I was diagnosed with late-onset Pompe disease at the age of 12 years old. By the time I turned 18, I was wheelchair-bound. I lived with my dad, who raised me. My dad was a Marine and he definitely treated me like a soldier more often than a daughter. That meant waking up at 4 in the morning to get ready to catch a 6 o’clock bus, coming home to my studies then chores. I had routine responsibilities and I couldn’t show any weakness.
Of course, this was all before my diagnosis. My point is I was raised on responsibility, discipline, and building strength. In my dad’s eyes, I was the strongest person he knew, despite me struggling with a muscle disease.
So during my teenage years, my dad allowed me to date. He gave me so much freedom and that surprised me. Of course, he did things behind my back, like threaten my boyfriends and do background checks on them—the nature of a protector, I guess.
But my dad trusted me in making choices because he felt I was mature. With the mindset that I had, the confusion and rejection that came with the way others saw me felt very foreign. It started when I was 18 and went to doctor appointments.
I believe that’s when I started getting the “are you sexually active?” question from doctors. When I would reply no, they would say “good” and a few of them would say, “well when you become active we will discuss your contraception options.” I didn’t think anything of it at the time. I just figured my doctor wants me to be safe and responsible. But when I was around 21 years old, that’s when I actually started relationships and that was around the time I was told by a doctor that I can’t get pregnant because it would be a high-risk pregnancy.
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That part I understood, of course, I was aware of the risks of getting pregnant, what I didn’t understand was the surprised look of doctors when I tell them I had an able-bodied boyfriend.
I started dating at 16, so I thought it was normal for a girl to have a boyfriend and want kids and to get married and start a family, but I learned very fast that society doesn’t see that for us rare disease patients. And it definitely becomes a reality when medical physicians are also very against it.
Now that I’m older, I’m starting to feel like this kind of mindset is actually a terrible mindset. It’s definitely our doctor’s job to inform us of the risk and all the bad possible outcomes. They have to do that. Just like someone having surgery, they have to be told about the possible risks. But is it necessary to instill in people with rare diseases that it’s a complete death sentence if we have kids? Because the interesting thing about this is that I’ve seen it done. I’ve seen so many people with rare diseases and disabilities who have kids that they’ve birthed. With our technology and medicine today, the possibilities are endless. It should no longer be “you can’t,” it should be “you can, but the risks are…”
I understand the history. I understand that decades ago it was a death sentence. Not only giving birth was dangerous but the pregnancy alone was dangerous. And many women can’t have kids, not just women with rare diseases, but healthy women as well.
It’s a complex situation, of course, but I feel like it’s so direct and inflexible with us. And there’s this misconception that people with rare diseases are gonna birth kids with rare diseases. That’s likely, but not highly likely. Going back to the technology that we have today, genetic testing can detect a lot. I think we should be allowed to make our own choices even after knowing the complications. And the conversation could use more hope than pessimism; we’re still human.
While many of us don’t plan on having children, some of us do. I myself want it all—the husband, kids, and career, and I am very aware of all the challenges. So when I go to my doctor and tell him I want to have a baby, don’t discourage me. We would love a little support.