I was diagnosed with hemophilia A at 4 days old. My parents had no idea what it was, but they discovered that my mom was a carrier. They brought me to the Boston Hemophilia Center. It helped them to learn about hemophilia together with other families going through the same thing.
Early childhood with hemophilia A
As a kid, hemophilia really didn’t get in my way because of regular intravenous infusion of factor 8 clotting factor. I knew I had a disease that required clotting factor to prevent bleeding. My parents handled most of it; they took me to my appointments at the Boston Hemophilia Center and performed my daily factor infusions due to a hemophilia complication called an inhibitor. I later got a port-a-cath (central line) to make it easier to successfully infuse my frequently needed clotting factor. Daily or every other day infusions were very difficult on my veins. With a central line, I didn’t need to learn how to self-infuse early on.
I remember my great uncle, the only other family member we knew of who had hemophilia. When I’d visit him in the hospital, he was always in a wheelchair, watching “Meerkat Manor.” His hands and feet were bent and his body was crippled due to years of difficult to control hemophilia. It was scary and sad, and I just remember feeling so helpless. The last time I saw him, he gave me a baseball cap with a flying pig on it.
My great uncle died when I was only 7 years old. He didn’t have access to the treatments and the community that I do today.
Challenges with self-infusing
My port got infected when I was 13 years old and everything changed. To avoid additional infections, my best option was to remove the port and continue to receive daily clotting factor injections of a factor called Alphanate. Just a few months later, I started on a different factor, Eloctate, which required injections only every other day.
Because I didn’t have a lot of self-infusing experience, this transition was really hard. Every day, I’d come home from school and would have to go right to worrying about self-infusing. Some afternoons, I’d try three or four times, and I just couldn’t get it. I’d take a break, call my grandmother, take a warm shower, go back and try again. I’d end up calling a home nurse a couple of times a week to come out and infuse me.
I had good veins, but things just weren’t working. I was often bruised, sore and in pain. I bled two or three times a week. I missed 30 days of my sophomore year because of two major bleeds — one in my hip and one in my back — both which required hospital stays.
Those were probably the most difficult years of my life.
A clinical trial and a new life
When I was 16, my parents got a call from my doctor, Dr. Croteau, that there was a clinical trial for a new type of medicine for hemophilia A prophylaxis called emicizumab (Hemlibra), a medicine that’s injected once a week under the skin (subcutaneous) instead of in the vein. After years of frustration, I was finally on a good self-infusing streak, and I really didn’t want to try Hemlibra, but my parents insisted. I remember sitting on their bed that night, just crying and crying. I was scared and upset at the idea of trying something new.
But when I went in to meet Dr. Croteau, she really broke it down. She had this big packet with tons of data and took the time to explain everything to me. She told me stories and helped me understand why Hemlibra was worth trying. She gave me the assurance that everything would be OK.
I started the new drug at age 16. The team showed me the ropes of how to inject in this new way. My mom, my grandmother and the nurse were all there the first few times, but then I just figured it out and made it my own. It felt so good not to have to rely on anyone else. The trial was such a success that the medicine came to market sooner than anyone thought.
Focused on the future
I’ve had such good results with Hemlibra; it’s definitely the latest thing out there and the best medicine for me. I haven’t had a bleed all year, in fact, it’s been so long that I can’t even remember the last bleed. I don’t see myself ever changing treatments … unless of course gene therapy becomes available, because I know they’re working on that!
I’m now a senior in high school and will be going to college for mechanical engineering. Because of my absences over the years, I’ve had to work really hard to keep up in my honors courses and stay at the top of my class. People don’t always understand my disease, but I learned to advocate for myself at school. I can’t wait to graduate and see what else is out there in the world.