For women and girls with bleeding disorders, life is often a struggle to be seen and heard by medical professionals. Often their conditions remain undiagnosed, or misdiagnosed, for years. In the meantime, many suffer from painful joint pain, debilitating menstrual cycles, miscarriages, and other complications from pregnancy and childbirth. Even after a diagnosis is made, without the proper resources, a woman can continue to face difficulties with access to care and getting medical providers to understand her condition. But as these women’s stories prove, it doesn’t have to be this way.
Don’t Change What You Do, Change How You Do It
Age at diagnosis: 10 months
Current age: 20
Avery Amende, a junior and triple major at Montana State University, doesn’t remember a life without managing her bleeding disorder. At 9 months old, she developed a hematoma on her cheek while playing. It wouldn’t go away. Doctors in her hometown of Bozeman, Montana, realized it wasn’t normal bruising. One month later, she was diagnosed with von Willebrand disease (VWD) type 3, a rare subtype of VWD.
With type 3, Avery’s body doesn’t store any von Willebrand factor. Although continuous birth control pills are often enough for women with type 1 VWD to regulate menstrual bleeding, they aren’t for Avery. During high school, treating with birth control pills alone stopped being effective. She now has an IUD and is also taking birth control pills. “I’ve had to try a lot of different combinations to get my bleeding under control,” she says. “The goal is to not have a regular period. Once it starts, it’s hard to stop.”
Starting the pill at 13 affected how she related to her peers. “I remember feeling really afraid for my reputation. I didn’t want people to think I was doing ‘things’ when I just had to be taking it for bleeding control,” she says.
Despite her diagnosis, Avery says it hasn’t stopped her from living life to the fullest. “Living in Montana has warped my experience. My family has always been involved in the outdoors. I’ve always skied and hiked and climbed and played lacrosse. I’ve always been really active,” she says.
Best advice: “Don’t let your bleeding disorder stop you from doing anything, even if that means changing the way you do something. And always have a hematologist who has your back.”
Like Daughter, Like Mother
Age at diagnosis: 24
Current age: 43
Looking back on her life, Jessica Amende now realizes that she first had symptoms of a bleeding disorder in childhood. First came the heavy nosebleeds throughout middle school, so bad that her mother had her tested for leukemia. That test came back normal. Then her menstrual bleeding went out of control, too.
“My mom also had heavy periods, so we thought it was normal,” says Jessica, who grew up in small, rural towns in South Dakota and Wyoming, where access to healthcare was limited. Fortunately, birth control pills helped regulate her cycle. It wasn’t until her daughter, Avery, was diagnosed as an infant with type 3 VWD that Jessica and her husband found out that they also had VWD type 1. (Their son Wyatt was diagnosed with VWD type 3 after he was born.)
The Amendes began encouraging family members to get tested. Jessica’s mother-in-law also has type 1. Jessica’s parents and siblings tested negative for VWD, but she suspects her mother and one sister have it. “Both my mom and that sister have symptoms,” Jessica says. “But the only time they were tested, they were both on hormone replacement, and so they fell within the normal range.”
After she gave birth to her third child, Jessica had an electroablation to cauterize her uterus. “The hope was to get off of hormones permanently,” she says. That procedure didn’t seem to resolve her bleeding, so she was put on hormones again. In 2019, she had a hysterectomy after bleeding uterine growths caused severe pain.
Both she and Avery attend their chapter’s yearly women’s retreat. “That really allows us to stay connected with other women with bleeding disorders,” she says.
Jessica says she always learns something new, even some 20 years on. “Last year, one of the speakers talked about how microbleeds can be happening and you don’t even realize (it).
Maybe you think you’re spotting during intercourse, but it’s really a symptom of your bleeding disorder,” she says.
Best advice: “Be comfortable with your body. If something is happening that’s unusual, that is concerning, you can advocate for yourself. Reach out to other people in the bleeding disorders community. You’ll realize you’re not in it alone.”
Think Long Term
Age at diagnosis: 16
Current age: 44
Elaine Lai, a longtime volunteer at NHF’s Hemophilia Foundation of Northern California, knows the importance of developing connections with others in the bleeding disorders community. Lai faced cultural resistance from her family members who are of Asian descent. Costly insurance issues regarding testing were also a big barrier. “They knew I was a carrier early on, but the insurance company wouldn’t test for an additional diagnosis,” she says.
Even though her two younger brothers were diagnosed with hemophilia, it took a disastrous wisdom tooth extraction to get Lai diagnosed with factor VIII deficiency at age 16. “I was bleeding so much that I was starting to choke on the blood. My face and skin hurt so bad, it couldn’t stretch anymore. I had two black eyes and couldn’t talk for six to eight weeks,” Lai says.
