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What To Do When The Doctor Says “It’s All In Your Head”

A new phenomenon is rising in prominence in the public discussion of health.  Despite the significant improvement in clinical procedures, a small but important part of the population evades an easy diagnosis.  Often referred to as Medically Unexplained Physical Symptoms (MUPS or sometimes MUS), patients who suffer from these clusters of seemingly unrelated complaints stump general practitioners and specialists alike.

On average, U.S. patients with rare undiagnosed or misdiagnosed conditions wait a little over 7 years for a diagnosis.  The longer a patient waits for an answer to their medical mystery, the more uncertain they feel about not only their health, but also their future.  As time goes on and the uncertainty grows, the chronically undiagnosed start to believe that those around them are skeptical that their illness exists.  Eventually even they start to question, “Is it all in my head?”

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POTS: The Most Common Medical Condition You Never Heard Of

Last month the world recognized Rare Disease Day on February 28th.  There are medical conditions that are not rare at all, but still fall into the abysmal cracks in our healthcare system.  Some might call these orphan conditions.  I live with one of these conditions – postural orthostatic tachycardia syndrome (POTS).

POTS is fairly common, but is rarely discussed in medical school, rarely highlighted by the media, and rarely the focus of pharmaceutical industry interest.  POTS patients are rarefied in every way possible… except for the fact that there are over 1 million of us in the US alone.  POTS might be the most common medical condition that no one has ever heard of.

Mayo Clinic researchers estimate that 1 in 100 teens develops POTS.  Including adult onset patients like myself, there are an estimated 1 to 3 million Americans living with POTS.  85% of patients are female, most often between the ages of 12-50.

POTS is one of the most common forms of dysautonomia.  Dysautonomia (pronounced dis-oughta-no’-me-uh) is an umbrella term that includes many different disorders of the autonomic nervous system, which impact over 70 million people worldwide.  The autonomic nervous system originates deep in the brain and extends from the top of your scalp to the bottom of your feet.  It is responsible for regulating involuntary bodily functions including your heart rate, blood pressure, digestion, kidney and bladder function, temperature control, sweating, tear and saliva production, and even your immune system.  There are very few processes that go on in your body that don’t involve your autonomic nervous system in some capacity.

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POTS symptoms can include lightheadedness, a fast heart rate, fainting, fatigue, chest pains, shortness of breath, GI motility problems, nausea, migraines and more.  Most of these symptoms are due to blood pooling in the lower limbs of POTS patients when they stand up, which doesn’t leave enough blood flowing to the heart, lungs and brain.  The symptoms tend to worsen when the patient stands up, and are improved when the patient lies down.

Experts compare the disability seen in POTS to the disability seen in congestive heart failure or chronic obstructive pulmonary disease. Some patients are able to continue with normal daily activities, but 25% of patients are so disabled by POTS that they cannot work or attend school.  Some patients require the use of a wheelchair or become bedridden.

Many doctors are not familiar with POTS, or perhaps they have heard of it, but are not quite sure how to diagnose it.  As a result, the average POTS patient takes six years to get diagnosed.  While several studies from major academic research centers show that POTS patients have normal psychological profiles, about 85% of POTS patients are given psychiatric labels prior to being diagnosed with POTS.  The multitude of symptoms caused by their autonomic dysfunction are often dismissed as anxiety or they are told that their symptoms are “all in their head.”

How is POTS diagnosed?

POTS is most often diagnosed using a tilt table test, but when this is not available, some doctors may use do an active stand test, also called a “poor man’s tilt.”  If POTS is suspected, the patient should be referred to a doctor with experience in diagnosing and treating POTS.

Without a doubt, POTS is not “all in your head.”  While the exact cause of POTS is unknown, researchers have made some progress in understanding the condition.  20% of POTS patients have evidence of cardiac autonomic neuropathy and 50% of POTS patients have sudomotor neuropathy – both parts of the autonomic nervous system.  Researchers at Harvard are currently studying abnormalities in the vasomotor nerves in POTS patients – also part of the autonomic nervous system.  The vast majority of POTS patients have low blood volume, with deficits in both plasma and red blood cells.  Male and female POTS patients are more likely to have iron storage deficiencies than healthy individuals.  A significant percentage of POTS patients also have Ehlers-Danlos Syndrome, an inherited connective tissue disorder.  Perhaps most interestingly, there have been several studies in the past few years that have identified evidence of autoimmunity in POTS patients, including antibodies that target the autonomic nervous system.  Research in this field is ongoing.

