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Have Pain? Are You Crazy? Rare Diseases Pt. 2

The views expressed are those of the author and are not necessarily those of Scientific American.

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Wretched - Piers Nye

“It’s all in your head,” patients with unexplained pain or unexpected symptoms often hear.

My recent post on rare diseases and pediatric pain clearly resonated with a number of people, prompting my immersion in the medical literature and speaking with some experts and patients about these topics and about the difficulties patients with atypical symptoms face.

Rare Diseases

“Rare” diseases cover a variety of illnesses—about 6,800 different ones, according to NIH, each affecting fewer than 200,000 in the U.S. While each disease alone is rare, together they affect almost 30 million, or about 1 in 10 people, just in the U.S. Globally, estimates are that 350 million people have rare diseases. Most of these diseases have a genetic basis; 95% have no approved treatment. Although the Orphan Drug Act was passed in 1983 to stimulate drug development by providing hefty financial benefits, only 326 new drugs have been marketed for these conditions since then, as they are generally not a profitable enough pursuit. (For an exception, please see here on how a drug for Gaucher’s disease was exploited by Genzyme).

Some of the diseases you may have heard of are connective tissue diseases or cystic fibrosis, or phenylketonuria (PKU), because newborns are screened for those. Others are the more recently recognized mitochondrial diseases and pain syndromes of complex regional pain syndrome (CRPS, previously known as reflex sympathetic dystrophy, or RSD). There are more than 50,000 new cases of CRPS annually in the United States, making it a more frequently occurring condition than multiple sclerosis and comparable to Parkinson’s disease, yet receiving a fraction of the attention.

The lack of recognition of many diseases has huge consequences. For example, in one survey, it took patients in the US an average of 7.6 years to be properly diagnosed, after visits to 8 physicians. During that process, they received 2-3 misdiagnoses. Two thirds had to get financial help from charities or public assistance, among other financial difficulties. Unsurprisingly, 75% complained of depression, and 86% of anxiety and stress.


Each of the teens I wrote about last month has conditions that can cause severe pain. This is commonly misdiagnosed as a “somatoform” or “conversion” disease—symptoms unexplained by medical diagnoses—causing further damage to the patient. For example, as I mentioned last month, Justina Pelletier was taken away from her family and kept in Boston Children’sHospital psychiatric ward for almost a year, because the hospital reportedly thought her symptoms were psychiatric rather than “real.” Justina’s family and physicians are under a gag order by the court, so we can’t learn more now.

Sick Chick's feet

Since writing about Justina and Rose, I’ve spoken with “Sick Chick,” a teen with chronic pain that was also misdiagnosed for some time. At age 11, Chick developed severe, incapacitating knee pain abruptly, without a prior injury, which is a common precipitant. Then she developed patchy loss of sensation. Her foot turned blue and cold. She saw multiple doctors trying to find out what was wrong, including a pediatrician who said “it didn’t make sense so it must be in her head.” When asked how she could make her feet different temperatures and colors, he replied “There are Swamis in India who can do that.”  After being diagnosed by multiple doctor’s with CRPS, she saw a neurologist, who immediately said she didn’t have CRPS and, in only a 30 minute appointment, diagnosed her with a conversion disorder (where symptoms are thought to have a psychological, rather than physical or medical cause). Chick says, “It made me very scared that it could be” this, “but I knew this was real and I wasn’t imagining the pain…Now I’m really angry [about that].”

Sick Chick"s Pain - location and type

Since then, Chick has traveled cross-country for care. She went to one inpatient rehabilitation unit where she says the therapist initially took her crutches, threw them across the room, and told her to go get them. Surprisingly, she seems less angry with them than I might have expected, as the intensive physical therapy did result in her regaining her ability to walk. The following year, the RSD spread to her other knee, and she was hospitalized again at a different rehab center. By this point, she had also developed symptoms of postural orthostatic dizziness and tachycardia (POTS, or Postural Orthostatic Tachycardia Syndrome) and dysautonomia (a malfunction of the autonomic nervous system that can cause unstable pulse and blood pressure, leading to fainting spells and GI symptoms, among other). ).  These symptoms were explained away as anxiety and the possibility of conversion disorder was again raised, rather than their looking for a medical explanation.

Hearing Sick Chick’s story, I wondered if, had she ended up at Boston Children’s, she would have ended up on the locked psych ward because her parents, too, could have been accused of “doctor shopping” and medical child abuse.

Instead, Chick finally kissed the right frog, and found her prince—a caring, observant physician, who made the correct diagnoses, finding that she has Ehlers-Danlos syndrome (EDS), historically viewed as a connective tissue disease causing extremely hypermobile joints, but now known to be far more complex. She is now getting appropriate therapy for her CRPS, EDS, and other associated syndromes.

Conversion Disorder and CRPS

Hearing these and other similar stories, I studied these syndromes further. I first turned, as I frequently do, to UpToDate, an on-line subscription resource. The chapter on pediatric CRPS is written by Dr. David Sherry, a professor of pediatrics at University of Pennsylvania. Dr. Sherry has recategorized Complex regional pain syndrome (CRPS) as an “amplified musculoskeletal pain syndrome (AMPS).” He states that CRPS “is characterized by extreme pain in a limb out of proportion to the history and physical findings, accompanied by one or more signs of autonomic dysfunction.” He adds that conversion symptoms are “not uncommon.” Yet CRPS is characterized by severe pain, induced by normally non-noxious stimuli (allodynia), edema, cyanosis (bluish purple discoloration typically seen with poor circulation), and excessive sweating. Skin and nail changes are common. In adults, CRPS frequently follows injuries such as fractures (1-2%), especially in women; precipitating injuries are less common in kids. CRPS is one of the few pain conditions that can be diagnosed with objective signs (temperature asymmetry, color asymmetry, abnormal hair and nail changes).