Lai says that only in the past 10 years has she seen a shift to recognizing women’s bleeding disorders and taking them more seriously. “They assume we’re just carriers, but it’s important to emphasize there’s more to it than that,” she says.
A native of San Francisco, Lai says the HIV/AIDS epidemic of the 1980s only exacerbated her concerns and feelings of loneliness. “Watching friends get sick and die, or hearing so-and-so didn’t make it. And I had lost friends,” she says. “In my culture, we didn’t talk about it…that was considered taboo.”
As a woman, Lai says the decision to have children was one of her biggest challenges and concerns. Because Lai didn’t want to pass on her bleeding disorder, she opted for in vitro fertilization with preimplantation genetic diagnosis (IVF with PGD). “I didn’t want them to have to deal with what I went through or what my brothers went through,” she says. “It’s such a hard decision and a huge financial burden, and we sacrificed so much for that.”
Best advice: “If getting pregnant is a goal, it’s achievable. It has to be a balance between what you want and what your (treatment) care team says will work for you.”
Don’t Accept Less Than You Deserve
Age at diagnosis: 5
Current age: 49
Living with a bleeding disorder often inspires people to pursue medical professions. That was the case for Skye Peltier, who has factor VII deficiency. She works as a physician assistant at University of Minnesota/Fairview and at Children’s Hospitals and Clinics of Minnesota.
Peltier says some of her biggest challenges stem simply from the time period in which she has lived. “I lived through the HIV and the hepatitis C era, when there was a lack of attention to anything outside of hemophilia,” says Peltier, who contracted hepatitis C as a result of her bleeding disorder treatment.
Growing up, Peltier didn’t know a lot of other girls with bleeding disorders. No one else in her family has been diagnosed. Because factor VII is rare, she was often lumped in with the hemophilia community, attending bleeding disorders camps with boys. “At 12, that wasn’t so bad. I thought that was kind of cool,” she says.
Peltier says she is finally seeing more emphasis placed on women with bleeding disorders. But she says it wasn’t easy getting here.
“One of the biggest challenges for me growing up was my period and my reproductive health. And I do think that has improved dramatically,” she says. Even before her menses began, doctors warned her it would be difficult. “It was scary. They were preparing me for something that they didn’t know how to handle,” she says. She often needed to be hospitalized. “As a teenager, that was horrible to explain to people,” she says. At 18, a hematologist advised her to consider a hysterectomy.
“It was someone I felt should’ve known better. I had to do a ton of advocating for myself at a young age on a very difficult topic,” she says.
At 30, she made the decision not to have children and had an endometrial ablation to stop her bleeding. “By the time I got to 30, I said I can’t do this anymore. I was anemic. I was constantly bleeding. It was having an effect on my personal relationships,” she says.
Fast-forward and Peltier applauds the work of the combined pediatric hematology and gynecology clinic now available at her hemophilia treatment center. “It’s amazing. That would’ve changed my life dramatically, just to have those two specialties working together,” she says.
As an HTC physician assistant, Peltier believes women often don’t bring up menstrual issues or reproductive health, focusing instead on minor procedures, such as tooth extraction. “When I ask about their periods, what’s going on, do you feel you have the resources you need, it becomes clear that they do feel lost but are almost so lost that they don’t know to ask for help. Or they’re still living with the idea that this is just the way it is and there isn’t anything to be done about it,” she says. “I feel like a lot of women are suffering in silence because no one is asking or checking in.”
Best advice: “There are apps to monitor your menstrual cycle. There’s no excuse to let it fly under the radar.”
The Best Healthcare Is Self-Care
Pawleys Island, South Carolina
Age at diagnosis: 36
Current age: 49
A car accident gave Connie Montgomery a renewed lease on life. Working as an occupational therapist at the time, Montgomery had been driving to see a patient in Charleston, South Carolina, when she was in a car crash and had to be rushed to the emergency room. In the ER, Montgomery had profuse internal bleeding. Fortunately, the ER doctor had some experience with bleeding disorders and recognized something wasn’t right. A slew of lab tests later, Montgomery was diagnosed with not only factor VII deficiency but also type 2 diabetes and a rare autoimmune disease. “It was a lesson and a blessing,” Montgomery says. “I’m used to taking care of others, but I learned I have a lot of medical needs myself.”
Like many women with bleeding disorders, Montgomery experienced heavy and lengthy menstrual cycles from her first period onward. As an African American woman, she says ingrained cultural norms also nearly kept her from advocating for herself.
“Culturally, it was stressed in my home that you didn’t go out and put your business out there. My mother raised us to just deal with it. As I got older and learned better, I knew I needed to tell someone,” she says.
