Familial PAH Diagnosis Prompts Need to Give Back

‘I really feel like I’m meant to spread awareness and help others.’

Kayla Naecker, 26, lives in Benld, Illinois, with her daughter Thea, fiancé Ethan, and their two dogs, Rocco and Scooby-Doo. They live in the country and have chickens and ducks. Kayla works as a receptionist at a doctor’s office.

By Kayla Naecker

I was diagnosed with pulmonary arterial hypertension (PAH) in June 2020 after a left and right heart catheterization. I had no idea what pulmonary hypertension (PH) was, although I had heard about it from my biological uncle a few months earlier.

When I was 9 months old, I was adopted by my dad. I lived in the same area as my biological family, but I didn’t reach out to them until my teenage years. I’ve met my biological dad and uncle. They told me that my biological grandmother passed away from PH at 27 years old, and they thought her PH had developed from taking fen-phen diet pills.

But it’s more likely that she carried a gene for PH.

Before I was diagnosed, I had shortness of breath, palpitations, fainting and fatigue. But I didn’t think I had PH because of my age. Despite the pandemic, I got an appointment for an echocardiogram and heart catheterization right after my team decided to do extra testing. If I hadn’t been fainting so frequently, I think it would have taken longer.

I stayed two weeks at Barnes-Jewish Hospital in St. Louis, Missouri, after my diagnosis. I was given a COVID test during admission to the hospital, and I had to wear a mask when other people were in my room. The hardest thing about being diagnosed with PAH during the pandemic was only having one visitor per day and being away from my then 2-year-old daughter. That took an emotional toll.

During that time, I had a blood test to look for genetic PAH markers. My PH specialist and I decided it would be best to test for PH genes because of my grandma. My results confirmed that my PAH was genetic.

I had my daughter tested by a mouth swab, and she has the same PAH gene that I do. I wanted to know if she had the gene, in case she also got sick. I’m really hoping she doesn’t develop PH, but I know what to look for if she does.

My treatment started with a double lumen Hickman line in my chest for Veletri. Now I have a single lumen Hickman line because of a blood infection from my old line. I’m on Remodulin, and I take 40 milligrams of Tadalafil. I’m still working, but I get tired easily.

My support system consists of my 3-year-old daughter, fiancé, two dogs, best friends and family. I often asked, “Why me?” after I was diagnosed, but now I really feel like I’m meant to spread awareness and help others. My whole family has been very supportive since my diagnosis.

My dad said maybe I got sick so I could advocate. I hope I can do that one day.

My sister and best friends started a fundraiser, #TeamKayla. I plan to do annual fundraisers to raise money for PAH. It’s important to me now that my daughter could develop PAH as well.

I hoped to start fundraising this year by having a music trivia night, but because of the pandemic, I’m shooting for 2022. I also plan to sell t-shirts around my PH anniversary. I hope fundraising will help find better ways for patients to get medications and maybe one day help find a cure.

Kayla shares her story in connection with American Family Month, which is observed between Mother’s Day in May and Father’s Day in June. If you have a genetic form of PH, or want to share how PH has affected your family, submit your story to the PHA’s Right Heart Blog.

View the recording of our PHA Live presentation about Understanding Hereditary PAH and Genetic Testing, presented my molecular geneticist Wendy Chung, M.D., Ph.D., of the National Institutes of Health.