women with hemophilia

Hemophilia: A Woman’s Journey to Effective Treatment

by Milora Morley, MPH

©LA Kelley Communications, Inc. Reprinted with permission.

Publication: Pulse 9.19

I never thought at age 27 that I would begin a journey as a woman diagnosed with mild hemophilia A. My brother, as well as several men in my family, have all been diagnosed with severe hemophilia A. I’m no stranger to this disorder.

Milora Morley

            I grew up in the south Florida hemophilia community. As my brother’s keeper, and older sister, I had a lot of responsibility as a secondary caregiver. I knew about doctor appointments, factor brands, and clinical trials. But when the roles change, and you’re the one who may need caregiving…everything changes.

            I remember I encouraged my brother to be positive and live his best life. Hemophilia was not the end of the world! Now, here I am years later, feeling discouraged and defeated, as if hemophilia were indeed the end of the world.

            My personal journey has been difficult. Witnessing my brother’s experience made me hope that I’d also get the attention and treatment I need to move forward. But I was wrong. As much as health professionals may know about hemophilia, it seems that they know it only as it pertains to males. In my experience, the specialists aren’t always educated about this bleeding disorder, or maybe they truly don’t want to believe that a woman can have hemophilia.

A Surprise Diagnosis

In 2016 I lived in Atlanta, Georgia, and became my brother’s legal guardian; he had recently relocated from Miami, Florida, to complete his senior year of high school. During his transition, he lost Florida Medicaid and was also ineligible for Georgia Medicaid. He was left with no insurance.

            Later in the semester, he had a hip bleed. We rushed to the ER. Thankfully, the hospital social workers helped him receive emergency Medicaid, which covered his visit. While he was being treated, they suggested I have free genetic testing for parent or guardians, so I did.

            My brother wrapped up his final semester as a senior, and I moved to Los Angeles, California, in October 2017. In November my brother called, asking me to contact his nurse. When I called her, she explained that they had been trying to reach me for the last few months. I was in a bit of shock as she told me that I have a factor level of 38%—mild hemophilia A—and that I should register with a local hemophilia treatment center (HTC).

            I asked her what hemophilia looks like in women. I reflected on my past and current health issues, particularly my prolonged menstrual bleeding. At age 16, I began experiencing irregular menstrual bleeding due to abnormal hormone levels, but by age 22 my periods became more irregular and very prolonged. My menstrual cycle would stop for a day or two and start all over again; this went on for months. Doctors diagnosed me with pre-polycystic ovarian syndrome (PCOS), and started me on birth control right away.

            Before my hemophilia diagnosis, my ob/gyn refused to take me off birth control. We agreed that once I reached my weight goal, she would take me off so we could address the underlying issue of what was causing my PCOS or prolonged bleeding. I lost nearly 90 pounds to combat PCOS, and achieved my weight goal, only to have the doctor change her mind and tell me that I should just stay on birth control.

            I felt defeated. I eventually decided to stop birth control and explore my own options. By this time, I had already relocated to LA and had just received my hemophilia A diagnosis, but I was also having prolonged bleeding. I thought it best to start the journey with the mindset that maybe this bleeding was not just PCOS but also influenced by my new hemophilia diagnosis. So I connected with my PCP and decided to get back on birth control while I figured this all out.

            My PCP sent a referral for me to be seen by the local HTC in LA. However, my insurance denied it, as well as the appeal, due to “lack of medical necessity.” At this point, I didn’t have many options, so I figured I should see an in-network specialist.

“Women are just carriers”

On April 5, 2018, I had my first appointment with an oncologist who supposedly had experience treating patients with hemophilia. I told him about my strong family history and that I thought hemophilia could possibly be the real cause of the menstrual issues I’d been having, and not PCOS, as stated by past physicians.

            Although he had received a copy of the official diagnosis, the oncologist told me that it’s unlikely for women to have hemophilia, and that women are just carriers. He suggested I be tested by a lab that he trusted. He also suggested I have an ultrasound performed to look at my ovaries. I complied.

            A month later, I returned to this doctor, who said, “Your results came back, and you have mild hemophilia A.” This was now my second diagnosis. He told me that I needed to book another appointment in three to four weeks for him to give me a plan for treatment.