Yet despite telling three different ob/gyns about her heavy periods and pain, Montgomery experienced the frustration many women face when advocating for healthcare. “It can’t be that bad,” the doctors told her. After her last child was born, Montgomery had heavy postpartum bleeding for a month and a half. She heard the same refrain. “I was just exhausted…Even after telling them how often I was changing sanitary napkins, it didn’t help,” she says.
After her diagnosis, Montgomery says she finally realized that’s not how it’s supposed to be. She vowed to be the change, tackling the issues as both a patient and a provider. As a member of NHF’s Cultural Diversity Taskforce, she has been a regular speaker at NHF chapter events and women’s retreats. In 2011, Montgomery received an NHF grant to develop the Patchwork Quilt Program, an interactive workshop that allows members of the bleeding disorders community to embrace their differences while using commonalities to create a better life.
In April, Montgomery began teaching a webinar for the Medical University of South Carolina in Charleston titled “Hear with Your Eyes and See with Your Heart: Compassionate Healthcare.” She developed the course, meant for doctors, nurses and social workers, with her daughter, Connor J. Graham, a hemophilia carrier and PhD student studying digestive disorders at MUSC. “I feel my healthcare outcomes would have been different if they had listened to me all along,” she says.
Best advice: “First, do not be afraid to reach out for help with your diagnosis. Second, know that your diagnosis does not define your possibilities. And third—and women have trouble with this one—know your boundaries and know that it’s OK to say no. Don’t get tapped out taking care of everyone else that you forget to take care of yourself.”
Not All Symptoms Are Alike
Lone Star Chapter of NHF
Age at diagnosis: 30
Current age: 37
Even after both of her sons were born with hemophilia in 2005 and 2007, Rachel Neyland was still being told that women don’t have hemophilia. She was finally diagnosed with mild hemophilia in 2013.
Neyland got tested and diagnosed after hearing a doctor talk about new studies on women who were carriers. “He said 98% of carriers had some sort of bleeding disorder. But I still wasn’t convinced, because I don’t bleed like my boys,” she says. After talking to several women, she realized she actually may have been experiencing symptoms.
“My periods have always been awful for 20 to 30 days. My knees have hurt since I was 10. I’ve had back and hip issues since my boys were born. And my shoulder would hurt for months at a time…After talking to these women with similar situations, I thought, ‘Hmm, maybe I should get tested,’” she says. Her hemophilia treatment center was shocked that she hadn’t been tested yet.
Like many women before they are diagnosed, Neyland had a uterine ablation to stop her heavy menstrual cycle. After the procedure in 2010, she bled for three more months. “I didn’t heal properly. I didn’t know I needed factor,” she says. “When I found out I had hemophilia, it made sense.” In 2013, after her hemophilia diagnosis, she had a partial hysterectomy and needed factor to control the bleeding and recover.
In 2017 and 2018, she ended up back in the ER with painful uterine cysts. The first time, her abdomen filled with a half-liter of blood. She finally had a complete hysterectomy.
After attending the Hemophilia Foundation of Michigan’s annual women’s retreat in November 2019, Neyland learned the importance of keeping track of any pain and bleeds through a daily journal. “There was a new hematologist at my HTC, and when she read my journal, she said, ‘You bleed a lot. You need to be on prophy.’ I was just shocked she suggested it,” Neyland says.
Neyland has been on prophylactic factor since January, and it has made a big difference. “I used to get shooting, stabbing pain in my shoulder that would last for eight or nine months. I was diagnosed with tendinitis, bursitis,” she says. “To this day, my left arm is still weaker because of not being able to move it much.”
Recently, Neyland walked into a door jamb and was in pain instantly. “I took factor, and the pain immediately went away,” she says. “I’m like, are you serious? I suffered for years and years, and all I needed was factor.”
Neyland’s mom hasn’t been tested, but her mom thinks she has hemophilia, too. Both women attended a chapter event in 2019. “Just listening to the women speak, she thought, ‘Hmm, maybe I do need to be tested.’ It’s just a matter of navigating the proper insurance channels,” Neyland says.
Best advice: “Keep a pain and bleeding journal. It really makes a difference. Have a doctor who believes you have hemophilia and listens to you. If you have a child, they need to be tested.”
Women with von Willebrand disease (VWD) and their caregivers will soon have a new and important resource they can turn to when the first clinical guidelines on the diagnosis and management of VWD are published in late 2020.
The evidence-based guidelines, which were developed in cooperation with patient representatives, will:
- Facilitate clinical decision-making on the diagnosis and management of VWD to contribute to better health outcomes, quality of life and health equity
- Increase access to appropriate diagnostic testing and therapeutic options
- Identify research priorities
- Guide healthcare providers, patients, payers and other stakeholders on priority focus areas in VWD
The guidelines were developed through a collaboration between the National Hemophilia Foundation, the American Society of Hematology, the International Society on Thrombosis and Haemostasis, and the World Federation of Hemophilia.