PHighting for Rare Disease Awareness on Feb. 28

“It’s about the journey, not the destination,” is an oft-quoted phrase that is meant to remind us to be in the present and savor the special moments along the way, instead of being preoccupied with that next destination. This saying takes me back to my high school English class in freshman year, when my teacher implored us young whippersnappers not to rush through the next four years of our lives.

Flash forward 20 years later, and I’m thinking about that phrase an awful lot. This time, though, I am focused on my journey with pulmonary hypertension — a rare, progressive heart and lungs disease with no cure. Hmmm … no cure? Does that mean the destination is unknown? And, if it is unknown, what, then, does the journey look like going forward? After getting our diagnoses, are we all just Alice peering through the looking glass? Are we all waiting for the Jabberwocky to track us down? Well that’s just nonsense, right?

I reflect on the journey to the diagnosis — the destination when the cause of my symptoms was still a mystery. The eight months leading up to the diagnosis were confusing, tedious, and uncertain. I presented shortness of breath, and the doctor diagnosed me with asthma. I dutifully did the tests and took the medications, hoping that prednisone and inhalers would do the trick. I was somewhat surprised to see that I didn’t respond to the medications. Multiple members of my family have asthma, and that diagnosis would have just been the easier, more familiar road to go down. I’m sure the doctors felt the same way.

More tests brought more frustration and, along with that, some in-home oxygen tanks to help address that worsening shortness of breath. It wasn’t until a self-prompted trip to urgent care (which became a nearly two-week hospitalization) that doctors finally determined PH. And while PH might be rare, I quickly discovered that these long, misdiagnosed journeys to “destination diagnosis” were anything but. It’s not uncommon for people fighting rare diseases to go through multiple rounds of misdiagnoses that can be painful and filled with hundreds of questions without an answer in sight. I remember echocardiogram after echocardiogram, along with a stress test, where results would all come back normal — the doctors did not seem to even have PH on their radar.

Rare Disease Day 2018

Helping shorten these long journeys of misdiagnosis is one reason I think it is important for those of us in the rare disease community to increase awareness and understanding among the larger public. My story, and the stories of many other PHighters, show how PH and other rare diseases can present themselves as symptoms of other diseases, leaving doctors and specialists to traverse a maze of test results, patient history, research, and consultation to determine the proper diagnosis.

Wednesday, Feb. 28 is Rare Disease Day, a worldwide event that puts rare diseases center stage to highlight how these diseases affect people’s lives and educate policymakers, elected officials, researchers, and health professionals, among others. One in 10 Americans live with a rare disease. A disease is considered “rare” if it affects 200,000 or fewer people. The American Heart Association estimates that between 500 and 1,000 new cases of pulmonary arterial hypertension are diagnosed annually.

“Research” is the theme for this year’s Rare Disease Day. The organizers of this awareness campaign emphasize the need to increase patient involvement in research, and they credit the progress made in rare disease research to an active patient community that continues to speak out about the importance of funding such valuable research.

The National Heart, Lung, and Blood Institute is one of the 27 National Institutes of Health (NIH) in the United States that drives medical research through its own research and funding for training, education, and additional investigations. It is through research that scientists and medical experts discover new breakthroughs in treatments and potential cures for rare diseases.

One way to participate in Rare Disease Day is to call or write to your U.S. representative in Congress and urge them to support increased federal funding for rare disease research. The Trump administration’s 2019 budget proposal keeps NIH at its same 2017 funding level with no increase, and Congress will debate whether to raise or lower that proposed funding level.

There are many other ways to join 94 countries around the world in participating in Rare Disease Day on Feb. 28, including the #ShowYourRare social media campaign.

Considering the new treatments coming out for PH, I am hopeful that ongoing research will result in new developments and, eventually, a cure for PH. Perhaps more education and greater awareness will help ease what can be a difficult journey to diagnosis. Now that I have my diagnosis, I am doing my best to make sure my journey is filled with awareness, advocacy, and support wherever this PHight takes me.

Follow Mike Naple on Twitter @mnaple.

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Note: Pulmonary Hypertension News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pulmonary Hypertension News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to pulmonary hypertension.