            Feeling a bit frustrated, I asked, “And what about my menstrual cycle?” The doctor acted confused, as if I’d never talked to him about my irregularities and PCOS. He told me nothing could be done about my irregular bleeding. I asked him, “Aren’t you alarmed that I have prolonged bleeding when off birth control, and isn’t that a symptom of hemophilia in women?”

            He then became defensive, and I became even more frustrated because two things became clear: First, the doctor hadn’t listened to me during my first visit, due to his assumptions about women with hemophilia; nor had he properly prepared for my visit. When diagnosing me, he spoke as if we had never discussed my family history of hemophilia, or any of the things I’d brought up.

            Second, the doctor had never had a female patient with hemophilia. When I asked if he would be open to consulting with Hemophilia Foundation of Southern California or the local HTC to determine a treatment plan for my menstrual cycle, he declined, stating that he could do his own research. I left the office in tears and didn’t feel comfortable returning to this doctor. I was still left looking for answers.

            In November 2018, I switched insurance plans through a new employer and tried the process again. This journey to finding the underlying issue is important for me. My new PCP, who was also a hematologist, admitted that he didn’t think he’d be the most suitable hematologist for me because he was out of practice in that specialty and not familiar with women with hemophilia. He asked me what I wanted to do, and I said I wanted to go to the local HTC. He agreed to send in a referral through our medical group.

            Again, my referral to be seen by the HTC was denied by insurance because they believed they had specialists more than capable of providing me the care I needed in-house. I obliged once again, and decided to see a specialist they referred me to in-network. But this time I was a bit more optimistic, because the specialist was a woman and this was one of the best health systems in greater LA. There was no reason I wouldn’t be able to find the care I needed…right?

            I was excited to meet this new specialist on January 7, 2019. She was an oncologist, but she also had experience with bleeding disorders. However, what this really meant was that she was experienced with treating women with von Willebrand disease (VWD). During my first visit, she suggested that my factor levels be tested once again. Although I had provided two prior diagnoses, I agreed. This time, my third diagnosis came back with much lower levels—23%. Most likely, this was due to no longer being on birth control.

Breakthrough

I really wanted to work with this specialist to figure out the best options for me. A friend of mine connected me with the Women’s Bleeding Disorder Coalition, which helped educate me about what hemophilia looks like in a woman.

            I thought it would be a good idea to connect my new specialist to the coalition. Surprisingly, she agreed, and I thought, wow, this is great! They provided my specialist with more information on hemophilia in women. I was happy and excited to hear that my specialist had taken that step on my behalf.

            But during a follow-up visit, I was taken aback when my new specialist (who I had been bragging about) made comments invalidating the information that was shared with her through the Women’s Bleeding Disorder Coalition, because they weren’t “medical professionals.” I was crushed.

            Sadly, I left that appointment with no treatment plan to address my menstrual bleeding, and the only medication offered to me was one most commonly used in women with VWD. Here we are, April 2019, and I still have irregular or prolonged menstrual bleeding. I’ve been fortunate to see an endocrinologist, who has been working very hard to determine my underlying issue. But at this point, he can’t pinpoint the actual cause. The reality is that he is not a hematologist, so he can’t help me access factor and attempt a trial treatment to determine whether my prolonged bleeding is in fact hemophilia.

            I have also been working with Hemophilia Foundation of Southern California to get access to the GHPP (Genetically Handicapped Persons Program) insurance, which would cover my visits to an HTC. I am currently awaiting a decision and crossing my fingers for a positive outcome. Now, at 28, I just want answers. I just want to know what’s the true culprit behind my prolonged menstrual bleeding, and what I can do to control it.

            I hope that one day, it won’t be so difficult to be connected to a doctor or specialist who really knows hemophilia in general and how to treat women with hemophilia. I also hope that soon, women will have the option to be seen at an HTC as opposed to being forced by insurance companies to see an oncologist.

            Women all over the world are gaining a voice through social movements and in politics. It’s time for the medical field to give us a voice—and answer, as well.

Milora Morley lives in Los Angeles, CA. She is employed as a business data analyst for Cedars-Sinai Medical Center. She uses her free time productively, as a small business owner of Paramedical Tattoo Services.

A Star is Born

Continued from last week; a profile in leadership. Andrea Trinidad, woman with VWD, who is changing lives for all with bleeding disorders in the Philippines. Reprinted with permission from Jojo Silvestre, the Daily Tribune. https://tribune.net.ph/index.php/2019/04/30/ambassador-for-bleeding-disorders/

Star was born with bruises all over her body. At three weeks old, she had a nosebleed that prompted her parents to take her to the emergency room.

