Instead of Powerball, I have won the rare bleeding disorder lottery. I have von Willebrand disease and hemophilia B, a less common form of hemophilia that arises when a blood-clotting protein called factor IX is missing or deficient. My diagnoses are rare within a rare community. I often feel like a science experiment.

Living with a rare disease is isolating. Many in the bleeding disorder community lack proper intervention, support, and treatment. Coming together on Rare Disease Day, on Feb. 28, is a way to improve awareness for our community.

After all, we are fortunate — of the approximately 7,000 known rare diseases, about 95% have no treatment.

And more of women with hemophilia, too

I would love to see more clinical trials and studies to include people with mild hemophilia. Studies on mild hemophilia, hemophilia in women, or people with multiple bleeding disorders seem to be infrequent or nonexistent.

“If you were to compare the amount of research on the male hemophilia population with that on women with hemophilia, there is a dramatic difference. Absolutely, they are underrepresented in the current scientific literature,” hematologist Katharine Batt, former medical director of Wake Forest School of Medicine’s Hemostasis and Thrombosis Center, told the health news site Healio.

“Part of the reason comprehensive data on women with hemophilia is limited is because clinical trials generally enroll only patients with severe hemophilia, a population that consists largely of men. Patients with moderate and mild hemophilia are often excluded,” she added.

Women often use the same clotting factor medication as men for treatment. Yet very few, if any, clinical trials have studied these medications in women. Do hormones make a difference? Body fat composition? Studies on the effectiveness and side effects of clotting factors in women with hemophilia should be essential to determining an optimal treatment plan.

Administered by injection instead of IV, the medication Hemlibra (emicizumab) has been a game changer for people living with severe hemophilia A. A clinical trial to determine Hemlibra’s safety and efficacy in those with mild hemophilia A is underway, but the study excludes women.

Current initiatives

A handful of studies are currently gathering data to help researchers and providers working in the bleeding disorder community. I would encourage those living with a bleeding disorder to take part whenever feasible.

One noteworthy initiative is the “International Registry on the Symptomatic Hemophilia A/B Carriers: The Pink Color of Hemophilia.” This worldwide registry aims to evaluate the incidence of hemophilia in women, including symptomatic carriers, their quality of life, and clinical outcomes. The registry is free and open for participants.

Community Counts is a public health monitoring program funded by the U.S. Centers for Disease Control and Prevention’s Division of Blood Disorders. The purpose of this project is to gather and share information about common health issues, medical complications, and causes of death that affect people with bleeding disorders cared for in U.S. hemophilia treatment centers.

Increasing awareness

Awareness of bleeding disorders is increasing, but we have a long way to go. For example, a review of published studies indicates that an estimated 5-24% of women with heavy menstrual bleeding could possibly have a bleeding disorder. Identifying these women starts with the gynecologic community. Many suffer for years before their diagnosis.

According to the CDC, the number of females treated at hemophilia treatment centers has almost doubled over the last decade, from 8,516 in 2012 to 15,440 in 2020. More women being diagnosed and treated — that’s a win.

Maybe I will go and buy that Powerball ticket after all.