Sherry recommends intensive physical therapy for hours daily daily without offering these children any pain relief. “The treatment starts at the first visit with confirming the diagnosis, discontinuing further medical evaluations, stopping medications for pain (these 2 steps are sometimes much harder on the doctor than the child)…It is important that the team is confident in its ability to cure these children, tolerate the child’s pain, be genuinely interested in these children, and understand each other’s roles and positions because both the child and parents are prone to try to split the team by playing one member off another.” When asked about not providing pain meds, Sherry responded, “There is no good data that medications work. The most recent Cochrane analysis do not support the use of medications…Most children do not do well with medications, have a lot of side effects and they are expensive.”

I also learned more about conversion disorders. These are said to occur when there is some sort of unconscious psychological conflict which can’t be adequately expressed, and becomes “converted” to a physical symptom. By definition, it is unconscious, rather than deliberately factitious or malingering.

Sherry lists conversion symptoms his clinic commonly sees, including in them involuntary muscle spasms and “Fainting and lightheadedness, often called postural orthostatic tachycardia syndrome (POTS) or dysautonomia.” He says “Up to 40 percent of children with AMPS will have at least one conversion symptom.” Sherry adds, “The vast majority of these symptoms need to be ignored since calling attention to them tends to make them worse.” Of note, POTS and dysautonomia are well recognized medical conditions that can be objectively tested (e.g., Tilt Table Test, orthostatic vital signs). These conditions are often treated by cardiologists and neurologists.

The Psychiatric Association definition, such as it is, of conversion disorder, in DSM-4, states “The symptom or deficit, after appropriate investigation, cannot be explained fully by a general medical condition.” Yet Sherry has said, “Once the clinical diagnosis of CRPS is made, it is counterproductive to do further studies, as they delay treatment and put doubts about the diagnosis in the mind of the patient and family.” But if you don’t do a thorough medical evaluation, and base a diagnosis on subjective impression by a clinician, how do you know that there is no underlying physiologic explanation?

A review of studies on conversion symptoms found a misdiagnosis rate of 29% in the 1950s, 17% in the ’60s, and 4% since the ‘70s. While the decline is reassuring, it still a substantial number and leaves considerable room to wonder how many unrecognized medical or genetic illnesses causing odd symptoms are still missed.

The new definition of somatic symptom disorder is similarly troubling:

1. One or more somatic symptoms that is distressing or results in disruption of everyday life

2. High level of anxiety about health or symptoms

3. Excessive time or energy devoted to these symptoms or health concerns

4. Symptoms persisting for 6 months.

Even the physician who chaired the DSM-IV and DSM-IV-TR committees on Pain Disorders, Stephen King, is troubled that the criteria risk mislabeling many people as mentally ill when, in fact, more likely they are suffering from mismanagement of their pain.

A different perspective on CRPS and pediatric pain

On the one hand, we have the focus on psychiatric interpretation of complex symptoms. After having been immersed in the Markingson case over the past year, and the abuses by psychiatrists in schizophrenia drug trials, I am perhaps a little cynical here. I am reminded, too, of the creation of osteopenia to market more drugs (see Drugs in Search of a Disease).

Not all physicians believe in the psychiatric explanation for CRPS or pediatric pain commonly being due to conversion disorder. There is a non-profit organization I have become familiar with called The Coalition Against Pediatric Pain (TCAAP). They have a number of videos on their site (and YouTube) from an interdisciplinary conference last year focusing on Ehlers-Danlos syndrome. While this used to be viewed primarily as a problem of loose joints, EDS now has many overlaps with CRPS, as well as associated with neuropathies, POTS, and migraine. Dr. Pradeep Chopra, a Harvard trained pain specialist and Assistant Professor at Brown University’s Medical School, and head of TCAPP’s medical advisory board, told me that there is a “huge component” of autoimmune diseases and that the “joint problem is the least of the issues” in EDS. Many of the children he sees with Ehlers-Danlos present with CRPS. Most notably, he observed, “I’ve never seen a child with conversion disorder.”

Similarly, Dr. Richard Barnum, a child and adolescent forensic psychiatrist formerly with U. Mass and Harvard Medical Schools, spoke at the TCAAP Think Tank. He, too, believes that conversion disorder, if it does exist, is very uncommon. He noted there that patients experience a “diagnosis” of conversion disorder as an accusation of dishonesty, and that it leaves the real problem untreated. Further, such labeling doesn’t ever lead to effective treatment and is very destructive, driving kids away from seeking further medical or psychiatric care.

I am troubled by other aspects of Dr. Sherry’s “boot camp” approach to treating children, particularly in not allowing children to receive any pain meds despite hours of intensive physical therapy. As a parent and occasional patient, myself, I find such an approach unconscionable. I worry, too, that as his approach is more widely adopted, it will lead to more children being taken from their parents as happened at Boston Children’s Hospital. Frighteningly, what happened to Justina is not unique.