Andrea told the doctors that her family has a history of bleeding on both sides. A nephew from her father’s side just got diagnosed with severe hemophilia.

“‘No, she can’t have hemophilia. She is a girl,’ the doctors told me,” recounts Andrea.
Star grew up having at least one nosebleed episode every week. On bad days, she would nosebleed daily. Finally, in 2006, Andrea brought Star to Hong Kong. It was there that she and Star were finally diagnosed with a bleeding disorder called Von Willebrand Disease (VWD).

More common than hemophilia

Hemophilia, VWD and other inherited bleeding disorders have similar symptoms — bruising, nosebleeds, gum bleeds, excessive periods, to name a few. While hemophilia is the most known bleeding disorder, VWD is actually the most common. According to the WFH, VWD affects roughly 1 to 2 percent of the population.

“That was also when I realized that there are very limited resources here for people with bleeding disorders,” Andrea shares. “Managing bleeding disorders is expensive. But the scarcity of medicines — the factors — is something that truly surprised me. That even if you have the capacity to purchase these medicines, there are times you can’t find enough supply.”

Andrea soon started a blog to share the family’s experiences and in some ways, reach out to people around the world who have the same bleeding disorder. She was surprised by the amount of attention her blog received and the number of people who linked up with her. She then saw an opportunity to learn more about rare bleeding disorders and share with others whatever knowledge she could gather. It opened a whole new world for her.

Founding Hemophilia Advocates

In 2008, Andrea met Laurie Kelley, founder of two humanitarian programs — Save One Life and Project SHARE. Laurie came to the Philippines to do a fact-finding mission to gather data on the situation of persons with hemophilia in the Philippines. She invited Andrea to come along. It was an eye-opener to the very sad situation of Filipinos with bleeding disorders. She vowed to help the community and became a local volunteer for Project SHARE and Save One Life.

In 2011, she was invited to become an ambassador for My Girls Blood, a US-based non profit specifically aimed at raising awareness that women can also be affected with bleeding disorders.

In 2016, Andrea along with four others, founded Hemophilia Advocates-Philippines (HAP). The group’s main goal is to push for government-funded treatment for people affected by bleeding disorders.

“Hemophilia and bleeding disorders are lifelong but manageable. If we have access to treatment, we can lead normal lives,” she says.

But that is not so for most affected Filipinos. Treatment for a simple, non-life-threatening bleed, such as internal bleed in the joints, could cost around P100,000 for a single infusion for an adult.

Through the network Andrea helped to build among donors and beneficiaries, HAP has been able to bridge that gap. International organizations, such as Project SHARE, send medicines to HAP, which in turn, distribute to those who badly need them.

Global ambassador

Andrea’s personal advocacy has brought her to different parts of the globe, at her own expense, to link up with other organizations, so she could learn more about it and also seek help for the less privileged Filipinos who also have the bleeding disorder but don’t have the means to get treatment.

“Being an advocate has helped me more,” Andrea says. “Our journey with von Willebrand Disease is no longer as lonely as it used to be. We now belong to a real community of people who ‘speak the same language.’”

When Facebook introduced the Facebook Group, Andrea started a support group, which then became the HAP, which celebrated its second anniversary recently. Aside from providing factors, the organization also helps empower patients through scholarships and business opportunities.

Legislative advocate

Since she started the blog, Andrea worked nonstop with her advocacy. Today, she is busy lobbying for the passage of Senate Bill 1335 or the “Bleeding Disorders Standard of Care Bill,” which seeks to give free treatment for persons with bleeding disorders such as hemophilia, VWD and other inherited bleeding disorders. The bill also seeks the establishment of Hemophilia Treatment Centers across the country.

She also hopes that through the proposed bill, medicines, especially donated factors from overseas, will reach its recipients the soonest possible time.

Andrea and her daughter still occasionally need blood transfusions but she no longer feels helpless unlike before. She is able to live with the disorder while seeking help for others at the same time.

“If I wanted to, I can just focus all my energy on me and my daughter,” she says. “But I believe that I inherited this disorder for a reason. For as long as I can, and for as long as the hemo community needs me, I will continue with my advocacy of helping them.”

