremely risky and severe complications could have easily occurred even with expert hands. Undoubtedly if that had happened many comments would have castigated the operating neurosurgeon for being so reckless and to quick to cut. That’s the nature of neurosurgery: hero one day; scoundrel the next.
Stevenz (Auckland)
Your word of caution is valid, but the point of these articles is to illustrate the path that successful diagnoses take, and to give an indication of the whys and wherefores of analysis and not just to write a feel-good story.
Chanzo (UK)
“Batzdorf recommended an M.R.I. done while the patient was standing upright. The patient had noticed that her symptoms got worse while standing, [but] standing M.R.I.s are not widely available ...” This takes me right back to a letter I read in New Scientist in 2003: “In the 1920s, when X-rays were becoming common, physicians noticed that a surprising number of people had all their internal organs displaced downwards by some 5 centimetres. Surgeons devised an operation to shorten the suspensory ligaments and get the organs back in place. It had not occurred to them that the textbook positions came from cadavers that had been dissected on their backs, whereas their patients had been X-rayed standing up. No doubt lives were shortened as well as ligaments.” https://bit.ly/2HUoR7r Here we are, a century later, still making the same mistake. In this case, the response was to assume “emotional blindness”, while in the 1920s case the response was surgery for a non-existent condition. Both errors have their drawbacks.
Cynthia Starks (Zionsville, IN)
Awesome story. So happy there was a good outcome for this young patient.
Mickey Davis (NYC)
t could almost fall over after reading this. Modern medicine is more gorgeous than all the art in the world (well I must admit I've had this same feeling of ecstatic passion each time I've seen Michelangelo's David). So much for alternative medicine. Only evidence-based, intelligence-driven research can reach these sublime heights. Thank God for the brains he gave us and the people like these doctors (except for the one who invented emotional blindness, which I grant does seem to exist occasionally under different diagnoses and labels), who used those brains and practiced the best of real medicine. We need more of that in unlimited amounts if possible. Hurrah for doctors !
C.Z.X. (East Coast)
Hooray for Mom!
Angela Bedford (Berkeley, CA)
What a story; what a doctor! How brilliant of Dr. Batzdorf to think of the standing MRI. This story puts me in mind of the discovery of penicillin in that it took an exceptionally creative (and lateral thinking) person to see something of deep significance in that Petri dish. Dr. Fallah knew when to consult with Dr. Batzdorf - another great quality in a doctor. Last but not least, kudos to the patient's mother for researching the possible link between E.D.S. and Chiari and finding Dr. Batzdorf. Human beings can be truly amazing.
Jeanne Swack (Madison, WI)
She was lucky to have been sent to Dr. Batzdorf, one of the world’s leading authorities on Chiari malformations. My symptoms were initially dismissed and then I was misdiagnosed by a series of neurologists. Finally I contacted an expert neurosurgeon at the University of Chicago. I ended up needing the surgery twice, but I am so happy I found him.
KJ (Tennessee)
Luckily, her doctors regarded her as more than a medical puzzle. She was a person who needed their help.
Cathy (Hopewell junction ny)
When I first started seeing the capability of technology like Watson, able to scan plain language documents and use plain language commands, I thought of the power it would bring to medical doctors. Just have the computer read all the articles and give a condensed list to the physician of possibilities. But we have effectively used AI to put ads on computer for stuff I just bought, and used it to skew elections. We have done little to use it to bring expertise to a broad swath of medical people. Beyond that, I guess I just have to say I am appalled that anyone would be told that they have "emotional blindness" when just describing the symptoms brings up the possibility of the easily observed nystagmus. Any unexplained visual problem is most likely neurological, although some may be inflammatory too. But emotional? That ranks very low. Even our very small, one man operation has seen Ehlers-Danlos and sent someone out for testing. Part of the doctor's job is to refer people who have visual manifestations of a larger disease. And for the diagnosing doctors to look for the zebras when they found no horses. So why are we so inept at developing better medical tools, that might keep the doctors who have essentially thrown up their hands on the right path? Probably because we have not found a good way to bill the expense.
Moira Rogow (San Antonio, TX)
I think hubris is a big part of the problem too. My daughter was suffering from severe headaches and sinus infections. As soon as she was off antibiotics they returned. After going to one ENT, he had her practically in tears, as he told her he thought the problems were related to MS. She went to another ENT and he thought it was related to her horribly infected tonsils and deviated septum. They looked at the same scans!