While there is no cure at this time, there are treatments that may help manage symptoms.  Non-pharmacological treatments include increased salt and fluid intake, medical compression stockings, recumbent exercises, eating smaller meals throughout the day, and avoiding prolonged standing and hot environments.  Pharmacological treatments commonly used in POTS are aimed at expanding blood volume (fludrocortisone, desmopressin), improving vasoconstriction (midodrine, phenylephrine, octreotide) and reducing tachycardia (beta blockers, ivabradine). Other medications may be used, depending on each patients’ unique presentation.

Another similarity between POTS and rare diseases is a lack of research funding.  Everything we know about POTS has been discovered with less than $1 million a year in National Institutes of Health (NIH) funding.  While $1 million may seem like a lot of money, for comparison, multiple sclerosis impacts 400,000 Americans and receives over $100 million in NIH funding per year.  Parkinson’s disease impacts an estimated 1 million Americans and receives over $135 million in NIH funding per year.  Imagine what scientists could discover about POTS and what new treatments might be developed if the NIH invested 100 times more money in POTS than they currently do?  A girl can dream…

 

Guest author Lauren Stiles is a New York attorney and co-founder of Dysautonomia International, the leading non-profit advocacy organization for individuals living with POTS and other disorders of the autonomic nervous system.  Dysautonomia International funds research, educates medical professionals and empowers patients to be their own best advocates.

If you’re worried about any undiagnosed symptoms you have been having, CrowdMed, with its teams of Medical Detectives can help you find the answers you’re looking for.  Click here to find out more about us.  

Click here to get your case reviewed immediately.

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Facts About Lyme Disease That Even The CDC Doesn’t Know

More than 30 years after being an identifiable and reportable illness, Lyme disease continues to be a hotly debated issue inside and outside of the medical community. There is a wide spectrum of opinions when it comes to how the disease manifests itself and how frequently the medical community believes the disease should be diagnosed.  Are the current tests accurate or inaccurate, how long should treatments last and what should those treatments look like?  Can this disease become chronic? 

The CDC is one of the most respected sources on disease information in the United States. However, when it comes to Lyme disease, they have a history of not reporting all of the facts. With such a powerhouse source relaying so much misinformation, confusion surrounding this debilitating disease remains one of the primary reasons it goes so under and misdiagnosed, as well as untreated.

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Facts About Lyme Disease: The Misunderstood Condition

Lyme disease can present with a wide range of symptoms, resulting in frequent misdiagnosis. The most common presentation includes fever, fatigue, headache, and a bull-eye rash at the location of infection, but as many as half of infected individuals never report a rash and present with other symptoms.

And, you may be surprised to hear that the most diagnosed illness on CrowdMed is Lyme disease.  The issue of misdiagnosing and not even arriving at a diagnosis at all when someone has Lyme disease is clearly a problem.

EDITOR UPDATE: Several readers pointed out some outdated information referenced in the original overview. There’s nothing worse for patients than trying to fight prevailing “wisdom” in the medical community, which simply isn’t true anymore. We’ve updated this post accordingly. By the way, we’ll also soon be publishing an article by one of our patients, highlighting her personal experience and frustration with Lyme disease. Stay tuned!

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What Balloons Can Teach Us About Crowdsourcing Medicine

When searching for a cure for an uncommon disease, doctors and medical detectives are confronted with a difficult knowledge problem. The correct answer is out there, but it’s likely known only to a handful of people, dispersed among a lot of people who haven’t a clue, or worse, have the incorrect diagnosis. How can we separate the knowledgeable from the clueless? The solution might have a lot to do with balloons.

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Are You At Risk For A Genetic Disorder?

Note: this will be the first in a three-part series about addressing the new world of knowledge about genetic disorders.  This first post will be about assessing the chances that we may be at risk for a genetic disease.  Future posts will address what we can do with this knowledge.

 

We live in a relatively new era of medicine in which the genome is sequenced, and we are learning more each year about what genes do and how they might be related to disease. As physicians become more aware of the genetic links between patients and their diseases, patients can and should arm themselves with the knowledge they need to manage this new age of information.

I’d like to discuss a few hallmark features that might be present in your family history which could indicate a genetic disorder in your family. As with approaching the rest of your healthcare needs, knowledge is power!

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