A carrier of the hemophilia gene is a female who has a genetic mutation on one of her X chromosomes. About 1/3 of carriers experience bleeding problems and are often referred to as symptomatic carriers. By definition, if a woman has clotting factor levels less than 50%, she has mild hemophilia.
Ashley and Sarah are sisters from Michigan who were diagnosed at a young age as carriers of the hemophilia gene. Even though Ashley and Sarah have a close relationship, they have a different story when it comes to how hemophilia has affected their lives.
Sarah: I was diagnosed at around 6 months.
Ashley : My understanding is that my factor levels were checked at birth. My mom is a carrier as well as my older sister, so it was natural for them to check me. My legs were always terribly bruised as a child, so I often had to explain to my friends and teachers why I was black and blue.
Q. What was your fear growing up with a bleeding disorder?
Sarah: I did and still do fear passing it on to a child.
Ashley: I didn’t have any fears in terms of my carrier status. I was an active teenager and a competitive cheerleader. I knew someday I could have a child with hemophilia, but I never understood the gravity of that and all that goes along with that.
Q. What are your factor levels?
Sarah: They range from 18-29% with a preventative Intrauterine Device (IUD). I am not sure what they are without hormone birth control.
Ashley: It’s awful to say, but I don’t know at the moment. Now that I am ready to start my own family, it’s time for me to start monitoring them much more closely.
Q. Do you have bleeding symptoms?
Ashley: I don’t have many serious symptoms other than a heavy period, bruising easily, and the occasional nosebleed. My sister has much lower factor levels than I do, and she experiences consistent mild joint bleeds. Isn’t it astounding how different it can be within one family?
Q. What was it like growing up with an aunt who has severe hemophilia?
Sarah: I have always known that we had hemophilia in our family. I knew that she struggled with her mobility, but it didn’t directly impact my life in a major way until the AIDS crisis.
Ashley: It was my reality and part of what made me ‘me.’ I loved to explain it to other kids. I think I gained my tenacity from having to explain to my teachers that some women DO have hemophilia. I began attending camp at age nine, made some incredible friends, and always associated the disorder with fun and love. However, as I grew older, I saw firsthand the depth of pain my aunt dealt with. It was then that I realized the severity of the condition.
Q. Do you think having an aunt has helped you to accept your own diagnoses?
Sarah: Absolutely, she has helped and encouraged my involvement in the community.
Ashley: My aunt’s disorder has helped me understand hemophilia. I have always known I was a carrier so there was no need for “acceptance.”
Q. By definition, if a woman has fact or levels less than 50%, she has mild hemophilia. Do people believe you when you say you have hemophilia?
Sarah: No, I am always having to educate them on why I say I have hemophilia.
Ashley: I don’t think people truly understand, even though I try to explain it as easily as possible. When it comes to dealing with medical personnel, I think they are beginning to understand.
Q. What has been the biggest challenge of being a woman with a bleeding disorder?
Sarah: My biggest challenge has been learning to advocate for myself and other women.
Ashley: My physical issues are not severe, so the hardest part is the emotional impact. My husband and I are considering a family, and the thought of having a child with hemophilia can be frightening.
Sarah: This question is always so tricky! More days than not I would say no. There are rare days I would say yes. I wouldn’t be who I am or have the friendships I do without it, so today my answer is no!
Ashley: This is a difficult question that I struggle with for many reasons. Without it, I wouldn’t have the weight of the fear for my future children. But I also wouldn’t have had many life experiences, like at Camp Bold Eagle and Eagle Outpost (in Michigan). The people that I met at those camps and the experiences we had together shaped me into who I am today. Who would I be without hemophilia? I don’t know the answer to that.
Q. What is one wish for all women with bleeding disorders?
Sarah: My wish for all women with bleeding disorders is that we are seen and heard in the community with equal concern. I wish that we learn to be advocates for ourselves and take leadership roles in the community.
Ashley: I am blessed to be surrounded by strong, educated women like my aunt and sister who are deeply involved in the hemophilia community. Many women around the world live their life without a diagnosis and treatment options. My wish is that every woman with a bleeding disorder is: diagnosed, educated, and treated by a knowledgeable team. What a difference that would make in so many lives