Begging Your Pardon, Ma’am

This past week I received two messages in response to our August issue of PEN, from two different people, both concerned about our predominant use of the word “he” whenever we wrote about hemophilia in the issue. Was it an oversight? Aren’t we aware of the growing movement to get women recognized not just as carriers, but as people with hemophilia? It matters: women as just carriers with symptoms don’t get the same treatment or attention as males with hemophilia. And this can be dangerous.

We certainly recognize this and wrote a full feature article about this in the November 2016 issue of PEN. And just a year ago, this great article below by Paul Clement. On page two of each issue we always state why we predominantly use the word “he”: because mostly it’s men who currently make up the majority of cases of hemophilia, but also, as writers and editors, it’s awkward to write he/she, or even to use “they.” However, back to the editorial board on this one! We will convene as a team, and decide for each article how to include the words she, girl, her more often. We promise. We are grateful to our readers for alerting us to this, and all we can say is, please accept our apologies. We will work to include women as patients, not just parents, more often in our publications.

 

And the Survey Says . . .  Carriers, Get Tested!

Paul Clement

Women have hemophilia too! Although much progress has been made over the past two decades in getting this message out, public awareness of bleeding disorders among women is dismal. Even women who are known carriers of the gene for hemophilia often don’t realize that they can have hemophilia and be at risk of bleeding. Even carriers confirmed to have bleeding problems, and diagnosed as “symptomatic carriers,” have run into roadblocks in accessing proper care.

Why are so many women undiagnosed?

The main reason is that they don’t suspect they have a bleeding disorder and don’t seek medical treatment. In spring 2010, a national study surveyed 1,243 women from the general public, aged 18 to 25, to assess their knowledge, attitudes, health behaviors, and menstrual experiences.1 Many questions were designed to determine if women knew the difference between “normal” and “abnormal” bleeding patterns. The results were disheartening. Most knew that a bleeding disorder is a condition in which bleeding takes a long time to stop (77%), or blood does not clot (66%). But the women surveyed didn’t know much about bleeding disorders, and only a few could identify risk factors for a woman with a bleeding disorder: periods lasting eight days or longer; bleeding through a pad or tampon in an hour or less; feeling a sense of flooding or gushing. Of the women surveyed who were identified as having one or more of these risk factors, only 20% had sought medical attention, and only 2% had been diagnosed with a bleeding disorder. Contrast this with studies showing that on average, 13% of women seeking medical treatment for menorrhagia (heavy periods) have von Willebrand disease (VWD)!2

Bottom line: Most women don’t seek medical treatment for menorrhagia, and if they do, few are correctly diagnosed with a bleeding disorder. To increase awareness, National Hemophilia Foundation (NHF), Hemophilia Federation of America (HFA), and other advocacy organizations have launched multiple programs for women with bleeding disorders. These organizations are now doing a great job providing resources for diagnosed women. But it’s obvious that we must do a better job, to reach more women in the general population—to educate them about the risk factors and encourage them to seek medical treatment.

Lack of physician awareness

What happens when women do seek medical treatment? We’ve made some headway, as results from two different surveys show. A 2002 survey of 376 members of Georgia Chapter of the American College of Obstetricians and Gynecologists wanted to understand methods of diagnosing and treating menorrhagia, and to determine physicians’ experiences and perceptions about bleeding disorders, particularly VWD.3 The results were enlightening—and

shocking. Only 3% of responding physicians considered VWD a likely cause of menorrhagia in women aged 15 to 44. When asked how many women with menorrhagia might have an

inherited bleeding disorder, physicians’ average response was “less than 1%.” Most shocking: after practicing an average of 20 years, 42% of responding physicians reported never

having seen a woman with menorrhagia who had a bleeding disorder. But statistically, each physician annually saw several hundred patients with menorrhagia who had VWD!  Not surprisingly, the survey showed that gynecologists rarely (3%) refer a woman with unexplained menorrhagia to another specialist.

Fast forward a decade. In 2012, a similar survey of 503 ob-gyns had more positive results: nearly 39% of obstetricians and 77% of gynecologists were likely to consider VWD or another bleeding disorder as a cause for menorrhagia.4 And over 80% who had seen patients with menorrhagia attributed the problem to a bleeding disorder. Perhaps most important, instead of referring patients to specialists only rarely, most physicians referred patients with menorrhagia to other healthcare providers, nearly 45% to hematology.

