Imagine the sun’s scalding rays beating down on your back. As you will your legs to continue moving, every step threatens to betray you. Rivers of sweat streak your skin, stinging your eyes. As the blinding daylight obscures your vision, your heart hammers in futility. Your body weakens, and you question your resolve to continue. After all, in this race, there is no finish line.
As many rare disease sufferers know, sometimes the key symptom that leads to a diagnosis may be mundane or bizarre. Whether you are healthy or chronically ill, daily life is full of other concerns to distract you from the seemingly harmless quirks of your body. Many of these strange ailments are completely benign or explained by something you had not considered, but some may be a message from your body that something is wrong.
Keep in mind that most of these symptoms may occur periodically in any person’s life and are easily explained by other causes. If your symptom becomes severe, seek medical attention immediately. If you are experiencing other health issues, however, you may want to mention your strange symptom to your doctor. It could be another clue in finding the right diagnosis.
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. Continue reading The Epidemic No One Is Talking About: Rare Disease [Infographic]
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).
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.
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.
[av_one_half first]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.”[/av_one_half]
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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.
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!
Life with a rare disease can be a lonely experience. Often, no more than 100 or 50 people in the entire world share the same disease. There aren’t the same resources available to these people, or an awareness of the difficulties they face.
Which is why so many people with rare diseases inspire us: they overcome almost impossible obstacles to show us just how much can be accomplished despite limitations and a world that doesn’t understand them.
Below are five beautiful stories (among many) of some people with rare diseases who have inspired many with their bravery and vision.