Real Stories from People Living with Hemophilia – Shellye
Women have hemophilia, too.
Hemophilia A is in five generations of my family—we traced it from my great grandfather down to my nephew. Hemophilia is not scary to us, as it is something that was around as we grew up. My dad had severe hemophilia A, and I remember helping him infuse (inject medicine into a vein) even as a young child. I would hand him his supplies and was always curious and interested in what he needed to do to take care of himself.
Growing up, we understood that men had hemophilia and women were “carriers.” Women passed along the X-linked gene, but did not actually get hemophilia because (it was believed) that the “good X chromosome” compensated for the X chromosome that carried hemophilia. When women in our family struggled with bleeding issues, hemophilia was not even on the radar as a possible contributor or cause.
When I was in school, I hated physical education classes, and I mean HATED them. When I ran, it hurt—a lot. My ankles and knees would swell—not a lot, but enough to see that my joints were not happy. I was in constant pain, but I was labelled as “lazy” and not wanting to participate, as opposed to my true desire to be very active and athletic, without pain. I was seen by an orthopedic specialist (a healthcare provider who specializes in the management of the bones and joints), who told my parents to purchase orthotics (devices to correct foot and ankle problems without surgery, such as shoe inserts) for my pronating ankles (inward rolling of the feet and flattening the arches of the feet). This helped my posture and gait (the way a person walks) a bit, but ultimately, did not take away the pain from high-impact exercise. Hemophilia and micro bleeds (small amounts of internal bleeding that can occur without symptoms) were not ever considered as a cause of the pain and swelling because I was female.
When I got my period as a high school student, I found that it greatly impacted my life. I bled—a lot. I would often bleed through clothing, which was really embarrassing. Every time I stood up, I held my breath and hoped that the flooding that occurred would not soak through the pad I was using. Women did not talk about menstrual bleeding with each other, and only much later in life did I learn that I would lose as much blood in the first few days of my period as most women did in 5 to 8 days. By the end of my period, I would lose 3 to 4 times the “normal” amount… I just didn’t know. That amount of menstrual bleeding was my normal, and others complained about their periods, so I thought I was bleeding the same.
In my 30s, my factor VIII level (a clotting factor protein that helps to stop bleeding) was tested, and I was told I may be a “symptomatic carrier” for hemophilia—a new term for women who are carriers for hemophilia and have bleeding issues of their own. I learned that the X chromosome without the genetic mutation does not always compensate for the X chromosome with the genetic mutation that causes hemophilia. Lyonization (a normal process during development where each cell shuts down or inactivates genes on one of the two X chromosomes) is random and does not guarantee that the X chromosome without the hemophilia mutation is the one that will remain active. Therefore, women who carry hemophilia can have no bleeding problems or be at the extreme other end, with severe hemophilia.
No treatment plan was made. I had two minor surgeries in which I received DDAVP (a medicine that works to temporarily release one’s own stored factor VIII protein that helps the blood clot), but I did not receive infusions with replacement factor VIII. I had issues because the DDAVP did not work for me and my body was not able to form scabs at the incision sites (cuts made by the surgeon). The incision sites were just big, leaky blobs that tried to clot but never hardened. I took a long time to heal.
Several years later, I connected with a hematologist (a healthcare provider who specializes in blood disorders), who told me I should always get infused factor VIII when having surgery. He encouraged me to have factor VIII on hand at home for emergencies. I was grateful for this advice, as I once had a mole removed that did not stop bleeding. I bled through a whole roll of paper towels and realized I needed to use that emergency factor VIII. That night and the following morning, I infused for the first time. The bleeding stopped, and I actually formed a scab to heal! This wound healed faster than all previous ones because I had the factor VIII medicine.
In my early 40s, I injured my ankle. It was a very small avulsion fracture (an injury in which the tendon or ligament pulls off the bone) and sprain but with no external bleeding. It took 9 months for my injuries to heal. Again, no one considered using factor VIII when I was injured. Yet one X-ray revealed I was developing arthritis as the result of untreated ankle bleeds from my youth.
Later on in my 40s, I connected with a growing movement of women and healthcare providers who started asking questions about how to diagnose and treat women who carry the hemophilia gene and have bleeding issues. I connected with a Hemophilia Treatment Center whose staff understand that women bleed too and need treatment. Thankfully, I connected with them before I needed a major surgery. I had surgery with infused factor VIII, but unfortunately, started hemorrhaging (bleeding) 3 weeks after surgery when the stitches dissolved. I ended up needing factor VIII replacement for over a month. It was then that I finally, at age 45, received the official diagnosis of “mild hemophilia.” The shift in language from the label of “carrier” to “symptomatic carrier” and then to “mild hemophilia” changed the way healthcare professionals viewed me and the treatment plans that were developed.
I now treat on-demand (treatment at the time of a bleeding episode to make it stop) with infused factor VIII. When I have joint injuries or other types of bleeds, they now are properly identified and I receive proper care. This allows me to heal in days, instead of weeks or months. Sometimes, just like the men, I even treat prophylactically (treatment to prevent a bleeding episode from occurring) when I am participating in an activity that could cause a potential bleed. This keeps me safe, happy, and healthy.
Access to proper treatment and factor VIII infusions has greatly improved my quality of life. I feel so fortunate to finally have the correct diagnosis and treatment plan, and I hope that other women out there will also get the assistance they need.
Women bleed, too—it is critical for women who carry the hemophilia gene to receive laboratory testing for hemophilia and get proper treatment for themselves. It is also important for us to make sure that outdated labels are not preventing access to treatment.
CDC would like to thank Shellye for sharing her story.
If you would like to share your personal story, please contact us at Contact CDC-INFO