When Sarah Watson was a toddler just learning how to walk, she stood up in her crib and accidentally bit her tongue. When her parents came to check on her, they were in for a shock: Both child and crib were a bloody mess. Because hemophilia runs in her family, Watson was tested and diagnosed as a symptomatic carrier of hemophilia A. Later, she was diagnosed with mild hemophilia, which can cause serious—and often unexpected—bleeds among both male and female patients.
“People with mild hemophilia are often surprised because they can go for such a long time and not have any problems, and then all of a sudden they have a bleed,” says Sue Geraghty, RN, who served for 25 years as nurse coordinator at the University of Colorado Denver Hemophilia and Thrombosis Center until her retirement in 2013. “Because they are not dealing with bleeds or infusions on a regular basis, sometimes it is hard for them to wrap their minds around the fact that they have a chronic illness.”
While the bleeds may be infrequent, there’s a concern that people with mild hemophilia may take their symptoms less seriously when they do have a bleed. Injuries or bleeds must be treated promptly, or they can lead to dangerous complications.
What is mild hemophilia?
Historically hemophilia has been thought of as a “man’s disease,” but some women who carry the hemophilia gene, like Watson, have low enough levels of factors VIII or IX (FVIII or FIX) that they also have hemophilia. These women often experience similar symptoms and complications as men with hemophilia.
Many people with mild hemophilia are not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. Jeff Reichert, of Cincinnati, learned he had mild hemophilia when he was 14 and playing football. “When I was hit in the thighs, I had bleeds into my quadriceps,” he says. “We knew there was some hemophilia in my family, but I started learning how to live with it when I was 14.”
Challenges of mild hemophilia
Mild hemophilia is not typically associated with the type of frequent bleeds and chronic pain often seen in severe hemophilia, but men and women with mild hemophilia face their own set of challenges. And those challenges do include bleeding and pain, as well as developing inhibitors and difficulty getting care.
As a child, Watson regularly had severe bloody noses and missed a lot of school. As she grew older, she struggled with joint pain. Recently, the 35-year-old from Detroit had complications while giving birth to her daughter.
Watson has not developed inhibitors—antibodies that neutralize infused factor—however, some 5% to 8% of people with mild or moderate hemophilia A do develop inhibitors, which creates additional complications to managing the condition.
Another challenge for people with mild hemophilia is the struggle to obtain proper insurance coverage. Reichert has always maintained health coverage through his employer, but he felt relieved when the Affordable Care Act removed lifetime caps and stopped insurers from denying coverage for pre-existing conditions. Although his bleeds are infrequent, he keeps treatment product on hand—and because it’s considered a specialty drug and is regularly reclassified, he says he never knows how much he’ll have to pay for it when he needs a refill.
Preparation
Because mild hemophilia is unpredictable, it’s important to remain vigilant about monitoring and treating the condition. “One bleed can set someone up for issues later in life,” Geraghty says. “I think the biggest challenge is that they forget they have hemophilia, so when they have an injury, they think ‘injury,’ not ‘bleed’!”
Even if bleeds occur very rarely, a person with mild hemophilia should take time to find providers they trust and determine the best plan for managing complications when they arise.
For Reichert, being prepared means keeping his treatment product—Stimate® nasal spray—close by at all times, along with a first-aid kit. He also wears a Road ID bracelet printed with his health information so first responders can treat him effectively in case of an emergency. Every time he travels or participates in an activity, Reichert keeps the address of the closest hemophilia treatment center (HTC) in his backpack or first-aid kit, and he instructs his companions on how to give him Stimate, or to get him to the HTC if he becomes unconscious. “It’s so important to educate the people in your life,” he says. “I take all these precautions because I have to be my own safety net.”
Such diligence has allowed Reichert to be active. Today, at 51, he plays Ultimate Frisbee, competes in triathlons, climbs mountains, cycles, fly-fishes, works out with a trainer and has backpacked in 19 national parks. “The key is knowing your limitations and being prepared for when an injury occurs,” he says.
To confidently tackle whatever may come next with mild hemophilia, “the key thing to know is the location of your closest treatment center,” Geraghty says. Always know which hospital in your area carries factor in its pharmacy, especially if you do not keep a treatment product in your home, to ensure that you can obtain prompt treatment, Geraghty says. “You should collaborate with your HTC to develop a treatment plan that you can implement if you have a problem. And remember your HTC is only a phone call away. So if you think you may have a bleed starting or are feeling some unusual pain, call the HTC and run it by them. Prompt treatment is important for all people with hemophilia.”