What does it mean to celebrate Rare Disease Day?
February 28, 2022
Every year on February 28 we celebrate Rare Disease Day. Team PHenomenal Hope celebrates Rare Disease Day because we recognize the power of coming together with a larger team in a global race to make a difference. Although each of these diseases affects less than 200,000 people in the USA, together these 7,000 diseases affect over 30 million Americans and 300 million people worldwide. This is a day to lift up and support those living with rare diseases, their families and caregivers, and the medical and research teams and others dedicated to improving the lives of those with rare diseases.
In the United States, a rare disease is one that affects less people than 200,000 people in the USA. In Europe it is defined as a disease that affects less than 1 in 2000 people. The US definition was created by Congress in the Orphan Drug Act of 1983, which helped enable drug development to save the lives of those living with rare diseases. And, if you put this group of people together, we find that living with a rare disease is actually not uncommon. There are over 7,000 rare diseases affecting more than 30 million Americans.
The nature of rare diseases is that people usually suffer from symptoms for a long time — even years — before they get the correct diagnosis. By the time they are diagnosed, the disease may well have gotten worse and more difficult to treat. And having a rare disease can feel isolating, as people without these illnesses do not understand what it is like to live with uncertainty or with medications that can be challenging to take due to cost, side effects, or just to live with a condition that few people know anything about.
Team PHenomenal Hope is dedicated to improving the lives of those living with pulmonary hypertension, a disease that causes high blood pressure in the lungs. There are different types of pulmonary hypertension (PH), including PH associated with left-sided heart disease, and PH associated with chronic lung diseases like COPD and ILD, and these types of PH (affecting 30–70% of patients with left-sided heart disease and 8–84% of patients with pulmonary fibrosis, for example) are actually NOT rare diseases. On Rare Disease Day, however, we hold up the disease of pulmonary arterial hypertension (PAH), which is high blood pressure in the lungs due to a disease of the blood vessels themselves. Approximately 500–1000 new cases of PAH are diagnosed each year in the USA. Because PAH is a rare disease, it often goes undiagnosed for years before people get the proper diagnosis and are placed on the correct medications.
In addition, this effort is personal. While I do not live with a diagnosis of PAH, I’ve come to find through working with teams of people who are dedicated to caring for or researching to find new solutions or educating about this disease, that this shared cause brings us together in an effort around a very special group of people. And, if this makes sense, I feel that working with people living with rare diseases like PAH gives us a glimpse into our shared human existence. We join in this together.
So on this Rare Disease Day, I invite you to reach out and talk to someone you know with PAH or who is living with a rare disease and let them know you care about them. Do something nice for them. Donate to a charity that works to make the world better for people living with their condition. Make today personal.
And if you’re interested in supporting Team PHenomenal Hope in our race to make a difference in the lives of PH patients, you can donate or join our team today! We are recruiting athletes for our Let Me Be Your Lungs program. And by the way, everyone can be an athlete. We have ultra endurance athletes and also athletes who themselves live with pulmonary hypertension. You choose your event and manifest your love for your activity in honor of those living with PH and help us raise funds to support research, education and helping meet patients’ unmet needs.