Rare Disease Day: Creating Awareness for Myositis

Updated on March 18, 2019
Ladymermaid profile image

Mother of 2 daughters and grandmother of 6 I strive daily to achieve an optimum level of health and happiness. Life is all about the balance

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Origins of Rare Disease Day

It was created in Europe in 2008 by EURORDIS and its Council of National Alliances. Canada joined in the event's first year followed by the U.S. a year later. By 2017, there were 94 countries participating annually in this event.

It Symbolically Falls on the Last Day in February

Since the first celebration of Rare Disease Day in 2008 on February 29 (a "rare" day that only occurs every four years), the last day of February has become a symbol of rare diseases and the need for more awareness. 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 less known conditions.

For those of us who have a rare illness, awareness and understanding are crucial in getting the appropriate diagnosis and treatment. This is a date I would rather not celebrate, but one that I do nonetheless. Previously healthy, I was hit hard by a sudden illness in 1986, but an accurate diagnosis didn't arrive until a much later date—and even then, with much misunderstanding on how I should be treated.

Now over 30 years after my diagnosis, doctors are just beginning to slowly unlock the mysteries behind my rare disease. I have anti-Jo1-antibodies—antisynthetase syndrome—and I want you to understand my illness.

What Makes It "Rare?"

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 noticed almost immediately that there were issues when swallowing food or liquid.

Diagnosed With Anti-Jo1-Antibodies and Polymyositis

With these symptoms, I was diagnosed as having severe rheumatoid arthritis. This was a misdiagnosis. Two years later, 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 was be some confusion as to what they represented.

A Near Breakthrough, but Much More Work Still Needs to Be Done

About a year later, a team of medical students 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 early years, antibodies were simply diagnostic tools—nothing more. Due to the rarity of many of these antibody-related muscular illnesses, they tended to be ignored as a possible cause. These illnesses were lumped under one general condition: myositis.

The Struggles of Having a Rare Disease

Looking for Answers—and Just a Bit of 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 childlike 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 already done. I was now beyond disappointed in the medical community. I didn't make another physiotherapy appointment.

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.

Searching for Answers Elsewhere

Trying but getting nothing out of countless visits to the doctor, I went online, and I found my answers there. I survived. For many years after, I restricted the number of times I would visit a doctor. I would go only to refill my medication 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. Even today, that is still sometimes true.

The biggest takeaway is that patience, research, and finding educated, understanding doctors is so very important.

So How Do You Celebrate a Day You Wish You Didn't Have To?

It is all about awareness. The more knowledge others have about these rare health conditions, the less confusion they will face in their diagnoses and treatments. This can be the difference between life and death—or a simple matter of finding respect.

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 do, thus patients seeking treatment for their uncommon condition cannot find the right one, or none at all.

Awareness = Donations = Research = Better Treatment

For myself, it is a day to share information about my illness on social media, such as Facebook, Twitter, LinkedIn, and Pinterest. It is also the reason that I am writing this article—to create awareness.

It Isn't Always Evident

Do you know someone with a rare condition?

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This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2018 Lorelei Cohen

Do You Know Someone Who Suffers From a Chronic Health Condition?

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    • Ladymermaid profile imageAUTHOR

      Lorelei Cohen 

      21 months ago from Canada

      Yes, having a chronic illness does indeed make you a fighter in more than one way. You become an advocate for yourself and for others who follow behind you. Respect is such a very important right when you are fighting for appropriate treatment. Flourish I had to smile when you spoke of calling your husband. I had one doctor who I had my sister come sit in an appointment with us and it is amazing how quickly his attitude changed. There is some humor in much of it once you are no longer in that vulnerable position. Stay well and strong.

    • FlourishAnyway profile image

      FlourishAnyway 

      21 months ago from USA

      I’m sorry about your health problems but worse is the lack of dignity which which you have been treated. MS has brought out in me a fighter who will demand respect and good customer service as a patient. I’ve had to occasionally ev n yell to get my point across. When I was undergoing some testing (a spinal tap) they forgot to get my signature on a form before giving me Valium for the procedure (which is uncomfortable and frightening). I was on the table ready for the needle and they said I needed to let the meds wear off then sign the form then take the meds again and before undergoing the procedure — all because someone messed up and didn’t get me to sign a form earlier. It would be hours and hours of waiting unnecessarily. I had listed my husband as health care power of attorney and for some reason they wouldn’t accept it. They also wouldn’t let me sign the form while medicated. So as they wheeled me back to my room I shouted at the top of my lungs for my husband, “Harold, they f-cked up!” The doctor quickly decided the healthcare power of attorney was good enough after all and they wheeled me right back in. Making noise helps.

    • AliciaC profile image

      Linda Crampton 

      21 months ago from British Columbia, Canada

      I'm sorry that you've had such a difficult time with your health, not only because of the symptoms that you have experienced but also because of the horrible way in which you've been treated. I'm glad that things have improved now that you've found doctors who understand what's going on.

      In answer to your question at the top of the comments section, yes, I do know someone with chronic health conditions. Like you, she experienced a period when it was hard to convince doctors that she was experiencing problems. Things are much better in that respect now, but she still has the conditions.

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