Am I Too Chill About My Rare Disease?
Last updated: July 2023
Recently, I had lunch with my fellow RDs (Rare Diseasers). These are some of my friends who also live with hemophilia. Since we live more than 60 miles apart, we descend on a central location, which means we all go a little out of our way to make it happen.
I'm thankful we do these get-togethers. Living with a rare disease is interesting because, in effect, you are rare as a result. Finding others who can understand, on a personal level, what life is like with a rare disease is important.
I appreciate my rare disease friends
We are able to share tales about our most legendary, inopportunely-timed bleeds. Or current concerns. Or current events! It's not all bloody talk, but wherever the conversations go, it is always a bloody good time.
I'm glad I have friends that I can laugh with about our bleeding disorder's repeated attempts to humble us. No one is minimizing the impact the disease has had on their lives because, well, it's just part of our lives. None of us have anything else to compare it with.
An interesting difference between me and my friend
I always learn something from these lunches – whether it's about advances in treatment or the inexplicably egregious danger presented by the omnipresence of hard-plastic sealed packaging. But recently, I said something that got an unexpected reaction.
"Oh, really? Wow..."
I had casually mentioned that my clotting percentage was 4 at my last appointment. Since my friend is more severe than I am, with less natural clotting percentage, he treats every other day. This keeps his clotting levels higher than mine, providing enough clotting factor to avoid problems at work or home with his 2 small children.
I don't blame him for playing it safe. Me? I've always treated a la carte. If a bump or a bleed occurs, I treat it before it can get worse and then I'm pretty much back to whatever I was doing in most cases.
My treatment past shaped my present
My treatment past shaped my treat-as-needed approach. I've dealt with so many other medical conditions due to the tainted blood products used in the 1980s: hepatitis B at age 6, HIV at age 11, then hepatitis C at age 18 (which occurred in 1994, years after products had been deemed safe).
As a result of my leery eye towards the pharmaceutical industry, I nearly waited too long before taking HIV medications, which literally saved my life.
The inhibitor factor
After I opened up about my medical conditions and started meeting others who were in the same bleeding disorder boat, I learned about inhibitors.
The Centers for Disease Control (CDC) says that roughly 1 in 5 people with hemophilia A will develop an inhibitor. It's basically developing resistance to a medication. The body reacts to the clotting assistance as a foreign agent, then develops misguided defenses to ward off the positive effects.1
Having an inhibitor makes treating bleeds way more difficult because it can severely impact treatment options. I have an impressive medical resume, but, as of now, the toolbox remains shy of an inhibitor. The fewer times I treat myself, the less likely it will be that I develop an inhibitor.
Is it time to change my approach to living with a rare disease?
Still, I have to ask myself: am I playing it a little too fast and loose with hemophilia these days?
Not too long after my friend expressed his concerns, I was heading out to pick up some takeout for me and my loving partner, Gwenn, who, after that lunch with my friends, reminded me that my clotting percentage was actually 3 percent at my last appointment.
As I was about to turn into the restaurant's parking lot, I noticed a car in my rear-view mirror. It was speeding towards me. I really thought I was going to get rear-ended, and I braced for impact. Thankfully, the idiot going twice the speed limit zigged around me at the last possible millisecond, barely missing 2 other cars in the process.
A minor car accident could be a major one for me. I'd be remiss if I didn't mention that even an airbag would cause some damage on its own. Even if I have my clotting factor in the car, I'm still in danger. I could be too hurt to treat myself in a timely manner...
So, is it time for a change in how I approach living with my rare disease?
Finding balance between my past approach and present reality
I'd be remiss if I didn't throw one of my more optimistic takes in here. I feel like there will be a cure for hemophilia in my lifetime. Ultimately, I just want to make the best decisions that increase the likelihood that I'll be around to enjoy that perk. Maybe my RD lunch buddies and I can start a seniors rugby squad?
The future aside, ultimately, I want to find the balance between the undeniable influence of my past with the reality of the present. My good health today is, in large part, thanks to advances in medication. Where hemophilia is concerned, the truth is that medications are getting better at preventing the development of inhibitors. There are no guarantees, but I'll always welcome anything that is getting better.
I am proud of how far I have come
I pat myself on the back, gently, over the strides I've made in the last 10 years with my bleeding disorder. I've learned how to infuse myself. I recognize and treat bleeds before they get out of hand when once I'd just wait and see. I keep regular appointments with my hematologist, who, at my last appointment, opened the door to discussions about a change in my treatment strategy.
Admittedly, I'm not quite there yet...but I'm seriously considering the prophy approach.
Whatever decision I make, I'm just so thankful for my RD friends. I encourage anyone out there living with a rare disease to make connections with others who understand what living with a rare disease is like.
How often do you run out of spoons?