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Rare Diseases – in Honor of Sam Berns

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


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Sam Berns with Dr. Francis Collins at TEDMED2012

Two cases this week highlight some of the difficulties surrounding rare and orphan diseases.

First, Sam Berns, age 17, just died from his progressive genetic disease, progeria, which causes very rapid and premature aging. Progeria affects 1 in 4 – 8 million newborns; less than 250 kids in the world are alive, making research very difficult.

The second was the court-ordered release of Justina Pelletier, a 15 year old girl, from Boston Children’s Hospital (BCH), where she has been hospitalized for almost a full year against her parents wishes. Justina had been treated for a mitochondrial disease at Tufts Hospital, but BCH disputed the diagnosis.

Why care about these unusual cases?

Basic science is sometimes dismissed because it is not necessarily immediately translated into tangible results. Such rare diseases give us insights into basic cell functions and biochemistry that might be translated into clinical practice. As an NIH white paper notes, “mitochondrial function plays a central role in degenerative diseases and aging, making the understanding of this organelle important not only to patients with Primary Mitochondrial Diseases but also to patients with more common disorders, such as diabetes, Parkinson’s disease and age-related hearing loss among many others.” Similarly, progeria is thought by some to underly normal aging processes.

Let’s look at some of the problems in diagnosing and in developing treatments for rare diseases.

Mitochondrial diseases

Mitochondrial diseases were first described in 1963. They have only received more in-depth recognition in the past decade. I never saw them in my training or practice until the past 5 years. Even now, they are infrequently recognized. Mutations in over 100 genes have been identified so far, and are estimated to affect 1 ~5,000. Mitochondria are intracellular structures that fuel our cells via oxidative phosphorylation, in which food and oxygen are converted into ATP (adenosine triphosphate), which is required to maintain cell activities. We now know that mitochondrial DNA (mtDNA, or genetic material) is inherited differently from that of the rest of the cell (nuclear DNA, or nDNA), and is passed on by the mother. A mutation in the nDNA can also affect mitochondrial proteins and be transmitted by either parent. But because so many different genes are involved, manifestations vary widely making diagnosis difficult.

Justina’s case illustrates some of the problems of diagnosing and treating mitochondrial diseases, well described in the Boston Globe series. First, her symptoms were variable. Her parents took her to multiple physicians seeking a diagnosis and effective treatment plan. She, and her sister were under treatment by Dr. Mark Korson, Chief of Metabolism at Tufts. Unfortunately, her gastroenterologist, Dr. Alejandro Flores, transferred to BCH, so Dr. Korson suggested she go there when she became ill. BCH physicians not only reportedly disputed the diagnosis of mitochondrial disease, insisting she had a psychiatric problem, but did not allow either Dr. Korson or Dr. Flores to participate in Justina’s care, nor even to provide a second opinion.

Seeking multiple opinions was disparaged as “doctor shopping,” prompting concerns of Munchausen’s syndrome, or factitious illness (in this case created by the parents). Because of concerns over “medical child abuse,” Justina was put under the care of protective services and placed in a psychiatric unit, allowed only very limited contact with her family, and subjected to life in a very strict and regimented setting. Some of her medications were stopped. After a protracted battle, a court ordered Justina to be released from BCH and returned direction of her care to Dr. Korson.

Justina’s case caught my attention because I have helped care for a young patient with mitochondrial disease, who I will call “Rose,” since she is such a lovely person. I am sharing some of “Rose’s” story with her permission.

Rose has had a variety of vague symptoms “as long as she can remember,” including heat intolerance and dizziness. By the time she became a teen, she experience severe orthostatic hypotension (POTS) and fainting (syncopal) episodes. She then developed stroke-like episodes, with prolonged weakness and difficult recoveries, and severe migraines. Yet the diagnosis of POTS wasn’t made until she was 18, and mitochondrial disease was not the leading diagnostic consideration until she was 19. In the meantime she, like Justina, was “accused” of having a psychiatric rather than physical problem.

