Fighting for proper care as a woman affected by bleeding disorders
For Ashley Zebley, a symptomatic carrier, getting treatment has been a battle
At 32, Ashley Zebley from Arkansas is no stranger to bleeding disorders. I recently interviewed her over the phone.
Ashley explained that her father has severe hemophilia B, and both her maternal grandmother and great-grandmother exhibited bleeding problems, although neither was diagnosed with hemophilia. Ashley herself is a carrier of hemophilia and has exhibited bleeding symptoms throughout her life.
As a parent of three daughters, Ashley became concerned when one began displaying troubling symptoms, including excessive bleeding after dental extractions. “As a toddler, she had a giant lump on her head,” Ashley recalled. “It was big, purple, and didn’t go away for months.”
Despite these alarming signs, it wasn’t Ashley’s local hemophilia treatment center (HTC) that tested her daughters. Instead, it was a geneticist who understood the complexities of lyonization (also called X chromosome inactivation) and the possibility of hemophilia in women. “She was fabulous,” Ashley said, reflecting on the geneticist’s comprehensive approach.
When Ashley presented her daughter’s genetic test results to her HTC, further testing revealed her daughter had a factor IX level of 17 units/dl. (Normal levels range from 50 to 150 units/dl.) That led to a diagnosis of mild hemophilia, and her daughter was prescribed factor when needed.
Despite finally having answers for her daughter, Ashley expressed frustration, noting, “We didn’t get the level of education we deserved. Females receive lower-tier healthcare.”
The following are excerpts of our conversation.
JL: When did you first suspect you might have a bleeding disorder?
AZ: Around the age of 12, I started having periods and underwent knee surgery for joint issues. After what should have been a minor procedure, I experienced severe swelling and bruising. My parents took me to the ER [emergency room], and later a hematologist explained I was a carrier and I have a qualitative platelet disorder. My factor [IX] level was 52 or 53 [units/dl], and I was seen every other year. But these visits were more about preparing me for future pregnancies than addressing my bleeding problems. I always felt like they overlooked what was happening in the moment.
What were your periods like?
School was a nightmare. I constantly bled through my clothes and had to keep a jacket on hand to tie around my waist. I carried eight super-plus tampons in my purse and used one every 45 minutes. By my late 20s, I became anemic and started iron infusions, but it wasn’t easy.
Eventually, I had a hysterectomy to stop the bleeding. It was one of the hardest decisions I’ve ever made. I didn’t want a hysterectomy — I didn’t want to lose the option of having more children. But I couldn’t keep living like that.
What has your treatment experience been like?
Honestly, it’s been a roller coaster. I was offered factor several times, only to have it taken away. Once, I was even given a travel letter advising the use of factor in emergencies, but I wasn’t prescribed any.
Earlier this year, I was in a car accident. The ER doctor didn’t know how to handle my bleeding, and that was a turning point. I realized something needed to change, or I would end up dying someday from my bleeding.
What changed for you?
I’d heard about [hematologist] Danielle Nance for years, and I finally decided to see her. The experience was night-and-day different. She had reviewed my records, understood my qualitative factor disorder, and prescribed me factor. She listened, ran genetic tests, and took the time to help. It was life-changing.
What advice do you have for others?
Find a doctor who’s willing to dig deep. Don’t be afraid to switch providers. I’m a deep empath, and I was worried about insulting my previous doctors, thinking they knew better than me. But we know our bodies best, and it’s vital to have someone who listens and takes your concerns seriously.
Most importantly, don’t give up. I won’t lie. I had some dark thoughts. I was ready to quit, but then I reached out to Kim Phelan from the Coalition for Hemophilia B, and others. They didn’t let me give up. Let others support you and help you find a way through.
Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to hemophilia.
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Cynthia Welch
I was tested a lot when young. They would do a bleeding test with a white paper circle. I was around 2 and a half. We had to stop because we were very poor and boys were more important. I'm 65. I don't know if my mother had it. She had horrible periods. I always bruised easily but didn't always bleed if cut or injured. I fell through a ceiling while working and put a big hole in my arm. It never bled. The doctor that sewed me up was surprised. In 2000 I had sinus surgery. Mind you I had major surgeries prior including a total hysterectomy. Didn't have a problem. When I had my sinus surgery I was told I wouldn't stop bleeding. I was kept in the hospital. The hematologist came to my room screaming at me why I didn't tell them I had a bleeding disorder. I was stunned explaining I didn't know. He told me my hemophilia was close to the worst he'd ever seen. He checked under a electron microscope and only two cells stuck together. He checked again with the same result. I had to wear a medical bracelet that said platelet aggregation disorder. It's not Von Willabrandts. I have had surgeries since then and they just give platelets right before the surgery.. in 2015. I started having strange symptoms with my heart and lungs. I was diagnosed with CTEPH chronic thromboembolic pulmonary hypertension. My left pulmonary artery is totally blocked. A angioplasty was done on my right pulmonary artery to open it up. It's filled with blood clots and are covered by scar tissue I also have numerous remnants of clots in my lungs. I'm on oxygen 24/7 and a c-pap( for 30 years). We don't know where how or why this happened. I have numerous other rare disorders. I received IVIG monthly for a immunodeficiency disorder. I know I'm Gabby but know one has given me answers or expressed a interest I can't be tested because I'm on Warfarin. I have a do not resuscitate order and no intubation. I appreciate your story and realize I'm not alone. Women are not just carriers. Thanks for listening.