face of a mask-wearing woman with fear in the eye.

The Epidemic No One Is Talking About: Rare Disease [Infographic]

There is an undiscussed epidemic happening in our country, and around the world: rare disease.  Rare diseases are incredibly hard to advocate for, despite the fact that they affect so many people.  Precisely because they are rare, it’s hard for companies to make money off them, doctors to educate themselves about them, and patients to advocate for them.

But combined, as you’ll see in the infographic below, these diseases affect more people than the biggest headline-grabbing diseases on the planet.  And that’s why organizations like UR Our Hope (who we partnered with to make this infographic), are slowly beginning to use the power of the internet and crowd mobilization, to make a case that these diseases need more attention. Read more

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5 Diseases Modern Medicine Missed For A Very Long Time

There was a time in history when nearly every medical condition recognized today was an unidentified mystery.  Rabies victims in Europe inspired stories of the holy water-fearing undead and citizens of Salem suffering from Ergot poisoning were hanged for witchcraft, long before medicine had a name and a treatment for either malady.  As medical research and happy scientific accidents led to discoveries like Germ Theory and penicillin, our ability to identify and address common health concerns grew.

Although we have come a long way since the days of humor balancing and unnecessary bloodlettings, there is still a lot that the healthcare field doesn’t know about the complexity of the human body or its response to our ever-changing environment.  In fact, some of the conditions that we would never second guess today were dismissed by the medical community less than a century ago.  A few of them may surprise you.

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Here Are Some Of The Undiagnosed People You Helped!

To those of you who have given, shared, or supported in any way our crowdfunding campaign to help patients who can’t afford our system, we are so thankful.  We’ve been sharing the progress of these undiagnosed patients on our Facebook page, but we thought it would be great to give a roundup of some of the people whose desperate situation you were able to help by helping the cause.

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What To Do After You’ve Been Diagnosed With A Rare Disease

Rare diseases, also called ‘orphan diseases’ are diseases that affect only a small number of people in the population at any one time.  In the US, a disease is classified as ‘rare’ if it affects fewer than 200,000 people in a given time period, and in Europe if it affects less than one in 2,000.  There are approximately 6,800 such diseases according to the National Institutes of Health (NIH).

Because most rare diseases can cause changes requiring major lifestyle modification (depending on the severity and prognosis), there are several steps you can take to find a solution or to help you cope better with your new situation.

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Lupus Disease

Diagnosis Spotlight: Lupus

Lupus: The Basics

Inside nearly every human body, there exists a vast expanse of cells that fight infection. Like a tiny army, it descends upon foreign invaders and swiftly eliminates the threat. It most cases, it’s a system that works well. In some cases, however, a significant problem arises.

Lupus, occurs when the human immune system destroys infection as well as health tissue and organs. As a result, patients will experience ongoing pain, inflammation, and malfunction throughout the body (Understanding, 2015).

One of the most distinct symptoms of lupus is a persistent rash across the nose and cheeks called a butterfly rash. There are also a host of other symptoms including debilitating fatigue, headaches, fever, pain and swelling on the joints, chest pain, hair loss, and ulcers of the nose and mouth (Diagnosing, 2015).

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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.  

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