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.