Although it’s hard to compare surveys of different physicians a decade apart, the change in demographics of the patient population at hemophilia treatment centers (HTCs) also reflects an increased awareness in the medical community of bleeding disorders in women. Between 1990 and 2010, the HTC population grew 90% from 17,177 to 32,612—and most of this increase was due to additional VWD patients.5 This increase is expected to continue; unfortunately, these numbers only scratch the surface of the estimated 3.2 million people in the US with VWD, half of them women.6

Hemophilia carriers with low factor levels

The normal range of factor VIII and IX is between 50% and 150%, with most people being close to 100%. Factor VIII levels often vary, and may more than double due to the effects of hormones and other variables, such as stress or pregnancy. Factor IX levels

normally remain fairly stable. Being a carrier for hemophilia puts

a woman at risk of bleeding because of low factor levels. Carriers usually have factor levels between 30% and 70%, with most around 60%. But factor levels in carriers can vary widely, with some in the high-normal range and others below 10% (in extremely rare cases, below 1%). Research shows that even women with mildly low factor levels—40% to 60%—are at risk of bleeding.7 They may experience not only menorrhagia, but bleeding after tonsillectomy, tooth extractions, surgery, or trauma from accidents; and prolonged bleeding from minor cuts or joint bleeds. This isn’t well known among many carriers, so they may not seek treatment.

Every bleeding disorder advocacy organization offers educational materials on this topic, and it’s probably a safe guess that every chapter newsletter has published multiple articles on the risk of bleeding in carriers. Yet for a variety of reasons, the message hasn’t been received by everyone affected.

But simply seeking medical treatment for excessive bleeding may not be enough—you may have to advocate for yourself. Carriers with bleeding problems are often diagnosed as “symptomatic carriers,” and a course of treatment is recommended. Everything should be okay for these women, right? Not necessarily. The word “carrier” often conveys the wrong meaning. In decades past, it meant you had the gene for a disorder, but you yourself didn’t show symptoms of the disorder. Many physicians who are not bleeding disorder specialists still have this definition in mind, but we now know that carriers can indeed have the genetic disorder. We don’t know for sure how many carriers have excessive bleeding, but a common estimate is that about one-third of carriers have factor levels below 50%, placing them at risk. These women have a factor deficiency and mild hemophilia. They have often been diagnosed as symptomatic carriers because some doctors resist using the word hemophilia based on the simplistic notion that “only males can have hemophilia.”

The symptomatic carrier diagnosis must be laid to rest. Not only is it misleading, but it often prevents women from getting the treatment they need. And insurance companies increasingly use a literal definition of “carrier” to deny coverage for treatment, arguing that symptomatic carriers don’t actually have the disorder. If your factor level is lower than 50%, request a diagnosis of mild (6% to 49%) or moderate (2% to 5%) hemophilia!

Knowing your factor level is essential. To rule out low levels, all women who are carriers should have their factor level checked (and if you are a carrier for hemophilia A, checked at least twice). If your levels are below the normal range, request a diagnosis of hemophilia. And get the word out: talk to your peers and let them know that most carriers are at risk of excessive bleeding.

 

  1. Patricia A. Rhynders et al., “Providing Young Women with Credible Health Information about Bleeding Disorders,” American Journal of Preventive Medicine 47, no. 5 (2014): 674–80. 2. M. Shankar et al., “Von Willebrand Disease in Women with Menorrhagia: A Systematic Review,” BJOG 111 (2004): 734–40. 3. A. Dilley et al., “A Survey of Gynecologists Concerning Menorrhagia: Perceptions of Bleeding
Disorders as a Possible Cause,” Journal of Women’s Health & Gender-Based Medicine 11 (2002): 39–44. 4. Vanessa R. Byams et al., “Evaluation of Bleeding Disorders in Women with Menorrhagia: A Survey of Obstetrician-Gynecologists.” American Journal of Obstetrics and Gynecology 207, no. 4 (2012): 269.e1–e5. 5. Judith Baker et al., “US Hemophilia Treatment Center Population Trends 1990–2010: Patient  Diagnoses, Demographics, Health Services Utilization,” Haemophilia 19 (2013): 21–26. 6. F. Rodeghiero et al., “Epidemiological Investigation of the Prevalence of von Willebrand Disease,” Blood 69 (1987): 454. 7. I. Plug et al., “Bleeding in Carriers of Hemophilia,” Blood 108, no. 1 (2006): 52–56.

Originally published in PEN, August 2017

 

 

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