Since the first celebration of Rare Disease Day on February 29 2008, the last day of February has become a symbol of rare diseases and a shout out on the need for more awareness of these illnesses. It now falls on either February 28th or 29th each year.
Rare diseases often do not receive as much funding as more well-known conditions do so this day encourages awareness that can lead to increased investment and research into these lesser known conditions. For those who have a rare illness, awareness and understanding are crucial in getting appropriate diagnosis and treatment.
This is a date I would rather not celebrate but one that I do none-the-less. Previously healthy, in 1986 I was hit hard by a sudden onset of illness. An accurate diagnosis of my health condition didn't arrive until a much later date and, even then with much misunderstanding on how I should be treated. Now over 40 years after my diagnosis, doctors are just beginning to slowly unlock the mysteries behind my rare disease. I have anti-Jo1-antibodies which are an indicator for antisynthetase syndrome. I want you to understand my illness. I want the world to understand my illness.
In Europe, a rare disease is defined as a health disorder that occurs in less than 1 of every 2000 individuals. In the United States, it is defined as a disorder that affects less than 1 in 200,000 individuals. There are about 7000 illnesses that fall into this category. The list can be found here: https://globalgenes.org/rarelist.
It Can Happen to Anyone. I became disabled in what seemed like the blink of an eye. I went to bed normal and woke up to a new me. I was stiff like a tin soldier, exhausted, and in pain. My mind felt like it was lost in a fuzzy cloud that neither coffee nor rest could shake. My muscles were weak and unbearably sore, my breathing shallow, and I at my first meal I noticed almost issues when issues when swallowing food or liquid.
With these symptoms, I was diagnosed as having severe rheumatoid arthritis. This was a misdiagnosis. I would later be diagnosed with Anti-Jo1 Antibodies / Polymyositis and following that with a final diagnosis of Antisynthetase Syndrome. About two years after my initial diagnosis of severe rheumatoid arthritis an internist (doctor of internal medicine) discovered that I had anti-Jo1-antibodies and diagnosed me with polymyositis. I would love to say that from that point forward my treatment went like a breeze, but that was not the case. Considering that anti-Jo1-antibodies are rare and that they had only just been discovered in 1980, it is little wonder that there was be much confusion as to what this actually represented.
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| My left arm would not lower to my side. |
About 3 years after my initial diagnosis I was taken before a team of medical students. One of them brought up the fact that anti-Jo1-antibodies were a marker for antisynthetase syndrome: a combination of polymyositis (muscle inflammation), poly-arthritis, interstitial lung disease, mechanics hands, and often, severe Raynaud's Syndrome. If my doctors had considered this more closely I may have been able to receive better treatment for my symptoms. But for some reason this tidbit was largely ignored and I remained diagnosed with only polymyositis. In the picture above I had attempted to work part time at a call centre. Simply hitting the yes and no button inflamed the muscles in my hand, arm and shoulder.
In the early years, antibodies were simply diagnostic tools and nothing more. Due to the rarity of many of these antibody-related muscular illnesses, they tended to be ignored as a possible cause. My disease and others alike it were lumped under one general condition: Myositis.
The Struggles of Having a Rare Disease
Looking for Answers and a Little Respect. When I told a specialist that I was experiencing issues with swallowing and breathing, I was told that I shouldn't be because these are not aspects of my illness. My complaints of severe fatigue were met with the same response. I told him that I was in extreme pain, and he quite firmly responded, "No, you are not." This turned into a childish back-and-forth of "Yes I am!" and "No you aren't." I refused to see him again, and that was the end of that.
During a range of motion physical therapy session, an aggravated physiotherapist shouted out, "I told you to bend your toes!" I sat up and quickly bent my toes three times while I shouted back, "I did!" only to discover that my toes remained straight. She growled out, "Oh, come off it" as she grabbed my toes with both hands and attempted to force them into a bent position. Of course, they wouldn't bend. She then muttered "Oh, I guess you are stiff." But her words didn't make me feel any better. By that point, the damage was done. I was now beyond disappointed in the medical community. I didn't make another physiotherapy appointment till many years later.
Whether it was a misunderstanding or an unwillingness to try to understand, either way for me it did not matter, the result was the same. I cannot count the number of times I was told that the symptoms I claimed to be experiencing were not real or how often I was made to fight for that simple little thing known as respect. This is how so very many of us with rare diseases live our lives. We can often find ourselves in a very vulnerable position with little direction to turn.
Trying but getting little benefit from of the countless visits to doctors and specialists I went online. There I discovered my answers. For many years after I restricted the number of times I would visit a doctor. I would make appointments only to refill my medications or if a medical situation arose that I could not deal with myself. From my experience, they did not know enough about my illness to understand what I was experiencing so it wasn't worth my visiting them. Even today that is still sometimes true. myositis.org was a lifesaver for me, I was understood, and I survived with their understanding and advice. The biggest takeaway from my experiences in those early years is that patience, research, and finding educated, understanding doctors is vital.
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| Now confined to an electric wheelchair |
Rare Disease Day can be the catalyst that encourages a person, group, or organization to raise funds for research. Rare illnesses often don't have the funds for research that more well-known illnesses. Currently when patients seek treatment for their uncommon condition they often cannot receive an accurate diagnosis or sometimes cannot find many answers for treatments to aid their symptoms.
Awareness equals Donations which equals Better Research which provides Better Treatments. February 28th and 29th are Rare Disease Day and a date when I and others in the same position as myself will share information about our illness on social media platforms such as Facebook, X, LinkedIn, and Pinterest. Creating awareness is also the reason that I am writing this article today.