Real Stories from People Living with Hemophilia
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Hemophilia is caused by a mutation or change in one of the genes located on the X chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Learn more about hemophilia and how it’s passed in families.
Shellye’s Story
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.
By: Shellye
CDC would like to thank Shellye for sharing her story.
Alden’s Story
“I look at hemophilia and see that it’s a part of me. I’m not going to work my way around it. I’m going to work with it. I’m not going to let it define me,” says Alden Dunlap, 23. Alden has severe hemophilia and has lived with inhibitors for most of his life.
Alden knows the challenges of living with an inhibitor.
He doesn’t remember his exact age when he developed an inhibitor, but he knows it was at an early age. When Alden was younger, his inhibitor levels were so low that they were undetectable. He was treated with prophylaxis during this time and was able to play baseball. He occasionally had bleeding episodes, but he was able to manage and treat his bleeds. In middle school, his inhibitor levels spiked, and although Alden was having the same number of bleeds as before, his bleeds lasted longer and became harder to treat.
Since middle school, his inhibitor levels have been increasing. The higher the inhibitor level, the harder it becomes to treat the bleeds.
As an adult, Alden has faced challenges related to his condition. Inhibitors make his bleeds harder to treat, which make it challenging to work on the days he gets a bleed. “One day I’ll be at work and everything will be fine. The next day I won’t be able to come to work. It’s very stressful to stay busy and show an employer that you’re dedicated because physically it’s really hard.” Sometimes his bleeds will take days to treat, and he’ll have to miss work or else the bleeding can result in more damage to his joints. “Not all employers like to work with you when it comes to missing days, but in my case, luckily all the ones I’ve worked with have worked with me to an extent,” says Alden.
Despite these challenges, Alden remains positive. He thanks his family and his support communities for helping him weather times of difficulty and disappointment. When Alden’s parents learned he had severe hemophilia at 10 months of age, his parents have been advocates for his physical and emotional health. His parents decided not to raise him in a bubble because of his condition. Instead, they made it a priority to learn about hemophilia and to be active in the hemophilia community in their home state of Tennessee. They helped Alden find support groups by enrolling him every year into a camp for children with bleeding disorders, and as a family, they attended annual meetings hosted by the Tennessee Hemophilia Foundation.
For Alden, camp was a positive, life changing experience growing up, and it continues to be a source of support and encouragement. “Going to camp every year was always helpful. I met older guys at camp, and it opened my eyes. They showed me that once I learned my limits I could do anything I set my heart to. If I set my limits, I’ll know when to step back or how much to go,” says Alden.
As Alden got older, his parents gave him more responsibility to decide if he wanted to attend hemophilia conferences and meetings. “Around 15 or 16 years old, my parents started asking whether I wanted to go to the meetings instead of just taking me. They gave me that option. It really made me interested in trying to find something and wanting to attend,” says Alden. Since then, Alden has been actively involved in the hemophilia community in Tennessee. He hasn’t missed a year of camp since he began attending at eight years of age. He continues to attend various meetings hosted by the Tennessee Hemophilia Foundation, and he participates in the Foundation’s golf tournaments.
Today, Alden continues to thrive with support from his parents, his wife, and the friends he’s met through camps and meetings. He wants to encourage others with inhibitors to know they can live the lives they want to live. “Anything is possible. When I was younger and I first realized I had an inhibitor, I never thought I would be where I am today. Really get in with the community because there are support systems for siblings, parents, people with bleeding disorders – everything. The help that you get from that is tremendous. Be active in the community. It’s a blast. You’ll meet so many new people, and it expands the group of people you can connect with and be of support.”
Learn more about hemophilia.
CDC would like to thank Alden for sharing his story.
Jane’s Story
“Leland has hemophilia. At 15 months old, Leland developed a complication called an inhibitor. This means that his body, his immune system, fights off the medicine – the infused factor VIII. That, quite honestly, pulled the rug out from underneath us, when the preferred methods of treatment were no longer options for us. The alternative clotting factors that we use to control bleeding are much less effective. His treatment more closely resembles that which was done a generation ago; he doesn’t benefit from a lot of the advances in treatment that help his peers who don’t have an inhibitor.
