Reflecting on the things that make pulmonary hypertension rare
This Rare Disease Day, let's raise awareness of the unique aspects of PH
In the spring of 1999, at the age of 3, I developed a hoarse voice. My mother thought that maybe I had a cold, so she brought me to my pediatrician for a checkup, expecting a prescription for antibiotics at most. This was the first of many misunderstandings about my rare illness.
The umbrella of pulmonary hypertension (PH) is complicated and, at times, abstract. But each unique case of this disease tends to be severe and progressive, setting PH apart from the ailments it’s often mistaken for.
Receiving a PH diagnosis can be a long process. Shortness of breath can be mistaken for asthma, and fatigue may be associated with better-known issues like sleep apnea. Many medical professionals are quick to attribute the hallmark symptoms of PH to more common conditions, in line with the advice often given to doctors: “When you hear hoofbeats, think horses, not zebras.”
Unfortunately, PH is one of many zebras in the rare disease community. It’s a vicious one and is frequently neglected for longer than necessary.
My diagnosis was pretty straightforward. My pediatrician referred us elsewhere, a heart murmur was identified, and within weeks we were traveling to New York to see a specialist. But many in this community aren’t as fortunate, which is why PH education is so crucial. Timely and accurate diagnosis contributes to long-term survival, especially given the progressive nature of the illness.
When I was in nursing school, we had to give a presentation on an illness of our choice. Knowing I had an opportunity to educate minds that would be entering the medical field, I chose PH.
Following my presentation, some of my friends were confused. “You don’t have that type of PH though, right?” they asked.
The illness I’d presented to the class was severe and terminal. This didn’t match up with the person they knew me to be. Sure, I had to use elevators and my lips were sometimes blue. But overall, I didn’t look like I could possibly be so sick.
In this way, PH can operate as an invisible illness. Despite our poor condition, the body can learn to compensate over time, allowing us to present as relatively healthy. This sets PH apart from other severe illnesses, often confounding the world at large.
In my final years battling PH, new rarities about the illness were revealed.
First, I found that PH is unique in the type of transplant it requires. PH affects the vessels in the lungs, but it also causes heart failure over time. As a result, many patients who pursue this process require both a heart and a lung transplant — a rare procedure.
Getting listed for transplant can also be complicated, as PH is unique in the way it progresses. Often, especially in pediatric cases, the body finds ways to compensate for the decline in heart and lung function. As a result, the clinical numbers don’t always represent the true severity of a person’s illness, so determining when a transplant is needed can be muddy.
Additionally, patients in need of a heart-lung transplant are listed by whichever organ is “sicker.” When looking at the numbers, my heart won this battle. However, these numbers didn’t show the many areas where PH had caused damage in my body, and they failed to put me in a position where I’d ever receive an organ offer. Consequently, my doctors had to advocate for exceptions in my listing.
There was no doubt that I needed a transplant. Any destabilizing event would’ve resulted in catastrophic and irreversible consequences for me. Still, the process of getting me there was arduous. After I was evaluated for transplant, it took five years for me to be called.
Rare Disease Day
Early in my diagnosis, my mom heard a statistic about how many people with PH died prior to transplant. She doesn’t remember the exact number, but it was high — close to 80% or 90%. This haunted her and highlighted how few long-term treatments were available to us.
One reason it’s so difficult to live with a rare disease is because there are limited data. With so few people walking the path before you, both patients and providers can struggle to build a tested and foolproof plan.
For this reason, celebrating voices in the PH community on Rare Disease Day on Feb. 28 is such a worthwhile effort. It’s always an honor to have my story of survival through both PH and transplant join the small but mighty chorus.
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, and are intended to spark discussion about issues pertaining to pulmonary hypertension.