As promising therapies offer hope, women's care is often frustrating

Note: This column shares a woman’s self-described experience administering herself factor despite a doctor’s advice. Consult your doctor before starting or stopping any therapy.

For the first time, I attended the Coalition for Hemophilia B’s annual symposium, held late last month in Dallas. It was an enriching experience where I enjoyed reconnecting with old friends and forging new connections. The event offered a blend of educational and social opportunities, bringing together people of all ages to share knowledge and foster camaraderie.

I was particularly moved when viewing the documentary “On the Shoulders of Giants” in one of the symposium halls. This film told the inspiring story of Wayne Cook‘s journey with hemophilia and his advocacy, born from the “tainted blood” era.

Cook, who serves as president of the coalition, was present, surrounded by several of his “blood brothers.” One of them recounted how he was the sole survivor from his childhood hemophilia camp. Another had to take over his local hemophilia chapter at age 17 because no one was still alive to handle the job. Their emotional reflections on their challenging and harrowing past were a testament to resilience and lifelong friendship.

Meanwhile, in an adjacent room, children gathered to watch “Toy Story,” making for a poignant contrast with the adults’ activity. The juxtaposition of generations was a powerful reminder of the ongoing need for advocacy to secure a brighter future.

Advancements in therapies

Gene therapy, such as the recently approved Beqvez (fidanacogene elaparvovec-dzkt), emerged as a focal point in the symposium’s literature and presentations, spotlighting remarkable strides in treatment options. The concept of gene therapy itself is awe-inspiring; the idea that we can address hemophilia at its genetic roots feels revolutionary.

Additionally, hemostatic rebalancing therapies hold promise. Unlike traditional treatments that focus on boosting deficient factor levels, these therapies work by addressing natural coagulation inhibitors, such as protein C or protein S. Getting them by injection rather than an IV means freedom from self-infusion. Targeting these inhibitors enhances blood clotting in a different way, offering new hope for managing hemophilia.

Women still face challenges

Conversations with fellow attendees, however, shed light on the persistent and unacceptable challenges faced by women with hemophilia.

One woman shared her frustration with her hematologist, who she says refuses to check her factor levels despite her bleeding problems and her son’s hemophilia diagnosis. Instead of advocating for herself, which must feel like a fight, she infuses herself with her son’s factor medication to treat her injuries.

Another woman with a family history of hemophilia B, who, like me, has Ehlers-Danlos syndrome (EDS), shared her current struggles. Despite having normal factor levels, she showed me photos of her swollen knee. Multiple vials of blood were drained from it to relieve the swelling and pressure. Her orthopedic surgeon, aware of her son’s hemophilia B, suggested she obtain clotting factor to aid in her healing. My conversation with her reminded me of my experiences with knee bleeds and the resulting frustration.

I’m beyond grateful for the opportunity to have participated in this year’s symposium. Kudos to all involved for a job well done!