A surgeon, consulted to place a feeding tube, decided in that single visit that she had bulimia. For Rose, this isn’t surprising; doctors diagnosing her after a single visit, or even sight unseen, happens all the time. (In her own case, Rose had been given several incorrect diagnoses of psychiatric disorders before doctors correctly diagnosed her with a mitochondrial disease—after a delay of many months). Rose goes on to note that not only is a delay in treatment harmful, “but it causes mental anguish, worry, and distrust. Every other mito, POTS, or chronic illness person I meet has had this happen. Every single one. And they all have some level of fear meeting a new doctor, opening up about their symptoms, and constantly worry it is going to happen again.

Complications worsened, with inability to swallow and with bowel dysmotility, requiring multiple surgeries and, ultimately, years of intravenous feeding (hyperalimentation). Through this, Rose has remained as active as possible, enjoying family, friends, and school.

Rose states, “Insurance is a constant battle. We’ve payed thousands out of pocket each year in past years. I’ve been denied medications that could improve my motility and aid me in staying off of TPN, which in turn would help prevent [my life-threatening] central line infections/sepsis. It has gratefully improved but only by stressful and constant fighting…”

“I’ve been refused inpatient physical and occupational therapy multiple times, including kicked out of the program twice. Once I was unable to walk on my own, making it a very dangerous situation in my multilevel home that was not set up for me. I didn’t even have a proper wheelchair, and had to drag my feet and was constantly running them over. …I was also denied further studies for mito diagnostics.” This was because a diagnosis would not likely change the progressive decline in her condition.

Frankly, in caring for Rose, I have at times wondered if her insurance carrier hoped to hasten her death in order to save money.

Rose has had to travel far from home for her care, but now has a team she trusts. “Things since have been very good. All my doctors are wonderful, caring, understanding, and fight for me every day. My disease has progressed to the point of total TPN dependence, chronic respiratory failure, and general progression of other organ systems either becoming involved or worsening. However, I’m very much at peace and so grateful for my life.”

Progeria

Even if a syndrome is recognized, like progeria, there are huge barriers to research, illustrated by Sam Berns’ case. Sam was born in 1996, and diagnosed with progeria at 22 months. His parents, Drs. Scott Berns and Leslie Gordon, both physicians, formed the Progeria Research Foundation (PRF) in 1999, in response to his illness. Gordon subsequently completed an MD-PhD program and has since devoted herself to research on her son’s disease, working closely with NIH, through it’s director, Dr. Francis Collins.

Molecular basis of nuclear defects in progeria

The Progeria Foundation has made remarkable progress since then, through this collaborative process. In 2002, the PRF Genetics Consortium was formed; they succeeded in identifying the gene for progeria, in part through their development of a PRF Cell and Tissue Bank, just 10 months later. This single gene mutation leads to an inner nuclear membrane protein, called Lamin A, to be produced abnormally, and a farnesyl group can’t be cleaved. The resultant abnormal protein, called progerin, causes persistent farenesylation, or accumulation of this protein on the nuclear rim.

This leads to distortion of the nucleus of cells and abnormal development, resulting in cells being unable to divide normally and to the cell’s premature aging.

Normal and progeria-distorted nuclei of cell

Astonishingly, PRF funded and coordinated the first clinical trial of a treatment for progeria, using a drug called lonafarnib, a farnesyltransferase inhibitor (FTI), which inhibits this process. FTI had been shown to prevent cardiovascular disease —the major cause of death in children with progeria—in young mice and to reverse disease somewhat in older ones.

The trial included 28 children—75% of the world’s population with the disease at that time, including Sam Berns. His mother, Leslie Gordon, was the lead author on the report announcing the first potential treatment of progeria, with some patients showing modest improvement in weight gain, cardiovascular, and bone disease.

Target sites for drugs for progeria

Since then, other targets for treatment are under study. A triple drug trial is in progress, combining drugs for the targets shown: lonafarnib (FTI inhibitor, pravastatin, and zoledronic acid, a bisphosphonate. (The latter drugs have been marketed for some years for treatment of elevated cholesterol and osteoporosis, respectively). Rapamycin (sirolimus), a macrolide antibiotic used as an immunosuppressant, is also being explored, as it removes progerin from the cell’s nuclear membrane.

Barriers in diagnosing and caring for patients with rare diseases

These two cases illustrate some of the difficulties families face in caring for children with rare diseases. First, symptoms may be subtle or unusual and therefore not be readily recognized by physicians. Many of us may not ever encounter patients with recognized disease in our careers and thus lack the opportunity to learn from them.

