Am I Doing Enough to Bring Awareness to My Rare Diseases?

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by Mark Koziol |

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Rare Disease Day takes place on Feb. 29. BioNews Services, the parent company of this website, has taken on this initiative in an all-out effort to bring awareness to rare diseases, of which over 6,000 have been identified.

I often ask myself, “What will you do to bring awareness to your disease?” My answer is, “I bring awareness every day.” I bring awareness to pulmonary fibrosis (PF) through my work here at Pulmonary Fibrosis News and when speaking with people in more casual settings.

I have also been fortunate to speak with representatives of Genentech and Boehringer Ingelheim, the marketers of two antifibrotic medicines, Esbriet (pirfenidone) and Ofev (nintedanib), respectively. These are the only medicines currently on the market to slow the progression of idiopathic pulmonary fibrosis (IPF).

Although this disease inflicts its wrath upon thousands of people, it is still relatively unknown to the general public. Even more amazing is that almost the same number of deaths are attributed to PF as breast cancer in the U.S., according to the American Thoracic Society, but we rarely, if ever, hear this statistic.

I was diagnosed with IPF in December 2014. Less than a year later, I was given a second chance at life with a single-lung transplant. I am extremely grateful for what has transpired since my transplant.

I battle with myself about which medical condition I should spend my time on. I have an IPF diagnosis, and I still have IPF in my body because my left lung is fibrotic. Thankfully, it doesn’t affect me as it did before my lung transplant. IPF is a rare disease. While a lung transplant does not have its own rare disease category, lung transplants are rare and involve ongoing medical assessment and medications.

I also have two other rare diseases: a rare blood disorder called autoimmune hemolytic anemia (AIHA), diagnosed in 2003, and achalasia, an esophageal motility disorder that was only discovered during my pre-transplant evaluation testing.

My way of looking at life changed drastically after my transplant. My pre-transplant mantra was, “Avoid dying.” Post-transplant, it changed to, “How I am going to keep living?” Now I say, “It is hard work trying to stay alive.”

As a forums moderator and columnist for Pulmonary Fibrosis News, I can provide support for the PF and lung transplant communities. Some people need guidance about what to expect in the matriculation of the disease. Others need advice gleaned from personal experience about what to expect during the pre- and post-transplant process. I am by no means an expert on these conditions, but I can offer meaningful advice.

Sometimes when I am speaking with a stranger about my medical history, I get a look that conveys a question like, “How are you still alive?” As I mentioned, I was diagnosed with AIHA years before I developed IPF. Fortunately, this idiopathic disease that suppresses my bone marrow’s production of red blood cells has not inflicted too much damage on my body, and I control it with medication. Doctors initially thought that my spleen might be causing it, but further testing ruled that out.

After my transplant, my medical team’s pharmacist visited me in my hospital room and told me that I had brought him some sleepless nights. He explained to me that my AIHA was interfering with the chemical properties of my antirejection medication. I realize that I presented as a difficult transplant case due to my rare diseases, and I feel grateful for the medical professionals who worked on my case.

My achalasia diagnosis almost threw a monkey wrench into my transplant hopes. It was discovered during a manometry test for my pre-transplant evaluation protocol. I am asymptomatic and was unaware that I had this rare disease. I was worried about eligibility because some patients with this diagnosis are denied listing for a lung transplant. I am grateful that I was approved.

This Rare Disease Day, I will be more cognizant of the need to spread awareness on my social media accounts and through my personal contacts. I hope that my readers, friends, and acquaintances will do the same. I believe that there is strength in numbers.


Note: Pulmonary Fibrosis 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 Fibrosis News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to pulmonary fibrosis.


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