Friday Blogaround: Rare Disease Day Edition

February 28th is Rare Disease Day. The National Organization for Rare Disorders (NORD) is the U.S. coordinator, working together with EURORDIS in Europe and other organizations around the world to raise public awareness of rare disorders.

Not every disorder listed by NORD is rare in the strictest sense. The National Institutes of Health explains at their Office of Rare Disease Research page:
A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. Certain diseases with 200,000 or more affected individuals may be included in this list if certain subpopulations of people who have the disease are equal to the prevalence standard for rare diseases.
I have Sjøgren's Syndrome (SS), a systemic autoimmune disease first described by Swedish ophthalmologist Henrik Sjøgren. A Swedish-born acupuncturist once spent a painfully long time teaching me to pronounce "Sjøgren" correctly—[ˈxøgɾɛn] using the IPA. Most Americans pronounce it "Show-grin".

Sjøgren's syndrome is in the NORD database as rare, even though up to 4 million Americans have the disease according to the Sjøgren's Syndrome Foundation. However, 50% of those people also have other autoimmune diseases, so their SS is classified as secondary (the other half of us have Primary SS). The hallmark signs of SS include autoimmune destruction of salivary and lacrimal glands, joint pain, and fatigue. But the disease is always systemic and about 30% of all SS patients have more extensive symptoms and signs which may involve the nervous, vascular, and/or digestive systems; the skin, the kidneys, and more. I belong to this delightful 30%. The Sjøgren's Syndrome Foundation website does a pretty good job of listing the various systems that may be affected* (pdf here). Also, 5-10% of SS patients develop lymphoma, so I think the NORD is recognizing these subsets of people in their classification.

Rare or not, SS is under-recognized and tricky to diagnose; the mean time to obtain a diagnosis is over six years (it was seven and a half for me). More awareness in both the medical community and in the general public could speed diagnosis and improve quality of life for patients.

Public awareness of autoimmune diseases in general is quite low even though such diseases are common, affecting 1 in 12 Americans. Rosalind Joffe of Working With Chronic Illness points out in her Rare Diseases Day post that statistical rarity is hardly the only reason for lack of awareness or research funds. So I want to broaden the discussion to include disorders that may not be statistically rare but are nonetheless chronically misunderstood. Also, I am only taking autoimmune diseases as an example from personal experience; there are obviously many other types of disorder that need attention.

Let's get to it, Shakers: what rare or misunderstood diseases/disorders/conditions would you like us to know more about? You don’t have to be a patient yourself to get involved, nor do you need to explain or “come out” if you have a chronic illness. Your health is your business. Please leave us links to pertinent info and blog posts!

To get us started: Rare Disease Day 2009 Focus: Patient Care: A Public Affair! .The site includes photo and video stories from patients.

Rosalind Joffe: Does rare mean you don't need to know about it?

SNiPS, the Children's Rare Disease Network Blog: Rare Disease Facts and Figures: 1 in 10 Americans is living with a rare disease

Mary Kugler, R.N.: Rare Disease Day Video: Little Miss Hannah, about a little girl with Gaucher Disease.

Laurie Edwards: In Preparation: Rare Disease Day

Diana E. Lee: Announcing March Headache and Migraine Blog Carnival

* Please note that they forget the thyroid gland, which is affected in about half of cases according to my rheumatologist. Kind of a glaring omission. Remember: be good to your thyroid, folks, even if it hasn't been good to you!

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