Time and knowledge constraints limit physicians, too. For example, patients with complaints of “chronic fatigue” syndrome are enormously time-consuming and frustrating to attempt to diagnose. Their complaints simply cannot be addressed in the 15-20 minutes often allotted for a visit. The same is true with mitochondrial diseases, where symptoms might affect a variety of organs, with varying degrees of severity, and therefore with widely different symptoms.

Similarly, not all believe in a physiologic basis for some syndromes—reportedly a problem in Justina’s care, as well as people with “chronic fatigue,” “chronic Lyme,” or PANDAS (pediatric autoimmune neuropsychiatric disease associated with Strep).

There are huge obstacles to diagnosis imposed by insurance. Barriers may be from people lacking the necessary insurance coverage to obtain testing. But insurers have also denied testing to make a diagnosis, given that there is no specific treatment for many rare diseases.

Lack of funding is a growing problem. In Canada, the cbc notes, “In the past five years the federal government has dismissed more than 2,000 scientists, and hundreds of programs and world-renowned research facilities have lost their funding. Programs that monitored things such as smoke stack emissions, food inspections, oil spills, water quality and climate change have been drastically cut or shut down.” In the U.S., the sequester imposed by Congress imposed an initial 5% cut in research spending. NIH has lost 25% of its funding since 2003. In a survey last fall, 1/3 of scientists said they had laid off researchers. This is not just an immediate problem, but is likely to decimate US research, persuading aspiring young basic science researchers to seek alternative careers.

Difficulties in designing studies for rare diseases

The progeria trial also illustrates the difficulty in designing studies and getting them accepted for publication. The first trial has been criticized for being inconclusive, though some patients showed improvement. Clearly, it is not possible to amass large numbers of patients to demonstrate efficacy definitively. Nor is it possible to do a randomized controlled trial, so observational studies were done, comparing the children to their pre-treatment growth and studies. [Note: It would have been unethical to do a clinical trial comparing treatment to placebo, since progeria is a progressive and universally fatal disease, with children generally dying by their early teens.]

Getting small trials like this accepted for publication may also be more difficult, noted Dr. Mark Kieran, Director of Pediatric Medical Neuro-oncology at the Dana-Farber/Children’s Hospital Cancer Center, who headed the progeria trial. This may be because of their non-traditional design, and because some journals may perhaps be more interested in blockbuster stories with immediate and broad economic impact.

An excellent overview of other barriers to research for rare diseases is available here and for mitochondrial disease is here.

Advocacy

As government funding for research is cut, private advocacy groups like the Progeria Foundation assume a greater role. Obtaining funding for progeria has been easier, perhaps, than for some other rare diseases because understanding progeria help lead to finding drugs to slow aging, with great commercial potential. Having bright, articulate, well-educated and committed activist parents like Gordon is an enormous boost. And so is having a child like Sam, who educated the public about his disease so passionately, as he did at TEDMED in 2012, when I heard him with Dr. Francis Collins. Sam subsequently shared his inspiring philosophy for life in TEDxMidAtlantic 2013 and Life According to Sam. In an NPR interview, “Sam says the most important thing people should know about him is that he has a great family and a very happy life.” Rose would say the same.

Credits

“Molecules to Medicine” banner © Michelle Banks

Photo of Dr. Collins and Sam Berns from Dr. Collins moving tribute to Sam, Director’s Blog

Molecular basis of progeria – PLOS Biology

Medications that inhibit farnesylation – AlbetaPons, Wikipedia

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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. AndyMoy9 11:02 pm 01/14/2014

    I read this blog with more than a little interest. You make excellent points regarding the difficulties in conducting studies and basic research in rare diseases. However, there also may be useful, although perhaps not comprehensive, information regarding the course of the disease and the effectiveness of treatments from the handful of medical professionals who have had direct experience with an illness. There may not be a cure, but some mitigation of the suffering, if only through providing ready access to information about cases other than the one at hand is far better than simply “doing no harm.”

