Our family reaches for milestones despite a PAH gene mutation
This is Kyleen Gonzales’ story:
Our late daughter Kaylyn Gonzales was diagnosed with pulmonary arterial hypertension (PAH) when she was 17. She had quit soccer, and then dance, and was complaining about chest pain and heaviness in her chest. Eventually, she was diagnosed — with PAH caused by the BMPR2 gene, which led to further testing of family members. This revealed my husband, Brian, and two sons also carry the mutation.
Hoping no one else would develop the disease, we focused on Kaylyn and trying to make whatever time we had count. Sadly, she lost her battle with PAH at 22, five short years after her diagnosis. We don’t focus on sadness or on how much her loss affected our lives. Rather, we focus on keeping her memory alive, and we feel blessed to have so many wonderful memories with our darling daughter.
My husband had a stroke two years after our daughter’s diagnosis. After they repaired the hole in his heart that caused the stroke, he was almost immediately diagnosed with PAH. That hole had acted as a pressure release valve hiding the disease.
Neither of our sons with the gene has any signs yet. But we hold our breath every year when they go in for tests. I regularly have to remind myself to breathe.
Bryan has a different lifestyle following the stroke and PAH diagnosis. We went from rock climbing, hiking, and canyoneering to more leisurely walks and camping. Even camping changed: We upgraded from a tent to a trailer, mainly for the oxygen. We still get outside for exercise, but now take ski trams and ride four-wheelers. Sometimes, when my husband feels extra ambitious, we try to get in a quick rappel — it certainly takes the sting out of what we can’t do.
It hasn’t been an easy transition. While my husband now is on full Uptravi doses, which have significantly improved his ability to do the things he wants to, he still struggles with frustration at his limitations. My job is to remind him what he still can do.
I found the best relief I could provide was regular massages, so I took a mini course to ensure my technique. I think it’s still the most helpful thing I do for him.
Our lives have changed dramatically, but we continue to grow stronger as a family, which is the most important thing in our lives. We’re now grandparents! My husband wasn’t sure he’d ever see this stage of life. We have one granddaughter and one grandson who are the loves of our lives! We simply can’t miss this stage.
In recognition of Pulmonary Hypertension Awareness Month in November, the PHCommunity Spotlight campaign features a series of stories highlighting the real-life experiences of people affected by PH, written in their own words. Follow us on Facebook and Instagram for more stories like this, using the hashtag #PHSpotlight, or read the full series.