Dr. Pradeep Chopra

In contrast, Dr. Chopra recently received the Compassionate Caregiver of the Year award from the Schwartz Center for Compassionate Healthcare, based at Massachusetts General Hospital in Boston. Regarding his award, Chopra said, “I’m providing these patients with a sense of hope. [Telling them] you’re not alone. I’m not going to send you out with a piece of paper, I’m going to send you out with something more precious than that and that’s hope.”… “These are powerful “medicines” that we don’t use. Spiritual validity, love, providing hope. A smart physician can always say, I don’t know what you have, but I’m going to find out, or I know what you have but I don’t know how to help you but I’m going to try. Whether you come up with an answer or not, a patient leaves the office thinking ‘I have someone smart who is there to care for me.’ That is what compassionate care is all about.

As a physician, I understand the frustration of dealing with patients with chronic, unexplained symptoms. They are often angry and unpleasant, not without some justification. I know we don’t have answers for many symptoms. I have no problem admitting my lack of knowledge to patients, looking things up, or referring them elsewhere. Sometimes you know that a diagnosis will likely become clearer over time, like multiple sclerosis or many autoimmune illnesses, and you can explain that. Other times, making a diagnosis is very much like the story of the Elephant and the Blind Men. You see things or look for things with which you are the most familiar or feel are most probable. We have a limited fund of knowledge, and often too little time or opportunity to discuss difficult-to-diagnose symptoms with our colleagues. Often, we have no one to consult with.

And as a person who herself gets weird illnesses and the parent of a child who does the same, I share the frustrations my patients. Sometimes you have to persist in seeking other opinions—a search that is expensive and exhausting, financially and emotionally. It is discouraging. But, as I remind myself and my patients, some times you have to kiss a lot of frogs until you find the prince. Just like Sick Chick did.

Further reading, resources:

A Patient’s Story – the story behind the founding of The Schwartz Center for Compassionate Care

A Lack of Data – Julie Maher The tragic and moving story of Dr. Maher’s death from a rare cancer
JAMA. 2012;308:1331-1332.

A special thanks to “Rose” for introducing me to these education and advocacy organizations:

The Coalition Against Pediatric Pain
Making the Connection

Sick Chick's avatar

Surviving the Rabbit Hole
Sick Chick’s Blog


Reflex Sympathetic Dystrophy Syndrome Association

Dysautonomia International


The Coalition for Diagnostic Rights

The Global Genes Project


“Wretched” – Piers Nye/Flickr

Pradeep Chopra, courtesy Mark Ostow, Schwartz Center for Compassionate Care

Sick Chick’s avi and feet, and pain map – courtesy of her and her mom

“Molecules to Medicine” banner © Michele Banks

Judy Stone About the Author: Judy Stone, MD is an infectious disease specialist, experienced in conducting clinical research. She is the author of Conducting Clinical Research, the essential guide to the topic. She survived 25 years in solo practice in rural Cumberland, Maryland, and is now broadening her horizons. She particularly loves writing about ethical issues, and tilting at windmills in her advocacy for social justice. As part of her overall desire to save the world when she grows up, she has become especially interested in neglected tropical diseases. When not slaving over hot patients, she can be found playing with photography, friends’ dogs, or in her garden. Follow on Twitter @drjudystone or on her website. Follow on Twitter @drjudystone.

The views expressed are those of the author and are not necessarily those of Scientific American.

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  1. 1. DFWMom 3:10 pm 02/18/2014

    Karina Hansen in Denmark and Justina Pelletier in Boston Children’s Hospital are currently being held against their will in psychiatric care, with severe restrictions on speaking to their families. The problems with these cases are numerous. Conflict of interest and violation of doctor/patient relationship – a patient should never be cared for by the doctor or institution that reports to family services. The doctor or institution can never establish the trust and rapport necessary for effective treatment. Violation of free speech — infringement on the rights of families to talk about violations of their rights with gag orders and violation of the patient’s right to communicate with her family. I also find it interesting that so many of these cases involve a young woman with a male doctor. Is there something psychological going on with the DOCTOR. Is it all in HIS head?

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  2. 2. Lauren Stiles 7:43 pm 02/18/2014

    Thank you Dr. Stone for highlighting the difficulties encountered by patients dealing with complex medical conditions that are often misdiagnosed as conversion, somatoform or other psychogenic labels. These labels do not help patients recover from their illness, often result in difficulties in obtaining future medical care, and even worse, can result in delays in finding the actual cause of a patient’s very real medical condition.

    Dr. Sherry’s website, implying that POTS is a form conversion disorder, disregards decades of very credible research on POTS. POTS is not a form of conversion or somatoform disorder. It is a well recognized medical condition.

    POTS and POTS like symptoms have been documented in association with many serious medical conditions, such as diabetes, Sjogren’s syndrome, lupus, antiphospholipid syndrome, rheumatoid arthritis, myasthenia gravis, multiple sclerosis, chemotherapy induced neuropathies, paraneoplastic syndromes, mitochondrial diseases, Ehlers Danlos syndrome, Chiari malformations, amyloidosis and more. What these seemingly diverse conditions share in common is their ability to impair the autonomic nervous system.

