Whitney Whited was 10 when her father died of pulmonary arterial hypertension (PAH) complications. Recently, she learned about the BMPR2 gene and sought genetic testing for her 11-year-old daughter, EllieRay. Whitney, 34, who doesn’t have PAH, shared her family’s story in the December issue of Pathlight, the Pulmonary Hypertension Association’s member magazine. Join or renew your membership to receive Pathlight and other member benefits.
By Whitney Whited
My family has a long history of aggressive genetic PAH. My father, Roger Whited, passed away in 1999, three years after his diagnosis. One of my father’s first symptoms was frequent bloody noses. I’m not certain of the medication he was on, but I remember he wore a box-like machine that stored ice packs where he inserted his medication. A rather large tube ran from the box directly to his chest into his heart. He had to take the tube everywhere with him.
Since I was so young, I have only my memories of my family’s experience with PAH, rather than paperwork and names. I know that this all starts with my grandparents, and we believe the earliest PAH diagnosis in our family was in 1969.
Nancy had two children, Jody and Jill Davis. Jill was diagnosed with PAH at 39 and passed away three years later. Jill’s son, Timothy, passed at 32 years old after a PAH diagnosis later in his life. Jody’s son Raymond was the youngest person in our family who was diagnosed with PAH. He passed away at age 12.
Because of my family’s previous history, I had my daughter get an echocardiogram. We found out that she has a large fibroma tumor in her left ventricle. I was completely taken aback. My main worry was that the doctors would find PAH, too.
As of now, EllieRay is stable with no known PAH. We are awaiting gene mutation results related to the tumor. The only problem is that we have no records of my family’s history.
In the months waiting for tests to rule out EllieRay’s PAH, I started gathering more information about PAH and my family’s history. When I found out about the BMPR2 gene’s connection to PAH, I asked for her to be tested. I’ve been researching this disease and pushing for awareness ever since.
Empowered by hope
At first, I wasn’t hopeful when I learned of my family’s PAH history. But through research, I’ve found others online who live with PAH and even those who received lung and heart transplants. Knowing there are others living with PAH gives me hope.
Though my father never had the opportunity to have a transplant, I’m hopeful others in my family will be able to if they receive a PAH diagnosis.
I haven’t met any family members who survived their PAH, but none of them made it to a transplant either. I would love to discuss and compare family stories and progress so we can help our babies and our babies’ babies.