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.
February 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.
I don’t even know what to say.
Nothing that could come across as genuine at least.
I can’t imagine what you have to deal with day by day.
I can’t imagine how so many people can be so sick, when I treat my own health with such….non-concern?
Is it bad to feel guilty that I have not discovered a monster hiding in my body?
But, i do.
I mean I’m glad that I have gotten this far in my life basically unscathed, and I know that I have been extremely lucky compared to so many others.
Awareness is what you brought me this morning.
I will pay more attention.
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For most of my life I treated my own health with a non-concern that bordered on the self-treasonous. When I was growing up. my younger sister had a benign growth on her pituitary (she came through the experience not unscathed–she was scathed–but she is now a happy, professional woman) so the bar for potential reasons to see a doctor was set pretty high for me: brain tumor. Nothing less. And I had another monster inside me–addiction–so anything that might interfere with my daily plans to get buzzed was nothing I wanted to participate in. So I sobered up and got my general health back but then learned that something else had been sitting and waiting.
I am very grateful for your words–hugely genuine and moving and encouraging–and I enjoy your blog posts. I’m pleased to make your WordPress acquaintance.
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You have a rare assortment of friends 😉 That is the thing with these diseases, it makes a person a grenade (reference to/from “The Fault in Our Stars”: John Green) – they are not the only one affected. *raises glass of pepsi-but-we’ll-say-champagne* To our loved ones.
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I raise a glass of Pepsi to you, too, Fi. We in the unique conditions club seem to attract each other.
Reblogged this on The Gad About Town and commented:
International Rare Disease Day is February 28, 2015. Here is my column for last year’s RDD. There will be more this month. Thank you for reading, Mark
I feel you when you say that your experience with rare diseases is that they’re not so rare. My brother’s girlfriend has Neuro-Behçet Syndrome, an aquaintance of mine in Austria has Central Core Disease, one of my sisters has Idiosyncratic Thrombopathy (ITP), another of my sisters has MS and yet another of my sisters has Lupus. So many people have rare diseases around me, thre of those are my sisters, all with an auto-immune disease. I sometimes wonder if something will hit me too, and rather hope I’ll never find out. I’d rather just support everyone I know and beyond. Thank you for sharing!
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Reblogged this on aBodyofHope and commented:
One of my favorite writer/bloggers, Mark from The Gad About Town discusses the importance of Rare Disease Day. He shares his experience with his own rare disease, SMA and how it effects his body.
I live with my own “rare” diseases like POTS, CRPS, and IH to name a few. Many would argue that these are not rare given the estimated number of people living with the same illnesses. In the medical world however, these conditions are so rarely known.
My friend and blogger Mark from The Gad About Town so eloquently explains what it means to have a “rare” illness, and explains why we share information on occasions like Rare Disease Day.
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