You probably have questions.
Stuff like, “Why are there two patches of tape on your
arm?” or “Why is there an IV dangling there?”
Maybe “Why are you standing instead of sitting in that
comfy-looking recliner?”
The most important question might be, “Where are you?”
I’ll answer that last question first. You see, I’m in an
infusion clinic. Admittedly that’s not a normal place for most people to hang
out. For me though, it’s becoming quite common. I’ve actually been here (often
in the exact same room) 26 times over the past year of my life. If you do the
math, you’ll realize that means I’m visiting this clinic every 14 days. During
those visits, I’ll spend 4 to 5 hours receiving a medication called
Nexviazyme.
At this point, you’re likely wondering what exactly Nexviazyme
treats. After all, that one generally isn’t mentioned on all of those TV ads
that lists a ridiculous litany of side-effects. The answer to that question is
that Nexviazyme treats one thing and one thing only: Pompe Disease. I’ll
forgive you if you’ve never heard of it. Before a year and a half ago, I hadn’t
either.
Simply put, having Pompe means that my body doesn’t produce
enough of the enzyme required to break down Glycogen in my muscles effectively.
Left unchecked, that excess Glycogen eventually begins to choke out and kill
the muscles that it resides in. The biweekly Nexviazyme infusions pumps a
version of that enzyme into my body to break down the excess Glycogen that my body
can’t keep up with.
At this point, I’m sure you have lots of questions. One of
them might be something like “How did you catch this?” or “How did
you learn you have this?” To answer those, I’ll have to start at the
beginning.
You see, Pompe is actually a genetic disorder meaning that I
did nothing to catch it. Instead, I was born with it. Both of my parents
carried a dormant gene on their chromosomes and passed it along to me. Since I
had that gene on both my X and Y chromosomes, it became active resulting in me
having Pompe. Throughout most of my life, I’ve had no issues associated with
the disease though. I didn’t even realize it existed. Neither did my parents.
Two years ago though, I went in for my yearly physical and
mentioned to my doctor that I had been having a lot of instability in my hip.
In fact, at that point in time, I couldn’t even run without falling. Not ideal
for someone with young kids. My doctor saw fit to recommend physical therapy
which I attended multiple times a week for three months. In early December of
2024, my therapist admitted that even though I was doing all the work, he wasn’t
seeing the improvement he expected to see out of me. With that, he recommended that
I see a neurologist.
The less said about the first neurologist I visited that
month, the better. I’ll fast forward to February of 2025 when I got a second
opinion. In that visit, the neurologist debunked the initial diagnosis and
ordered genetic testing where I would spit into a tube and mail it back. When
that was processed, my sample was flagged for containing Pompe. After that, my
neurologist requested both of my parents to be tested which confirmed my diagnosis
in late summer of 2025. On October 7th of that same year, I received
my first infusion and officially began treatment.
I’m guessing you have more questions. Maybe something like, “How
many treatments do you have to have before you’re in remission?”
It doesn’t actually work that way. I will be receiving these
treatments every two weeks for the rest of my life. It’s not all bad though. I’m
fairly lucky in the fact that I caught this early. Since I was physically
active and was noticing the decline, it couldn’t hide. Many people don’t
actually realize that anything’s wrong until they’ve already developed issues
with their hearts and/or lungs.
As for me, my heart and lungs are just fine. I’m now an
established patient with both a cardiologist and a pulmonologist with regular
check-ups. I see my neurologist twice a year for examinations. Outside of that
though, I’m doing great. I’ve regained the ability to run short distances and
have successfully rebuilt the muscle weakness I was having. I don’t think that
I’m going to be in any body-building competitions anytime soon but that’s
probably ok.
I don’t want to sugarcoat things and say that life hasn’t
been hard over the past couple of years though. First of all, I absolutely hate
needles and I spend a lot of my time getting stuck with needles now. Luckily
the nurse practitioners at the infusion clinic are really gentle and even cover
the IV with tape per my request so that I don’t have to look at it.
Going further, I’ve honestly spent a lot of the last couple
of years angry at God. None of this was what I expected to have happen at 40.
It just didn’t seem fair. I never stopped believing in Him; I just was angry at
Him. I feel like that’s an important distinction that needs to be made. There
are definitely good days and bad days though.
Physically, I feel great at the beginning of an infusion
cycle. Once I reach the end of my 14 days though, I generally feel pretty rundown
and can’t wait for that next infusion. At one point over the last year, Nexviazyme
temporarily ceased production causing me to miss one treatment. Between
withdrawal symptoms, exhaustion, and general discomfort, that was a rough 28
days.
The hardest part has probably been the mental and emotional drain that this takes on both me and my family at times. I never expected to talk about medical insurance and the issues with the industry as much as we do but it’s sadly a fairly common discussion in our household. The never-ending stream of medical-related appointments on our calendar doesn’t help either. I think I’ve actually seen Bethany cry more in the last two years than in all of our time together. We’ve tried to shield Ellie and Ethan from some of this but they’re aware. The two of them have even attended multiple infusions with me. The staff always makes it fun for them when they know they’re coming though. The Office Manager will always make sure she has their favorite snacks stocked and the nurses will always teach them about everything that’s happening. In fact, they’re already planning on showing the kids how the arm ultrasound machine works next time they visit.
Ok, since this post is already over 1100 words, I should
probably be wrapping things up. This is the important part though. I don’t want
to be seen as a victim or someone that people need to feel sorry for. That’s
part of why I kept this part of my life hidden for so long. I felt ashamed.
Like I had done something wrong. I know that Pompe isn’t something I can help
though. It’s just a part of who I am apparently. It’s not the defining part
though.
Ok, I really am stopping now.
#DaddyWrite
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| I spend a lot of time walking laps up and down this hallway during infusions. The kids like to join in. |