Ryan (Denver, CO)
I've noticed a pattern in this wonderful series of attacking the health professionals who suggest a possible reason for a patient's symptoms is psychological. Yes, it sounds dismissive and arrogant to use the term "emotional blindness" in the context of this article when we know there is a medical cause for her symptoms. This doesn't take into account however the much larger majority of patients who do NOT have an underlying medical diagnosis with vague and difficult symptoms. For me the comments in this article highlight a much larger problem in our health care world -- the stigmatization of mental health. It is far more common that people realize to have symptoms brought on by stress, fatigue, PTSD, etc. We live in a world however where suggesting this to a patient is often met with outrage, negative feedback, poor reviews (which unfortunately become ever more important in our system)... It is much harder as a medical provider to suggest that stress is a cause of problems than it is to order unnecessary testing, scans, etc. In this article the eye specialist was clearly wrong -- however we shouldn't attack that person as being a terrible provider just because the cause suggested was psychological. It is one possible cause on a differential diagnosis, and a much more common cause than all the zebras this series highlights combined.
Sally (Vermont)
Always investigate symptoms thoroughly! My grandmother was told her problem was nervousness; her doctor recommended an ocean voyage. By the time her symptoms were so serious that she no longer could hide them from my mother, what turned out to ovarian cancer had metastasized beyond treatment. My mother was told that her back pain was not healing because she wasn't being smart about how she used her back. When the pain became so excruciating she could barely stand, my father insisted she see another doctor. A CT Scan revealed that breast cancer had recurred and metastasized. The back pain came from two tumors crushing a vertebra between them, just one of the horrors she suffered before her unnecessarily early death. My father, a 25 year prostate cancer survivor, was denied a screening because of his age. So it's recurrence and metastasis weren't detected until he, too, was crippled by pain. While the disease wouldn't have been treated, Hospice care would have begun months earlier, vastly improving the quality of his final days. My husband lost 40 pounds from starvation because two doctors wouldn't believe our description of his inability to keep food down. Only when an irate neurologist personally called the gastroenterologist to confirm that my husband's Parkinson's was not a factor and insist he listen to us was a proper diagnosis made: that the LES muscle no longer would open, resolvable with a simple surgical procedure.
Heloisa Pait (New York)
I remember wakng up from a surgery, looking at the surgeon, noticing the scruciating pain was gone, and crying of joy and relief and gratitude. It was not a rare or complicated case. It was just one more case of a right decision taken by a skillful surgeon.
Tone (NJ)
I’m green with health insurance envy! Who actually has an insurance plan that would approve these seemingly unnecessary (in the eyes of the insurer) tests and referrals? How likely is it that all these doctors and facilities (with the stand up MRI) are in network? What are the balance bills? Will this young woman be doomed to a life of poverty and bankruptcy? My diagnosis is that this case is an American fairy tale. In reality the patient was sent home with “psychological” problems and never approved for further treatment.
Gene B. (Sudbury, MA)
We are living in the long tail of the era of employer-sponsored medical insurance, and the almost inconceivable loophole of the ACA that allows children under the age of 26 to remain on their parent's insurance plan. This young woman's *parents* have good insurance, with reasonable copays and a broad network. The parents are likely wealthy also, as jobs that provide good insurance tend to pay well also. Do not assume that this story is fiction simply because it doesn't reflect your position in the have/have not economy.
dlhicks (US)
i believe you miss the OP’s point no doubt this is a real story of real events but how many people in this country would this sort of care not be available to? how much do we all suffer because of it? both financially and medically too (after all... diagnoses benefit with more samples to draw upon) It’s absurd really.. we have some of the absolute very best medical facilities and personnel in the world yet who gets to use these resources is limited.
Moira Rogow (San Antonio, TX)
What makes you think that would change with universal care? The care was available on one coast. What if someone lived in Montana or some other rural place? What are the facilities like there? I've lived in places with universal care. The care varies widely depending upon region, cost, etc. Universal care is not a panacea.
Kelly (Maryland)
A doctor tells a mother - who is using her all-powerful mother's gut that maybe the E.D.S and the vision are linked - tells her he doesn't think so. And that's that? Why doesn't this doctor go back and scour the internet just like this mother did? Why isn't this doctor interested to learn more rather than just feel safe in his knowledge? Doctors miss things and fail to make connections - that is human - but doctors who don't listen to their patients or advocates are stop learning, seeking answers really shouldn't be doctors any more.