    Even in cases of POTS not associated with a distinct underlying medical condition, researchers have identified various autoantibodies associated with the symptoms of autonomic dysfunction. This month a groundbreaking research study conducted by the University of Oklahoma Health Sciences Center and Vanderbilt University will appear in the Journal of the American Medical Association identifying two adrenergic autoantibodies responsible vasodilation, orthostatic hypotension, upright tachycardia seen in POTS patients. Previously, Mayo Clinic researchers identified low titers of ganglionic acetycholine receptor autoantibodies in about 25% of POTS patients, and this autoantibody is known to cause widespread severe autonomic dysfunction in the higher antibody titers found in Autoimmune Autonomic Ganglionopathy (notably, there are other pathogenic autoantibodies suspected in AAG that have not been identified yet). Mayo Clinic researchers have also identified cardiac lipid raft autoantibodies in POTS patients. Australian researchers have identified epigenetic abnormalities at the locus of the norepinephrine transporter gene in a subset of POTS patients, as well as evidence of cardiac dennervation on MIGB scans of POTS patients.

    In light of the ever increasing evidence of the organic origins of POTS, it’s rather absurd to suggest that POTS is a form of conversion or somatoform disorder. More likely, doctors slapping psych labels on POTS patients do not have the tools, expertise, or patience to properly evaluate their POTS patients for the long, complicated list of conditions that could be causing their POTS symptoms – some of which probably haven’t been discovered yet.

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  3. 3. Judy Stone in reply to Judy Stone 9:22 pm 02/18/2014

    Thank you. I especially appreciate the information about POTS and autoimmune diseases and agree with you re your other comments.

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  4. 4. raquelsantiago 7:34 am 02/19/2014

    Unfortunately, this does not apply to just rare disease and I am so grateful you finally posted this article. At age 29 i started having very low back pain and my legs were giving out, the problem just got worse and xrays showing nothing and neither did the bloodwork so doctors refused to get an MRI even after requested by pain management and I was told it was all in my head. Finally fired all the doctors and went to a clinic 11 years later who ordered the MRI. I went back to pain management to see 3 doctors in a room and I knew something was up. I remember her words “we finally have answers”, problem is there is “no cure” only treatments to help alleviate pain. But i finally had answers and hope, 3 years now of treatments and a surgery and i have some semblance of a life back, yes still in pain but i have something I didn’t have before, Answers, hope, and doctors who listen. There are never any guarantees, but at least these doctors were honest with me and sought answers.

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  5. 5. AStrokeofLuck 8:06 am 02/19/2014

    Thank you for making the effort to learn so much and for helping to educate others regarding what many of us feel like we face alone. My daughter, Alex, also struggled through much of what you describe. Her story took quite a different path when she suffered a massive stroke. Oddly enough, the stroke disrupted the part of her brain that was killing her and causing her pain. We have come to call her stroke A Stroke of Luck.

    What I want to add to this discussion is the impact that these charades chasing help have on siblings of children in pain. When I decided to write a book about Alex’s story, my younger daughter, Jessica, volunteered to co-write with me. I was profoundly impacted by what she shared. We must include siblings in the collateral damage that is occurring through misdiagnoses that cause us to question ourselves and our children.


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  6. 6. Momo2S 4:31 pm 02/19/2014

    Thank you Thank you Thank you so very much for this article. We have a medically challenged child and after learning about Justina and what her family is going through, my husband is now concerned every time I want to take our child to a new medical consult, that the same thing may happen, even though we have her medical conditions diagnosed by expert physicians. It is so hard to live in the world we do with a medically challenged child as we know Doctor’s don’t know everything and yet, we are so dependent on them and are constantly trying to find the handful of one’s who think outside the box. Your article not only validates our experience and challenges, but gives voice to our children who are so often not believed. Thank you for your wisdom and compassion.

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  7. 7. robinredraven 4:46 pm 02/19/2014

    Thank you for this article on a very important topic. As a patient with multiple rare diseases, I have heard this same thing throughout my 42 years. I was not diagnosed with any of my disorders until just this past year. Doctors are entirely ignorant of them. When my mother took me to doctors as a child, she was repeated told that there was nothing wrong with my body and that my problems were in my head.

    I continued to be told the same thing throughout my adulthood until I took it upon myself to do the research, find my diagnoses, and hunt across the states to find doctors who were knowledgeable enough to confirm my diagnoses. The timing was incredibly lucky, as my daughter began to show symptoms of some of these same disorders this past year, at age 7. She has been able to get relatively quick attention and treatment because I have been able to get her in with doctors who are familiar with these disorders and hopefully, we will be able to keep her from the amount of suffering I have had to endure.

    It’s very disturbing that a child’s (or anyone’s) legitimate physical ailments can be written off as a mental problem simply because of the incompetence of doctors. All it takes is one doctor to actually care enough to do the digging, to run the tests, to do what it takes to figure out the problem or at least help the patient in some way. Why is that so difficult to find? A doctor like that is far more rare than any of my conditions! And why is it acceptable to anyone in medicine to do any less?

    Thank goodness for the the doctors who are doing the right thing– standing with their patients, believing them, and supporting them.