    I certainly don’t suggest that clinical studies should be replaced, but where it is absent, or unlikely to exist, more can and should be done. And, this brings me to the reason why your blog caught my eye, and why I felt it important to write this brief note. In the summer of 2012, the daughter of close friends succumbed to a rare form of cancer at the age of 33. She was a wife, a mother, and an MD, as is her father. I do not presume to be sufficiently eloquent to tell her story, but her posthumously published essay, “Lack of Data”, (JAMA, October 3, 2012—Vol 308, No. 13 1331 – http://jama.jamanetwork.com/article.aspx?articleid=1367568) says a great deal. Perhaps ready access to information that is currently scattered may provide a bit more leverage toward research; perhaps certain so-called “rare diseases” may be linked to more widely experienced maladies….

    Thank you for your informative article. I found it very illuminating.

    Link to this
  2. 2. Diane O'Leary, PhD 2:18 am 01/15/2014

    Thank you for doing a story on obstacles to rare disease care! I suggest, though, that you’ve been far too kind to your medical colleagues here. In your discussion of barriers to care you actually ignored the primary threat you discussed in the cases of Rose and Justina – their doctors.

    Rose was relentlessly “accused” of psych problems when she actually had mitochondrial disorder, and Justina’s expert medical care was directly obstructed when brand new doctors decided to go with a psych diagnosis instead.

    It is time to look this problem in the eyes – and to stare it down. The primary obstacle to care for both girls is not a natural by-product of rare disease. It’s their doctors’ willingness to risk their physical suffering on reckless, unsubstantiated hunches about psych problems.

    There simply is no medical justification for this level of recklessness in the diagnostic process. Where is the medical gain to balance out the “anguish” Rose so aptly described in rare disease patients preparing to face the horror of unfamiliar doctors – terrified that, yet again, they will be denied medical care, humiliated all along the way with errant psychological probing?

    What is the medical gain that makes sense of so many patients like Rose and Justina who are physically suffering and cannot get the care they need? What do any of us gain from doctors’ obsessive efforts to root out psychiatric causes at all costs?

    Rare disease patients are not rare! There are 30 million in the US, as many as there are in the “epidemic” of diabetes. Most of them match current, unspeakably careless criteria for somatoform disorder to a tee during their staggering average 7-year diagnostic delay.

    The Coalition for Diagnostic Rights works to raise awareness about this problem. It is criminal for this many people to face mistaken denial of medical care as a matter of course.

    It is criminal even for one sick child to be needlessly denied medical care.

    Link to this
  3. 3. MCoyne 5:50 am 01/15/2014

    The graphic showing a normal and progeria cell is inaccurate. The picture actually shows a normal and progeria nuclei.

    Link to this
  4. 4. Lauren Stiles 12:14 pm 01/15/2014

    Dear Dr. Stone,

    Thank you for highlighting the difficulties faced by patients living with POTS and other chronic health conditions!

    Your patient Rose is right – almost every POTS patient I have ever met has been dismissed by several doctors along their journey, often with accusations of “faking for attention” or being told their symptoms we’re “all in their head.” This should not be, since POTS is a very tangible, objectively verifiable medical condition.

    Dysautonomia International, a non-profit focused on disorders of the autonomic nervous system, recently surveyed 703 POTS patients from across the world, and found that 85% had been given a psych misdiagnosis prior to being diagnosed with POTS. Most common was “anxiety” and “it’s all in your head.” Published research from Vanderbilt University’s Autonomic Dysfunction Center has shown that POTS patients are actually less likely to suffer from an anxiety disorders than the general public, and only somewhat more likely to have mild depression – perhaps due in part to the challenges they face in trying to obtain decent medical care for their condition and the stress that comes along with any debilitating chronic illness.

    I co-founded Dysautonomia International with other POTS patients, parents and physicians in 2012 after my own two year period of misdiagnoses. I had an acute onset of lightheadedness, fainting, and severe GI symptoms at the age of 31 and had dozens of doctors tell me it was “all in my head” simply because they couldn’t figure out what was wrong. I knew my body and knew something was really wrong, so I persisted. After two years, I finally found a great neurologist at Cleveland Clinic who determined that I had POTS caused by an autoimmune disease, Sjogren’s Syndrome. My health has significantly improved since finding the right diagnosis and beginning the proper treatment.

