‘Making Our Voices Heard’: Rare Disease Day 2016

Last year, when I wrote about Rare Disease Day, a friend asked, tongue firmly in cheek, “Why not have Rare Disease Day on February 29th?” I admit that when I learned about Rare Disease Day several years ago, after I was diagnosed with one, a similar joke crossed my mind. Each year, the last day in February is the date for International Rare Disease Day, and Leap Day, that quadrennial day, is a good one for us to remind the world that rare diseases are not at all rare.

Today, February 29, is International Rare Disease Day, and “Making the voice of rare diseases heard” is this year’s slogan.

Rare Disease Day was first established in 2008 by EURODIS, the European Rare Disease Organization. In 2009, the National Organization for Rare Disorders (NORD) in the United States joined the effort to educate the public.
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‘Day by day’: Rare Disease Day 2015

“Day-by-day, hand-in-hand.” Today, February 28, is International Rare Disease Day, and “Day by day, hand in hand” is this year’s slogan. As slogans go, “#TheDress” might have received more attention today, but tomorrow the world will not remember this week’s Twitter trends and millions of people will still be living day by day with rare diseases.

Rare Disease Day was first established in 2008 by EURODIS, the European Rare Disease Organization. In 2009, the National Organization for Rare Disorders (NORD) in the United States joined the effort to educate the public. This year’s theme is “Living with a Rare Disease.” Some rare diseases are life-shortening, and even kill in infancy. All of them are life-altering.

Once upon a time, rare diseases were called “orphan diseases,” and, really, neither term alone quite conveys the concept. One rare disease may affect only a few individuals, making it something that is rarely seen; diseases and conditions that affect just a few people are sometimes viewed as research dead ends, “orphans” in drug and treatment research. The medical industry wants to aid the greatest number of people, and research money is hard to win for research into a condition that affects only a few thousand individuals.

Rare is not so rare, however. There are about 6000 rare diseases that are officially recognized as such; since each one affects (by definition) fewer than but up to 200,000 people per condition, some researchers estimate that 300 million people around the globe have a rare disease. That is about one in 25 people on the planet.

If you visit a restaurant tonight or go see a movie, a couple of us with a rare disease are hanging out with you. Hello.
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Rare Disease Day 2014

One friend has antiphospholipid antibody syndrome, which causes blood clots to form in any blood vessel in the body and leads to transient ischemic attacks (TIAs), or what she cheerfully refers to as “mini-strokes.” (Most people who have recurring TIAs call them mini-strokes; my friend has the happy quality of coming away from hers with anecdotes about the experience that make them almost sound like something I want to have, too.)

One of my closest friends has fibromyalgia, a disease of chronic pain with a “here today, gone tomorrow, here again and worse” pattern-less pattern of symptom presentation that sometimes renders her almost breathless with the pain. Everyone experiences physical pain, but a full-body stabbing pain with no traceable cause, and thus not many ways to treat it?

Other friends have multiple sclerosis, one whose symptoms are affecting his balance and control of his legs, and one whose hands are malfunctioning. One other friend has a form of epilepsy that is triggered by sleep deprivation yet also causes insomnia, which is one of the most vicious of vicious cycles I can imagine.

I have spinal muscular atrophy, type 4, a progressive, degenerative neuromuscular disorder. I have difficulty walking, because I am losing muscular control of my legs and my balance is affected because my legs from the knees down do not function.

Each of these conditions is a rare disease or a special form of a disease that makes it rare. Sadly, my personal, anecdotal experience with rare diseases is that they are not so rare, but each disease I mentioned above affects fewer than 200,000 Americans apiece, making each one a “rare disease.” However, there are almost 7000 officially recognized rare diseases in total, so rare diseases affect some 30 million Americans, or almost one in 10 people. Eighty percent of rare diseases are genetic in origin and fifty percent affect young children.

Rare_Disease_Day_animated-gif-400pxFebruary 28, today, is International Rare Disease Day. Rare Disease Day was first established in 2008 by EURODIS, the European Rare Disease Organization. In 2009, the National Organization for Rare Disorders (NORD) in the United States joined the effort to educate the public, advocate for better care, and shape policies to improve access to health care. This year’s theme is “Join Together for Better Care.”

 
Even though some 30 million Americans have a rare disease, and many millions more have rare diseases around the planet, each disease affects relatively few people, so rare diseases are also known as “orphan diseases.” The medical and pharmaceutical industries do not have a stellar history with treating rare diseases; drugs for rare diseases are called “orphan drugs,” because they do not address a family of disorders. In the video below, Sean Hepburn Ferrer, son of Audrey Hepburn and Mel Ferrer, addresses this issue. His mother died in 1993 from a rare form of cancer, Pseudomyxoma adenocarcinoma, that had not been researched in decades. A diagnosis was difficult to come by and treatments were limited to decades-old knowledge.

Those who care for and live with people with rare diseases are also affected by the disease and the sometimes grueling path to diagnosis. My family, my friends, and my girlfriend have walked with me every step of my path and keep me upbeat, encouraged, and sane. This day, honoring care for those with rare diseases, honors them, too. I love them.