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  8. 8. Annabelles 6:38 pm 02/19/2014

    Thank you Dr Stone and Scientific American for acknowleging that the “emperor isn’t wearing any clothes” Having lived in this crazy world of trying find medical professionals who listen to and “get” children/teens with pain, it is such a breath of fresh air to read this article. It amazes me how many MDs will accept what Dr Sherry says about the “conversion like symptoms” My daughter was in a similar program for the PT rehab for RSD, when she was fainting, they moved her into the psych program as her fainting was “conversion disorder, they even put a helmet on her head” We finally got her out of the program, and correctly diagnosed with EDS and POTS, neither which were explored before the powers to be told us her medical problems were “in her head” and moved her into the psych unit. While we now have the correct diagnosis, none of the wrong ones have been expunged from her medical records. I will take this article with me whenever seeing a new MD. Thank you again

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  9. 9. MadvocateMom 7:21 pm 02/19/2014

    Thank you for this article. My daughter suffered for years from POTS and was labeled as somatic. Really? What kid wants to be “the sick one?” I kept telling the doctors there was something they hadn’t found. Well, guess who found the diagnosis? Me, not the doctors! Then I had to find the doctor who knew POTS (actually went to one who said he was-NOT) and the second one was a winner.
    God complexes lead to misdiagnosis of somatoform. If they don’t know what it is or they don’t know how to fix it, it must be in the patient’s head, right? WRONG! What they are doing to Justina frightens me for those parents who have a child with a rare condition and may NOT take the next step which could help their child. Your child should NOT be taken away because you are advocating for them. Searching for a cure is the LEAST of what a good parent will do. Somatoform is a diagnosis of ignorance on the doctors’ part!

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  10. 10. MomDDD 7:30 pm 02/19/2014

    This article could have been written about my daughter, thank you. This is exactly what I want people to understand about our struggles with her rare diseases. It’s heartbreaking when doctors not only don’t believe symptoms are real but even worse when the children are accused of manufacturing the symptoms. Legitimate diagnoses are being ignored every day, at what cost to these kids? Thank you for bringing awareness to this.

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  11. 11. Concernedmom1 7:46 pm 02/19/2014

    Thank you so much for writing this article and for the thoughtful commenters (especially Lauren Stiles). I’m appalled and saddened by Dr. Sherry’s falsehoods about the prevalence of conversion disorders in his patients. As a psychologist who has a child with POTS and EDS, I’ve done a great deal of research and experienced first-hand the damage that can be done by physicians falsely labeling these children with psychological disorders. While there can be co-morbid depressive and anxiety disorders that exist in addition to the physical illnesses, studies show that people with POTS do not have higher incidences of psychiatric disorders than the general population. POTS specialists know that it is a very real physical illness with neurological, neurochemical, autonomic origins. Proper diagnosis and treatment is key. Claiming that children with POTS and/or pain actually suffer from conversion disorder and that symptoms should be ignored? That is dangerous and unethical.

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  12. 12. AMOldham 8:47 pm 02/19/2014

    Wonderful article, so insightful and right on. Thank you for continuing to highlight the struggles of those with chronic and rare diseases and pain.

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  13. 13. Judy Stone in reply to Judy Stone 9:15 pm 02/19/2014

    Thanks so much! So glad it was helpful.

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  14. 14. jenwyatt 10:21 pm 02/19/2014

    Thank you so much for this and trying to raise awareness for so many who suffer. My daughter has several of the diseases you mentioned and while we have so far been very lucky in finding doctors who genuinely care and want to help, we know so many who struggle with trying to find doctors who understand and will help. Hopefully, this will help. Thank you so much!

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  15. 15. momof3 10:35 pm 02/19/2014

    Dr. Stone, thank you so much for this article – it could have been written about my son. He was seen by Dr. Sherry and a colleague a couple of years ago, at which time he was diagnosed with CRPS. At the time we were still searching for answers for my sons many symptoms – when I brought up the possibility of Ehlers Danlos Syndrome, Dr. Sherry’s colleague told me that he “doesn’t buy it as a diagnosis”. We were supposed to sign him up for Dr. Sherry’s clinic, but I absolutely couldn’t get past the ‘discontinuing further medical evaluations’ part of the program. Good thing, because after seeing several more doctors (one of whom flat-out told me to stop ‘doctor shopping’), we finally found a few wonderful doctors who recognized that he was dealing with (on top of his already diagnosed Eosinophilic Esophagitis) Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and Dysautonomia.

    We saw three different rheumatologists over the years, all of whom said no when I asked about EDS. It took a very astute allergist to point us in the direction of medical genetics, who immediately diagnosed my son (and later his sibs) with EDS. Knowing what I do now, it is abundantly obvious that he has EDS – I simply cannot understand how so many doctors could have missed it over the years (even when asked about it). My son’s confidence was destroyed by years of seeing doctors who did not believe his symptoms/wrote them off as psychosomatic. Our journey has been unbelievably difficult, yet sadly I now know so many other parents with similar stories. Again, many thanks for shining a light on this topic.

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  16. 16. CathyL 11:10 pm 02/19/2014

    When I think of the damage a few people who are in a position of power can do, it scares me tremendously. I thought the hippocratic oath was “ do no harm”. How can these so-called professionals sleep at night knowing how much harm they are doing? To “assume” that someone has a psychological problem before fully exhausting all avenues of research and testing to rule out a physical problem first, is incomprehensible to me. It took us 7 years to get a diagnosis of EDS/POTS for my daughter and although we were lucky enough to not be told it was a psychological issue, it was a frustrating time to say the least. To be open-minded, interested in helping and willing to admit when one doesn’t know an answer is the true mark of a professional. I have far more respect for someone who says “I don’t know what this is but let me try to find out” than for someone who throws out a psychological diagnosis because they don’t care to take the time to try to figure out what the issue is. Thank you for exploring this topic and writing this informative article.

