Category Archives: awareness

Rare Diseases… Not So Rare

advocacy, awareness, Dysautonomia International

RDD_whiteDysautonomia International is pleased to partner with the National Organization for Rare Disorders (NORD) to celebrate Rare Disease Day today.  Did you know that overall, rare diseases are not that rare?

1 in 10 Americans has a rare disease.  That’s over 30 MILLION people, and there are even more people with rare diseases around the world.  Two thirds of people with rare diseases are children.  There are over 7,000 identified rare diseases and new diseases are discovered every year.

What is a “rare” disease?
In the United States, a disease is considered rare if it
is believed to affect fewer than 200,000 Americans.
The European Union considers rare diseases to be
those that impact Screen shot 2014-02-28 at 1.38.48 PMfewer than 1 in 2000 individuals.  Other countries have similar definitions.

What are some examples of rare diseases?
Rare diseases are present across the spectrum of medical conditions.  Most types of cancer are rare diseases. There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.

Within the realm of autonomic disorders there are several rare diseases such as Autoimmune Autonomic Ganglionopathy, Multiple System Atrophy, Pure Autonomic Failure, Familial Dysautonomia, and Dopamine Beta Hydroxylase Deficiency.

What are some of the problems experienced by people who have rare diseases?

  • Difficulty in obtaining an accurate diagnosis
  • Limited treatment options
  • Little or no research being done on the disease
  • Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
  • Treatments that are generally more expensive than those for common diseases
  • Reimbursement issues related to private insurance, Medicare, and Medicaid
  • Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
  • Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

What can you do to help?
Share this blog post on social media or e-mail today.  For a list of other easy ideas to help spread the word about Rare Disease Day, you can visit the following websites:
U.S. Rare Disease Day website
Global Rare Disease Day website

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Postural Orthostatic Tachycardia Syndrome vs. Postural Tachycardia Syndrome

awareness, POTS

POTS or PoTS? Postural tachycardia syndrome or postural orthostatic tachycardia syndrome? What is the correct term to use?

Dysautonomia International uses the term postural orthostatic tachycardia syndrome and the acronym POTS. That’s not to say that PoTS or postural tachycardia syndrome are wrong.  Both terms and acronyms are correct, but there are several reasons why Dysautonomia International uses the longer term.

1. The original term is “postural orthostatic tachycardia syndrome.”
The first article describing POTS was written by Mayo Clinic researchers Dr. Ronald Schondorf and Dr. Philip Low in 1993. They used the term “postural orthostatic tachycardia syndrome” and the acronym POTS.

2. Slightly more journal articles have been published using “postural orthostatic tachycardia syndrome.”
The literature is pretty closely divided, but as of today’s date, if you search on PubMed.gov, the online repository of 23 million medical journal articles abstracts from the US National Library of Medicine, you will find 262 abstracts if you search for the phrase “postural orthostatic tachycardia syndrome.”  If you search for the phrase “postural tachycardia syndrome” you will find 221 abstracts.

3. The general public much more commonly uses “postural orthostatic tachycardia syndrome.”
As of today’s date, a Google search for “postural orthostatic tachycardia syndrome” returns 194,000 results.  A Google search for “postural tachycardia syndrome” only returns 38,100 results.

4. POTS patients and their doctors are more likely to use “postural orthostatic tachycardia syndrome.”
Dysautonomia International asked a large international group of patients what term they used and what term their doctors used.  Over 90% of patients responded that they and their doctors used “postural orthostatic tachycardia syndrome” and POTS.

5. Most importantly, using the term “postural orthostatic tachycardia syndrome” may help patients get better medical care.
Including the “orthostatic” word helps a medical professional, who doesn’t know what POTS is, understand a basic principle; that the person who has POTS has an orthostatic problem. Most doctors and nurses, even if they have never heard of POTS, are aware of orthostatic hypotension and maybe even orthostatic intolerance, and they have been trained how to take orthostatic vitals. Including “orthostatic” in the name of the condition gives two big hints to medical professionals that may not know what to do with the POTS patient presenting in their ambulance, ER or medical office: (1) maybe this person needs to have their blood pressure and heart rate checked in different positions, (2) maybe we need to lay this person down to prevent a faint. A person unfamiliar with POTS would not be  reminded of these clues to the nature of the diagnosis if you simply call it “postural tachycardia syndrome.”

There is no right or wrong answer, but Dysautonomia International believes that anything we can do to help POTS patients obtain better medical care should be taken into consideration.

What term do you use?

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