    Dysautonomia International is committed to raising funds for medical research, educating physicians, raising awareness amongst the public and providing patients with useful tools and resources to help make life with an autonomic disorder a little bit easier. Your readers can find more information about POTS and other autonomic disorders on our website: http://www.dysautonomiainternational.org.

    Sincerely,
    Lauren Stiles
    President, Dysautonomia International

    Link to this
  5. 5. Judy Stone in reply to Judy Stone 3:57 pm 01/15/2014

    Thank you! Corrected error.

    Link to this
  6. 6. Judy Stone in reply to Judy Stone 4:47 pm 01/15/2014

    Diane O’Leary, PhD, and Lauren Stiles,
    I understand your criticisms of physicians; I often share them. My family and I also have had “zebra” illnesses, and have been on the receiving end of such treatment, too.

    re anxiety and depression – yes, that happens when you are ill, misdiagnosed, and misunderstood. Perhaps some of the overlabeling though, comes from two things: a) physicians trying to be more attuned to psychosocial aspects of their patients’ lives when they were previously criticized for being oblivious to that, and b) the effective selling of psychiatric diagnoses, like depression, to physicians and patients by pharmaceutical companies. Pharma has done the same with creating “osteopenia” and “Low T,” for example, in addition to the incessant anti-depressant advertising.

    But I do want to defend physicians on point–we suffer from information overload and it is impossible to keep up with changes in our own field, let alone new syndromes being identified by genetics or cell biology. Until I met Rose, I had zero familiarity with mito. I still don’t really understand it nor the rationale for some of the medications her specialists prescribe. We have no gain from missing a diagnosis. We are human, have a limited fund of knowledge, and little opportunity to discuss “problem patients” or those with difficult-to-diagnose symptoms with our colleagues. Often, we have no one to consult with.
    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.
    So 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.

    Thank you for your comments. I hope that I clarified a bit.

    Link to this
  7. 7. shrabs 9:47 pm 01/15/2014

    Thank you for this wonderful article and thank Rose for telling her story as well.

    As a mother with EDS and two kids with EDS (one with RSD/CRPS, endocrine issues, Antiphospholipid syndrome,and dysautonomia as well,) we understand the issues out there all too well as my daughter was forced to be in an outpatient psych program where her syncopal POTS convulsions were written up as psych for 8 weeks at the age of 9. Daily she was strapped to a tilt table two times in an 8 hour period, elevated, and was allowed to pass out and convulse being told she could control it.

    As parents, the other option we had was to allow her to be admitted to an in-patient psychiatric ward (ironically the same one Justina has lost 11 months of her life to), or go against the doctors and lose custody of her. It was only after a total of 2 years of this craziness with the culmination of the 8 week unsuccessful outpatient psych program that those same doctors that had labelled her with somatoform disorder (then conversion disorder), were willing to look at some physical reasons for her issues. Needless to say, we are no longer with any of them and not as surprising, now that her true medical conditions are being addressed, she is doing 100% better.

    However, at the age of 14, despite frequent psychological counseling now for that period of time, the scars are still very deep for her and for us. I understand the pressure current day physicians are under, understand the lack of research and documentation for these rare diseases, and understand the lack of knowledge for them, but I wholeheartedly believe that each physician despite all these obstacles, still has the ability to look at a child and say “I don’t know what is going on” instead of prematurely labeling them, creating true psychological issues, putting their health at risk, and creating even more stress on the child and family(financially and emotionally) to satisfy their insecurity or overblown ego.

    These children and families out there trying desperately to just look for a higher quality of life for their children and all of us ask for just one thing of all the physicians out there dealing with or meeting these patients: Please remember that Hippocratic Oath and the most important part of it “First Do No Harm.”

    Sincerely,
    Aurora Richards
    Board Member, TCAPP (The Coalition Against Pediatric Pain)

    Link to this
  8. 8. Diane O'Leary, PhD 10:35 pm 01/15/2014

    I appreciate your comments, Dr. Stone, and the effort by physicians not to be blind to their patients’ psychosocial situations. I agree too that doctors can’t possibly keep up with diagnostic developments, but these factors cannot begin to explain the seriousness of the problem of mistaken somatoform diagnosis.

