Milybet Montijo-Cepeda is a special needs teacher, a wife, and a mother of a young son, Omar. Omar has severe hemophilia A – and Milybet has mild hemophilia A. Omar’s diagnosis was confirmed at birth, Milybet was not so lucky – she was 39 years old before receiving her diagnosis. The contrast seems staggering but it is all too common. Like most mothers of affected children, Milybet spent all of her energy on understanding and managing her son’s condition. The thought that she may be more than just a carrier never entered her mind. “My father had severe hemophilia A and my mother always told me that only boys had hemophilia,” remembers Milybet.
In retrospect, she now recognizes signs of an undiagnosed bleeding disorder throughout her young adulthood that she simply ignored. “I was always anemic, always refused when I tried to donate blood, I had heavy periods, and I even had a hospitalization after oral surgery.”
But like most women, Milybet never thought she had a treatable problem. Hemophilia is traditionally associated as a disorder that affects young males. We often hear about the heartbreaking anecdotes describing why boys cannot play with their friends or enjoy sports with other children. However, Milybet’s story is not unusual. A surprising number of women have bleeding disorders that often go unrecognized and undiagnosed.
Kristin Prior remembers the birth of her son as the pivotal event for her in receiving her diagnosis of von Willebrand Disease (VWD), a hereditary bleeding disorder. “Not only did my son’s entrance into this world bring me happiness, his very existence may have saved my life.” She remembers suffering with excess bleeding throughout her life. “As a child, I would bruise easily and have frequent nosebleeds. During my teenage years, my menstrual cycles were always long and the bleeding was heavy. I fractured my kneecap in college and suffered joint bleeds afterwards. My doctor removed the blood from around my knee but was unable to diagnose the cause of the problem.”
Their stories highlight a growing need to address this gap in early diagnosis for women.
The traditional thinking was that men could have symptoms of hemophilia and that women who "carry" the hemophilia gene do not experience symptoms themselves. Today, we know that many carriers do experience symptoms of hemophilia. And we are starting to develop a better understanding of why and how women can be affected.
“Some women live with their symptoms for years without being diagnosed or even suspecting they have a bleeding disorder. Through education and awareness-raising, the World Federation of Hemophilia is working to close this gap in care,” said Alain Baumann, CEO, World Federation of Hemophilia.
The challenge for these symptomatic carriers is getting a proper diagnosis early.
“There are approximately 18,000 boys diagnosed with hemophilia in the U.S. today, “says Jerry Powell, Medical Director of Coagulation, U.S. Commercial Operations at CSL Behring, a global biotherapeutics company driven by its promise to help people with serious medical conditions lead full lives. “For every boy living with hemophilia, there is a Mom, sister or aunt who is potentially at risk for the disease. It’s critical that we help raise awareness and educate these families on the importance of receiving an accurate diagnosis.”
Milybet couldn’t agree more, “it’s important for women who experience the signs of bleeding to have resilience and realize that they are not alone.”