Why Patient Advocacy for Rare Diseases Is Important
/By Joanna Mechlinski, Guest Columnist
If you’ve been relatively healthy throughout your life, you tend to have a lot of faith in doctors. You believe that when a person gets sick, they simply go see a doctor and soon everything is better.
Movies and television only serve to bolster that impression, as characters frequently show up in hospitals with a baffling array of symptoms, only to have a doctor dedicated to the case quickly diagnose them.
Even if it’s a rare disease or condition which the doctor has never seen outside of a textbook, they will piece it all together successfully -- often continuing to puzzle it out after their work day has ended. The patient then receives medication or therapy from specialists. It’s understood that while recovery might take a while, it’s generally always possible.
Unfortunately, in real life, things often don’t work out this way. You might explain your symptoms to the doctor, who orders blood tests and other diagnostics. When the results come back, they’ll shrug and tell you they simply don’t know what’s the matter. As your symptoms increase, so does your desperation for relief, so you try other doctors and medical facilities, often with the same outcome.
In the U.S. we use the term “rare” to describe a disease that affects fewer than 200,000 individuals (in the EU it’s fewer than 1 in 2,000 people). But the reality is many of these diseases aren’t all that rare. They simply aren’t as common as things like breast cancer or diabetes. The National Institutes of Health’s Genetic and Rare Diseases Information Center says there are approximately 7,000 rare diseases.
In 2005, I was diagnosed with polymyositis, a rare disease that causes muscle inflammation and atrophy. I had never heard of it, nor had any of my family or friends. Go ahead and Google it -- you will quickly see just how little information exists, aside from basic definitions and the occasional patient GoFundMe. Yet per The Myositis Association, there are an estimated 50,000-75,000 people affected by a form of the polymyositis in the U.S.
Following my diagnosis, I made appointments with many specialists, some in world-renowned facilities. They seemed to know little more than I did, and I often found myself explaining various elements of the disease to them.
It would have been easy to simply give up. If much of the world didn’t even know my disease existed, then how could I hope for understanding from family and friends, much less treatment or a cure?
I learned a few lessons quickly about being a patient advocate, which I still follow today:
Tell your story: Yes, sometimes it’s hard to reveal personal details. But in this instance, I believe I need to use my life to educate others. What if someone else has a form of myositis, but is still undiagnosed? Both doctors and patients need to keep the condition in mind when viewing certain symptoms. I have written many freelance articles about polymyositis for various publications, and I am now writing a book.
Contact lawmakers: Yes, people often grumble politicians don’t do anything for them. But how can they even consider getting help for a problem they don’t know exists? Reach out to lawmakers at the local, state and federal level. Tell them about your disease and how it affects your life. Tell them what you and others with the condition need.
Connect with others: Thanks to the Internet, it is now easy to find people sharing an illness, regardless of how rare it is. It’s also easier to keep in touch when in-person visits may be difficult due to pain, fatigue, travel costs, etc. Making friends with people who have similar conditions can be very beneficial, particularly when sharing information about medications and treatments. It can also be a godsend to simply vent and gain support from a person who truly understands what you’re going through.
Under the guidance of the National Organization for Rare Disorders (NORD), the first Rare Disease Advisory Council (RDAC) was created in North Carolina in 2015. The goal was to strengthen the rare disease community’s voice in the state legislature.
Patients and their families, caregivers and medical providers then banded together in other states. By the end of 2021, NORD reports that legislation creating more RDACs had been signed into law in Florida, Louisiana, Massachusetts, New Jersey, Ohio, South Carolina and Virginia. In all, Project RDAC contacted 254 legislators and introduce 11 RDAC bills.
Being diagnosed with a rare disease while in my 20’s was not exactly among my childhood dreams for the future, but I’m far from resigned. I recall how diabetes - today usually considered a fairly manageable condition - was a death sentence until well into the 20th century, when insulin was discovered.
Who’s to say that polymyositis and other rare diseases might not veer onto a similar path at any time? Until then, I will do my best to advocate and educate.
Joanna Mechlinski is a former journalist who currently works in school transportation. She lives with lupus, polymyositis and fibromyalgia, and is passionate about advocacy.
Pain News Network invites other readers to share their stories with us.
Send them to: editor@PainNewsNetwork.org.