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  17. 17. shrabs 11:21 pm 02/19/2014

    Thank you Dr. Stone. This is something that has to change in our healthcare community.

    It baffles me on a daily basis how a profession that takes an oath to do no harm can go ahead and perpetuate hogwash like what is written by Dr. Sherry with no unbiased, peer review research to really support his data, especially when the perpetuation of these beliefs can cause more harm to the patient and family these professionals are “professing” to care for.

    The results from not exploring likely other physical ailments and writing things off as conversion are so dangerous and can cause harm in the following ways:
    1.) Patients can get worse and with some conditions written off as conversion, can even die without treatment.
    2.) Psychological trauma can occur turning the patient off to future psychological support to get help in dealing with their complex pain/medical condition.
    3.) It can create arguments in families, between physicians and families, causing rifts in families, loss of custody, etc. Talk about creating environments of stress for a real conversion disorder to take hold. and, 4.) Most of the things misdiagnosed or chalked up to conversion disorder can be debilitating and can permanently disable an individual. In a situation where the family and patient are likely already under great financial strain, a label like this is now not only condemning them medically but making it impossible for them to get financial support for true disabilities to make ends meet.

    The madness has got to stop. Until then, more kids, families, and others will suffer needlessly or die.

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  18. 18. amymichelle 11:46 am 02/20/2014

    Thank you to Scientific American for publishing this important article. As a healthcare attorney, healthcare fraud investigator, patient advocate and POTS and Ehlers Danlos patient, I have dealt with many different aspects of our healthcare system. Based on my own experiences, and listening to the experiences of hundreds of others, I believe that our healthcare system is in many ways failing those with rare or rarely heard of disorders and diseases. I am unsure why so many doctors are rather obsessed with these fairly rare issues such as conversion disorder, somataform disorder, malingering, Munchausen and Munchausen by proxy. If 1 in 10 Americans has a rare disease, it’s far more likely that the patient’s health issue has a pure physiological basis rather than a psychological or behavioral basis. To have so many providers throw out these diagnoses without sufficient testing not only injures the patient further and creates a permanent record of the uneducated guess, it costs patients and third party payers millions.

    There is something very bizarre going on with so many providers and healthcare facilities in their rush to unfounded diagnoses. Is it ego? Perhaps. I wonder what Freud would have to say about provider obsession with painting the patient as having a unconscious basis for their health issues. Does the provider need to be psychoanalyzed? When one foot is blue and cold and swollen and the other foot looks normal…mental and behavioral issues should never be the first guess. This is madness. Open your eyes. Run a few tests. If you don’t know the answer, the patient will be far more grateful for an outside referral and an admission that the provider doesn’t quite have an answer yet. The providers who gave me the greatest reassurance during my own diagnostic journey were those who were willing to admit they didn’t have all the answers. The ones who wrote my problem off as psychological still receive letters from me inviting them to fundraisers for Dysautonomia research.

    I foresee a great deal of litigation in the immediate future regarding misdiagnoses for patients with rare or rarely heard of diseases. Health systems and providers will be doing themselves a great favor by taking the time to absorb and apply scientific data and medical research instead of continuing to obsess with the idea that the medically complex are suspect.

    Thank you to the Dr. Chopra’s of the world.

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  19. 19. ebslnmother 11:45 am 02/22/2014

    Just to repeat the thanks expressed by others and to say that although we have not experienced such problems with doctors in this country (UK), such attitudes are aslo found in other professions. In our case, the teachers treated our then 16 year-old daughter as attention-seeking when she started fainting at college and experiencing intense pain when handwriting. They sent her to counselling! This article has finally spurred me to write to the college to point out the error of their ways in the hope that they will be more open-minded in future.

    Link to this
  20. 20. JaneHarris 10:15 pm 02/22/2014

    Dr. Sherry is a terrible doctor. He is not a human being. He should try one of his own rehab programs after sticking a hot poker in his leg. Any parent reading this, please take my advice – STAY AWAY FROM DR. SHERRY

    Link to this
  21. 21. jimboland 10:20 pm 02/22/2014

    Dr. Judy Stone, this is a fantastic article. My daughter has EDS and CRPS. It just validates what I had known along that there is a link. Dr. Chopra is so correct on that. I had taken her to Dr. Sherry and he could not care less about her and put her in his stupid rehab program. He is a pediatrician with no background in pain or rehab.
    Thank you Dr. Stone for a marvelous job.

    Link to this
  22. 22. MomJanet 10:27 pm 02/22/2014

    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,
    Thank you, Dr. Stone,

    Link to this
  23. 23. Chrisolson 10:33 pm 02/22/2014

    Dr. Sherry has an ego the size of Texas. He has on his own renamed Complex Regional Pain Syndrome (CRPS) as Amplified Pain Syndrome. What does that even mean? I am surprised he has not named it as Sherry syndrome. He has no clues about CRPS. How can a doctor put a small child through brutal rehab without controlling her pain? I pretty sure he would not last 1 minute in his own rehab if he had CRPS. There has to be some action against him for such brutality.

    Link to this
  24. 24. Antjee 6:27 am 02/23/2014

    Yes, would like to add our Thank You, my son and I. It’s extremely difficult to read this article, having had many of the same experiences. Having your son called a liar by adults isn’t something which leaves you, especially when he’s suffering.