    Autoimmune disease, for example, is generally not rare, but 45% of autoimmune patients have been wrongly denied medical care because of mistaken diagnosis of somatoform disorders. That’s a staggering 22 million people. On the basis of that figure alone we can conclude that significantly more people are harmed by false somatoform diagnosis than by cancer (with a comparatively small population of 13 million).

    GPs are routinely encouraged not to investigate unexplained symptoms, so that somatoform patients are “protected” from unnecessary tests. Given the prevalence of autoimmune disease, and the rate at which it is misdiagnosed as somatoform, that approach cannot be construed as anything but reckless. Given the fact that doctors see a bare minimum of 2 patients on every working day with rare diseases statistically likely to challenge their explanatory powers, it is an atrocity.

    The anguish Rose describes in “every other mito, POTS or chronic illness person” she knows is certainly not a problem with the natural limitations of human knowledge. Such things cause suffering but not anguish. Rose is talking about the anguish of knowing you’re medically ill as your doctor’s faith in his intuitions about your psyche directly obstruct your right to relief from suffering and protection from harm.

    The source of this problem is systematic vanity. It is the utterly indefensible assumption that what has not been explained by a doctor cannot possibly be explained by a doctor.

    That is the heart of the matter – and it’s a secret that should be shouted from the mountaintops. Research on “medically unexplained symptoms” is research on symptoms with psychiatric causes. The truth is that no doctor has to earn a psychiatric diagnostic label with reasoning – he need only show that a doctor’s power of medical explanation has come up with nothing. With untreated suffering at stake that is unconscionable.

    Link to this
  9. 9. AMOldham 6:59 pm 01/21/2014

    Dr. Stone,
    Thank you so much for this excellent and important article. I am in the trenches of fighting for my 18 year old daughter’s life. She is just now starting testing for mitochondrial disease. She sounds SO similar to Rose that I brought your article to my pediatrician yesterday and will be giving it to all of her specialists. Would Rose possibly share where her team is that have helped her? The three mito specialists we have identified here in California are a struggle to get into and we have had no luck so far.

    Like Rose, after life long issues, and six weeks in the hospital last summer, my daughter was diagnosed with POTS. She has also had stroke -like episodes leading to muscle weakness, terrible dysmotility, swallowing issues and other symptoms and lab results that continue to baffle her doctors. Many take one look at her history and say they are too busy or have no idea what to do. At the moment, she is suffering from nutritional deficiencies and malabsorption (not on TPN yet), and our GI motility specialist moved to another state. She spent last night in the ER. She has no quality of life :-(
    AM

    Link to this
  10. 10. 49er1 3:50 am 01/24/2014

    Dr. Stone, as one who has a tremendous of amount of respect for you, I feel you are missing the point. Yes, physicians are extremely overworked but that shouldn’t prevent them from saying to patients something like this, “I am not sure what is going on in your case but let’s work together to how best to figure it out.”

    Instead, if your situation is not typical, you get pegged with a psych label. I had no idea this was happening in my case until I received a medical review summary from my doctor that put my diagnosis in a psych category when it shouldn’t have been there. Yes, I wrote her to dispute that.

    The good news is since I am an adult, I have the freedom to consult other doctors which I did after disagreeing with another assessment that she made about an issue not being relevant when I felt it was. But tragically, if a parent had done this with a child, that parent would have been in danger of losing custody for not cooperating with a doctor. And the child would have been in great danger of getting a psych label with harmful care and would have been denied medical treatment.

    What is going on with kids getting slapped with psych labels who are really physically ill is abusive and extremely cruel. If this were going on in another country, we would never tolerate it but yet, it has become business as usual. No one seems to give a darn about these abuses. Very sad.

    Link to this
  11. 11. Judy Stone in reply to Judy Stone 3:47 pm 01/24/2014

    Apologies for the delay. Sorry. I don’t know anyone in California. Hers are now in Wisconsin.

    Link to this
  12. 12. HypoGal 11:31 pm 03/12/2014

    Thank You! Thank You! thank you for your compassion and the awareness you create for rare diseases.
    Unfortunately, I have Sheehan’s Syndrome and Relapsing Polychondtritis. I was near death and I was told by numerous doctors my symptoms were all in my head.
    I have learned that your really need to have be your own advocate and you need a strong advocate.
    My Best,
    Lisa aka HypoGal

    Link to this

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