“The complications of long-term damage to his joints, the unrelenting pain, just general quality of life, that’s been by far the biggest challenge. Another big challenge for us as a family and, for my husband in particular, is the high cost of hemophilia in general and treating an inhibitor in particular. My husband has had to make career choices based on maintaining good health insurance.
“Having a son with hemophilia and then, the added challenge of an inhibitor, is not always easy. As a parent, I would love to fix things and make everything better. The inhibitor has taken away a lot of the control that parents have in effectively managing hemophilia. We don’t really have a proactive management of the bleeding; we have to wait until bleeds happen, and then deal with them from there. I’ve watched him sit out and miss a lot of important life experiences, including most of high school. It’s not what I envisioned when he was a baby and first diagnosed.
“Fortunately, there have been many other positive life experiences that have come from having hemophilia. He’s been in Washington advocating to his legislators, he’s a regular guest speaker at Harvard Medical School, and he’s traveled around the country for community events. How many teenagers get to do that? Hopefully these experiences help maintain some balance, for both Leland and our family as a whole.”
CDC would like to thank Jane and her family for sharing this personal story.
Sonji’s Story
"Every time a bleed happens, I hold my breath to see if Thomas's body is going to respond to treatment - and I never know if it's going to take one treatment or a week of multiple infusions daily to stop a bleed."
According to Sonji, bleeding management of a patient with an inhibitor is a real challenge. Currently there are only two products to choose from to control bleeding, and only one product approved for prophylaxis (preventative treatment). “Every time a bleed happens, I hold my breath to see if Thomas’s body is going to respond to treatment – and I never know if it’s going to take one treatment or a week of multiple infusions daily to stop a bleed. It’s scary. I worry that my child might literally lose life or limb and I only have a limited range of medical interventions to help him.”Few people know the challenges of living with hemophilia and an inhibitor better than Sonji Wilkes and her family of five from Englewood, Colorado. On August 7th, 2003, Sonji and her husband Nathan welcomed their son Thomas into the world. Thomas, who has severe Hemophilia A, developed an inhibitor when he was 8 months old, soon after beginning treatment for his hemophilia. He suffered his first joint bleed at age 2 and was temporarily confined to a wheelchair following a bleed into his ankle joint in October 2006 that took over two months to resolve.
Venous access (finding a vein in which to infuse the factor) is another huge challenge confronting the Wilkes family because Thomas receives infusions of factor daily. When Thomas bleeds and needs multiple infusions per day, the need for access is even more critical. A venous access device—a long, thin tube called a catheter, which is inserted into a vein—allows a physician to deliver medicine directly into the bloodstream without repeatedly puncturing the blood vessels.
According to Sonji, Thomas’s veins are hard to stick on a regular basis and he has so far had multiple PICC lines (a peripherally inserted central catheter line, which is inserted into a vein in the arm and goes up the vein all the way to a large blood vessel in the chest), as well as five ports (devices that are surgically placed under the skin of the chest and connected directly into a large vein in the upper chest for infusions).
“It is uncertain if he will require another port, or even if his body will hold up to another insertion, not to mention the bleeding and infection risks involved with the surgical placement. It is terrifying to have the very medication that can save his life in your hands, but not know if you’ll be able to administer it because of access issues.”
Other challenges of living with an inhibitor that Thomas and his family have faced include management of short- and long-term pain from repeat joint bleeds, dependence on and side effects from pain medications, inability to participate fully in sports and activities due to physical limitations, many school absences, and concerns over the costs of medications.
“There’s worry over the affordability of the drugs available to him. There’s worry over access to his medical team and if my insurance will allow me to utilize their expertise. There’s worry over his mental and emotional condition. There’s enough worry to fill an ocean.”
Despite all of these challenges, the Wilkes family maintains a positive spirit and a focus on the gratifying aspects from their struggles with hemophilia and an inhibitor.
CDC would like to thank Sonji and her family for sharing this personal story.
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