    What I’d like to know is where is the accountablity? If an attorney were to mistreat clients in this outrageous fashion, a board of peers would strip him/her of their ability to practice. Given the scientific evidence, the actual existence of these diseases and disorders so blithely denied by these snake oil salesmen in order to institute THEIR treatment,I’d have thought the medical community would be outraged, too. I just don’t see where it’s up to us, the patients, to have this battle over proving our illnesses. They’ve BEEN proven, now it’s up to the medical community to run charletons out of town on the rails, like they used to do.

    Weren’t tar and feathers employed in some way?

    Link to this
  25. 25. Tanya Selth 6:53 am 02/26/2014

    Too many people both children and adults are being falsely diagnosed with mental health diagnoses even when at times they sometimes already do have the other issues they have already diagnosed. All it takes is to go to a doctor who doesnt understand the other diagnoses you have and you can find yourself then with mental health ones.

    In my on case I had a borderline personality disorder diagnoses slammed onto me when I was close to 40 years old as I became suicidal due to rare conditions I have which the severity was being ignored treatment wise (thou diagnosed) by the medical community so I was really struggling to survive, often missing meals cause I was too unwell to cook etc. I had a GP who was ignoring my specialists and when I told him I’d had another collapse and been stuck in a street unable to get home..his reply “you arent disabled”.

    I feel like Im traumatised by my whole experience (I keep thinking that I will die cause I cant get the home support etc Im needing.. in past I was bedridden for 9mths with my 9-10year old daughter having to become my carer). Even thou i do nowdays have the right diagnoses (unfortunately the wrong past diagnosis I havent managed to get off my records) I get discriminated against by a state disability system who should be aiding me.

    I collapse a lot at times have gone unconscious for short time, I have POTS and other forms of dysautonomia, ME/CFS, major food issues etc etc. Im now fighting with the state system to try to get my care needs meet and now have my states disability service in Sth Australia ignoring my doctors and specialists letters saying I need more support.

    I cant even shop myself and have to be pushed in a wheelchair, one time I got kicked out of a hospital when I was so sick I couldnt walk out (they wheelchaired me out and called a taxi and sent me home with no support at all).

    I ended up in hospital on a drip a few weeks ago due to the severity of my conditions (as I got severely dehydrated with the POTS even with taking Florinef). On that occassion when my blood tests came back I was told that I was so dehydrated that my kidneys werent working right.

    Even with the above happening.. I still are in battle to get my care needs met and now trying to figure out how I can get a lawyer to sue for the discrimination and worsened health I have now due to it.. issue does one get to a lawyer when one is homebound?

    Its affected me so much that I was having nightmares over the lack of support Ive got to the point in which there was an occassion in which the neighbour called the police as I was screaming in my sleep (Ive no idea if I still do that at times).

    Tanya Selth
    Severe ME/CFS sufferer with all the complications which can go with the disorder including severe dysautonomia.

    Link to this
  26. 26. ceejlee 2:21 pm 03/2/2014

    What many do not realize, and I learned this only recently, is that CRPS has been around since the civil war era.
    As someone with trigeminal neuralgia, a severe, debilitating and often disabling facial pain disorder, even after neurosurgeons found the reason for my tn (I have a birth defect with many, many extra blood vessels thruout the affected side of the brain, removal of which stopped 99.99% of the pain until the vessels grew back a few months after surgery.)I had a neurologist and neurosurgeon try to make it a psychiatric disorder, stsayting “there are times like today when I believe in her pain.” and “Your pain cannot be as bad as you say it is.” When I refused a surgical procedure in favor of a different surgeon (the one who did the initial surgery) redoing the initial surgery I had a psychiatrist on the disbelieving neurosurgeon’s staff tell me I was “splitting” my caretakers despite the explanation of why I wanted the initial surgery and not the one proposed.
    I have found as an advocate for those in chronic pain, specifically for women against whom gender bias in the medical professional still exists, I hear these stories all too often, they said my pain isn’t real, it can’t be as bad as I say, I don’t need medication for the pain despite their having nothing else to offer me, and so on.
    Chronic pain’s invisibility is a major reason too many doctors can get away with the kind of ‘treatment’ that children, and adults, find way too often. The other part of the equation is too many doctors are unwilling to say “I don’t know” relying instead on using psychiatry as a way to blame the patient.

    Carol Levy
    author A PAINED LIFE, a chronic pain journey
    Women In Pain Awareness Group, founder, administrator
    accredited to the U.N. Convention on the Rights of Persons with Disabilities member U.N. NGO group, Persons With Disabilities

    Link to this
  27. 27. rosiem 10:34 pm 03/3/2014

    I took my daughter to see Dr. Sherry. She has CRPS and I was looking for help for her. He saw her and put her in his rehab program. At the end of the program he sent us off. The pain was still the same. No change. He was rude, his bedside manners are terrible. We then went to see Dr. Chopra. He was phenomenal. Kind, compassionate. He spent over 3 hours examining my daughter. He came up with a diagnosis of EDS and POTS. He started treating her for that is now doing extremely well. No psychiatrists or any of the Sherry mumbo jumbo.

    Link to this
  28. 28. AlanHanley 10:43 pm 03/3/2014

    Dr. Chopra is by far the most intelligent and compassionate doctor I have ever met, and I have met a lot. He spent over 2 hours with my son going over every single detail. This is after I had taken him to Boston children’s Hell Hospital, Dr. Sherry the Sham. Dr. Chopra’s diagnosis and treatment were spot on. My son is back in school and doing well. He still has nightmare of his stay in Boston Children’s Hell hospital. Thanks to Dr. Chopra’s kind care, we hope it will be a thing of the distant past.