M (Dallas, TX)
Emotional blindness? And thus are the health complaints of women ignored and dismissed. "It's all in your head" ... except then it turns out to be a brain tumor, this brain slippage, ovarian cancer, a thyroid problem, an autoimmune disorder, PCOS, or something else that could have been found if only anyone had bothered to take the patient seriously.
jb (ok)
My wife was on the phone with her dentist one afternoon, telling him a new crown had come off. He assured her that was impossible--she was looking at it in her hand! We talked it over, and she told me that if a woman were to tell most men how hard it is to get respect for their perceptions, we wouldn't believe that either. She's a physician, former chief of staff of a VA hospital, and I have seen her struggles from med school days- -a real education for me, I can tell you.
Sandy Flores (Phoenix)
"It's all in your head"...that's doctorspeak for "I don't know", a lamentable, deplorable choice of words for an otherwise intelligent person. Sure, doctors don't have the time and monetary incentive to do their own research, but don't discourage patients from helping themselves!
Anita Larson (Seattle)
I hope she took a photo of the crown in her hand and sent it to the dentist!
Jennie (WA)
I wonder if the connective tissue problem also affects how firm the brain tissue is? So that when she was standing more of it slipped down than in people without E.D.S. Rather like a jiggler can hold its shape while jello deforms.
Cathy (NY)
The weak connective tissues that often lead to this diagnosis are the ligaments that support the brain into the cranium and those that support the vertebrae at the connection between the skull and spine. That's what makes this surgery so tricky; it's like fixing a sweater made out of cheap wool. Your repair is only as good as the connective tissue that scars down. Often they have to use hardware to create needed support. Brain tissue by itself is very soft; we all need the dural membranes and ligaments to keep things in place. Sometimes they don't, and this is one outcome....
Neil M (Texas)
Another wonderful and interesting article. I am thinking why go to med school, just read these revealing articles. And yes, it is good you highlight that on line search can help and in this case - actually led to the right diagnosis and procedure. Some have commented below that this on line search reveals drawbacks in our medical system. On the contrary, I am glad so much information is freely available and accessible. For this mother, she was also lucky that she found docs who were not offended by this search. Just this morning, I was talking to a friend who described similar symptoms - I am no doc but I intend to pass on this article to him. Thank you.
Norton (Whoville)
First of all, I'm shocked that doctors would say there is "no connection" between Chiari and Ehlers-Danlos. There is a definite, well-documented, connection. When I read "Chiari" I knew right off that this patient probably had Ehlers-Danlos. The two conditions often go hand-in-hand. By the way, there's nothing "benign" about joint hypermobility. It can lead to early osteoporosis, frequent subluxations, and is a harbinger of significant connective tissue problems (as evidenced by the vision problems in this case). Collagen affects every single body part--and lack of collagen goes along with joint hypermobility. It's disturbing that, in this day and age, the medical profession is so obtuse about "zebra" conditions. There's no excuse to leave patients in the dark. It's frankly shameful, and this article only touches on that ignorance.
drdeanster (tinseltown)
Ditto. Connective tissue disorders are most worrisome when they impact the heart and aorta, causing leaky heart valves and aortic dissection. Patients with Marfan's are almost always plagued by these problems.
JudyH (FL)
Once again we read that a family member located the resource that was able to treat the patient. Our medical resources are so overburdened with useless healthcare paperwork that they are unavailable to provide medical detective work. The people who really suffer are those without the education, background, or technology to be a patient advocate.
Margaret E Jones (Indianapolis)
I have noted this also. As a >40 year RN, I have successfully performed this research for friends & family. I expect many, if not most, health care professionals do. People without this resource are at a distinct disadvantage.
Cathy (NY)
This is an excellent clinical example of the story of the elephant and the six blind men. In this case, it was a handful of blind doctors. Sadly, I don't think that paperwork is the problem. As an occupational therapist, I see parents seeking a diagnosis for their children's issues for years. When the problem is something relatively rare such as EDS, or a genetic disorder that isn't one of the more commonly seen types, it is often that the patient's problems don't fit the specialist's skill set. In other words, if their treatments don't work, then they refer out or come up with a reason for treatment failure that isn't "I don't know enough". It is the rare physician that will say that out loud or even to themselves. Hoping that this patient can make it through the physical demands of PT school and practice.