Embracing Life: Rob’s Journey with familial pulmonary arterial hypertension

This article was originally published in “Papillon”, the magazine of the Dutch Pulmonary Hypertension Association’s, in the first edition of 2023, at pages 8-9. The author is Anita Harte. We extend our heartfelt thanks to Rob for having shared his journey with us.

Rob (39) has familial pulmonary arterial hypertension. He is a member of a family from Schijndel burdened with the hereditary variant, which is being researched by the Amsterdam UMC medical center.

Rob still remembers when he was a young boy going to the hospital with his mother. The doctor was friendly (“he had a big jar of candy on his desk”), the tests were unpleasant. Rob was only six when the diagnosis came. First for his mother, then for him. Familial pulmonary arterial hypertension. His mother was the first in her family. And because it was already known at that time that it could occur in families, the advice was to immediately examine Rob and his brother and sister as well. His parents already had a suspicion by then. Rob would stop more often while playing than other children.

Getting the most out of life

On one hand, as a child, it’s a diagnosis that happens to you, says Rob. He didn’t suffer much from his illness and could do everything except sports. It was different for his mother. When she received the diagnosis, she was allowed to go home immediately. The doctors gave her only five more months. Rob didn’t know how dangerous her situation was. “When we had appointments together with the cardiologist, I had to occasionally leave the conversation.” Those five months eventually turned into five more years. Rob was almost eleven when his mother passed away. That changed something in him. It made him mature a bit earlier, he says. “You realize that life is finite and that you also have that serious illness, which changes your own perspective of the future.” He struggled with that during his adolescence. But he quickly adopted an attitude of “getting the most out of life.” Sometimes to the point of being unwise. “I pushed my physical limits a lot. I didn’t take the rest that was needed because I wanted to do everything I could at all costs.” Even after his adolescence, he kept up the pace. Studying, working hard – he’s a lecturer in technical business administration at Avans University of Applied Sciences, in Breda, The Netherlands – and a strong drive to achieve something.

“On one hand, that’s beautiful”, he says. He’s done everything. And whether that has led to more or different problems? “You never know.” Maybe, he says, he’s also an exception within the already exceptional realm of having a rare disease. “Maybe that’s even an advantage. Because I was so young when I got it, my body adapted biologically very nicely.”

A little over a year ago, Rob had to decide to work less (from 32 hours to 16-20 hours). All his energy went into his work; there was nothing left for other things. “I still have that drive and desire to get everything out of life. But I’m increasingly confronted with the fact that I’m limited in that aspect and that it just doesn’t work, no matter how hard I fight for it.” That remains very difficult, he says. “You still compare yourself to peers.”

Desire to Have Children

Rob and his wife have had a desire to have children for years. However, fulfilling that desire isn’t straightforward for them. “I always thought that a child shouldn’t experience the same thing that happened to me,” he says. So, after a referral from his treating physician, they ended up with a clinical geneticist who told them about the possibility of pre-implantation genetic diagnosis (PGD). PGD is a standard IVF or ICSI treatment, where the embryo is tested for hereditary conditions before being implanted into the uterus.

This led to a long process that began at Maastricht UMC+ where PGD is used in collaboration with several other academic hospitals. Pulmonary Arterial Hypertension wasn’t yet on the list of conditions. That meant that Rob and his wife became a “case.” Selecting healthy embryos is an ethical issue, requiring approval from the Ministry of Health. Approval was granted after a year (Pulmonary Arterial Hypertension is now on “the list,” so other patients don’t need ministry approval anymore). Then there was a process where the main question was whether Rob and his wife fully understood what they were embarking upon and whether they had considered other options (adoption, sperm donation). Ultimately, three cycles followed, which unfortunately didn’t result in a pregnancy. A huge disappointment, says Rob. “It was a very tough process. Sometimes even a bit surreal, that so many people – whom you’ve never met – are working for you. There’s nothing romantic about that.”

Wisdom of Life

The question of whether he himself wouldn’t have wanted to exist is a question of life that Rob has always asked himself. He also has an answer. It’s very difficult to lose a parent at a young age, he says. And having the same hereditary condition is a heavy burden. Yet, he also calls his life rich. It has given him a certain wisdom of life. “I learned very early on to choose what I find enjoyable or important and with whom I want to be and do pleasant things. Instead of letting others dictate.” That thought has led Rob and his wife to decide to let nature take its course. Knowing that they’ve chosen carefully by trying PGD first. “We’ve done everything we can to minimize the chance of passing on Pulmonary Arterial Hypertension.” You never know, he says. “I might not pass it on. And besides, the treatment options have also improved significantly compared to when my mother was sick and I was young.”

For the future, Rob tries to let things happen as they come, he says. Even though it’s not always easy. “When I see my brother or friends doing things with their children that I can’t even do now, it does hurt already.” There’s also the concern about how long he can be there in a child’s life, he says. Yet, the feeling weighs heavier that he really wants it for himself and above all, for his wife. “So that she has someone to lean on if I’m no longer there.” And it’s what he said before, he adds. His life has brought him a lot. “Precisely because of what I’ve been through.”

No Failing Grade

When Rob compares himself to fellow patients, he realizes how rich his life still is. With his wife, his job, and his great hobby as a bass guitarist in a band. Last year, he even managed to go on a road trip with a friend on a motorcycle along the west coast of Canada and America. “You can’t give yourself a failing grade yet, even though there are days when it does feel like that.”

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