    Link to this
  29. 29. Kevl654 12:34 pm 04/7/2014

    Dr. Stone,

    A few points here because I think there are some misleading items in this article.

    1. It would be unconscionable to continue completely ineffective medications which have strong or deadly side effects. In one video on Dr. Sherry’s website there is a child who is on a morphine pain pump which stopped being effective. After four weeks of PT and OT he was pain free. Are you saying you would have continued to medicate this child even though Cochrane systematic reviews do not support the use of medications for amplified pain? These are kids who routinely fail medications, epidurals, nerve blocks, and other risky procedures. Many of these children have already been on every medication in the book and they have not helped or the effects wore off.

    2. That there is a pathophysiology to CRPS is not disputed by any reputable physician, including Dr. Sherry. The only consensus among experts is that we don’t fully understand what causes it. Since there is a clear pathophysiology to CRPS and there are diagnostic guidelines for a diagnosis, is it ridiculous to make extrapolations about increases in cases like that of Justina Pelletier.

    3. The program at CHOP is supported by peer-reviewed evidence showing that these programs can effectively resolve all pain in 89-92% of CRPS patients. Do you know of another treatment with such high efficacy? There is no miracle cure, it doesn’t work for all kids, but intense PT and OT is effective for the vast majority of patients.

    I feel bad for the children who might not have a shot at quickly resolving their pain through such a program because a parent read this article.

    Link to this
  30. 30. TuksStudents 12:38 pm 04/24/2014

    Dr. Stone,
    Firstly, let us start by thanking you for broadening our outlook on ‘rare’ diseases. It would be great if, somehow, we could decrease the level of misdiagnosis in the world. We have heard about many unfortunate cases where doctors base their assumptions on the first random diagnoses that pops into mind, usually basing their diagnoses on a similar case that they’ve heard of somewhere. Misdiagnosis can lead to financial strain, causing suffering in a family also putting the patient’s life at a huge risk. It is clear that this happens too often as it should because just in your survey alone there was three misdiagnoses. This can help encourage research in medicine to improve drastically. As for the POTS part, we all know that POTS is a form of dysautonomia. The diagnosis for POTS is a heart rate increase, which could be mistaken for a heart attack. Children and adolescents are strictly diagnosed using the Tilt Table Test which is rare, or diagnosis is made with bedside measurements of heart rate and blood pressure taken in the spine laying down and standing up position at 2-10 minutes. Its symptoms are more complex than just the increasing of the heart rate. Research has also shown that blood pressure plays a huge role in POTS diagnosis. All this makes it clear that a diagnosis on a patient is a serious thing.
    Dlamini Lindokuhle-14222541 Courtney van der Westhuizen-14119146

    Link to this
  31. 31. TuksStudents 4:37 am 04/27/2014

    Dr. Stone,
    We would like to elaborate a bit on the information we gathered while researching this topic. Complex regional pain syndrome (CRPS), is a chronic pain condition most often affecting one of the arms, legs, hands, or feet, usually after an injury or trauma to that limb. The damage to the central and peripheral nervous systems is believed to cause CRPS. We have read various studies which show that some patients can recover well, whereas in severe cases, they can be permanently paralyzed. One may ask, Who gets CRPS? Well the answer is simply – anyone, but it is rare to children younger than 10 years and mostly common in women. This type of disease may be lightly misdiagnosed for something else, Dr. Stone mentions this in the blog. These are a few symptoms that might be useful to know about before running to the doctor and being misdiagnosed:
    • changes in skin texture on the affected area: it may appear shiny and thin
    • abnormal sweating pattern in the affected area or surrounding areas
    • changes in nail and hair growth patterns
    • stiffness in affected joints
    Having a clue of what you think is wrong with you can help the doctor, and it reduces the level of misdiagnosis. In this way the doctor will have an idea before examining you, but remember do not diagnose yourself!
    Dlamini Lindokuhle-14222541 Courtney van der Westhuizen-14119146

    Link to this
  32. 32. TuksStudents 5:11 am 04/30/2014

    Dr. Stone,
    We think pain can be a huge misleader when it comes to diagnosis. Feeling pain and being emotional about it is not a bad thing, in that way the pain you feel will be easily conveyed to the next person/ doctor. Sick Chick’s story is very sad as many can relate to it. This doesn’t really help the reputation of medical institutions/doctors. We think it would be beneficial for doctors to refer their patients to specialists in that specific field to help reduce risks of misdiagnosis and to avoid giving the patient false hope or treatment that is extremely unnecessary. ‘Chick finally kissed the right frog, and found her prince’, as Dr. Stone phrased it, would suggest that it was a well-educated physician, which Chick found, who was finally able to give her the accurate diagnosis (EDS). What is the EDS? According to Prof. E Rietz (Tokyo University), Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Making many people with this disease have soft, velvety skin that is stretchy and fragile. This disease is inherited in its different types and is therefore difficult to diagnose. This again could lead to many unnecessary misdiagnoses which could ultimately be prevented if doctors took more care while seeing to a patient.
    Dlamini Lindokuhl-14222541 Courtney van der Westhuizen-14119146

    Link to this

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