Addressing Healthcare Barriers and Solutions for Youth and Parents in the Bleeding Disorders Community

Thank you for attending this World Hemophilia Day talk sponsored by the Global Centre for Disability Studies at U of T Scarborough. It is World Hemophilia Month, and World Hemophilia Day on April 17th was founded in 1989 in honor of Frank Schnabel, who founded the World Federation of Hemophilia.

I am a well-known disability activist in Toronto and nationally as a wheelchair user. I have many medical conditions, but today I want to focus on bleeding disorders. I want people with bleeding disorders to have access to the care and medications they need, as well as a community ready to receive and support us.

I want to start by saying that I don’t have hemophilia, but I do have a platelet disorder presenting as increased bleeding time and significant platelet function assay abnormalities. My bleeding tendency has recently been identified as a Surpine-1 gene mutation, resulting in complete plasminogen activator inhibitor deficiency (PAI-1). The Surpine-1 gene mutation is extremely rare and linked to many other health conditions.

Although I grew up mostly in Scarborough, my family lineage is from Central Newfoundland, where there is a much higher prevalence of bleeding disorders than the rest of Canada. In Central Newfoundland, the higher prevalence of bleeding disorders is linked to the founder effect. It is appropriate to say that I have both genetic and acquired reasons for my bleeding, as three years ago, my bleeding tendency worsened for reasons that are not fully understood.

The too-rare retelling of how the medical community views bleeding disorders is not what I want to focus on. What I am called to focus on is visibility for the bleeding disorder community, access to care, and the removal of barriers to care.

When it comes to bleeding risk and abnormalities, I can say that I have had stellar care throughout my life. At the same time, I have a wish list for ideal care and optimal health outcomes that are worth sharing. I was diagnosed with a bleeding disorder in my early 20s at Hamilton Health Sciences Centre. At the time, I was not offered genetic testing, something I wish I had pushed for, as it would have made a difference in my care, and more recently, in the care of my children.

In that series of appointments, I don’t remember conversations about place of origin, although that may have happened. However, healthcare and science were underfunded by governments at the time, as they are now. That is an important consideration, as I’m not sure if genetic testing would have been publicly funded or what the process would have looked like had it been offered. Simply knowing about genetic testing is not the same as having a funded program for it. Retrospectively, I can say that genetic testing would have been helpful in making my bleeding presentation clearer.

I want there to be more support for people with an increased bleeding tendency. I want there to be more space for things that are rare, more space for differences that may have many factors, and for patients to have more inclusion and say in health systems research that is meaningful for the bleeding disorder community.

When I was planning a family, I had a negative experience at a fertility clinic, where the OB-GYN insisted on getting a letter from my hematologist before proceeding. The OB-GYN said, “I just need hematology to confirm that we cannot screen out this platelet disorder because you wouldn’t want your kids to get it.” When I told her that it was complex and characterized at the time as a bleeding disorder of unknown cause, that it could be genetic, acquired, or a combination, the OB-GYN insisted that she required confirmation.

My lovely hematologist wrote the letter and was quite taken aback by the request. He said, “I’m Jewish, and I have red hair. This kind of request is crazy-making! Many of my patients are pregnant. Having a bleeding disorder is not a contraindication to pregnancy.” That’s all the letter said, "Not a contraindication to pregnancy."

This firm comment and assertion of care, acceptance, and recognition are so needed in the medical and broader communities. In my experience, in a hematologist’s office, often what is considered ultra-rare is more familiar, manageable, and expected. There is often a sense that I am expected to live my best life and, at least in that interaction, to focus on growing the best babies (as a point of choice). This is a strength that I see in bleeding disorder care and in the bleeding disorder community.

For example, I revel in terms like “bleedership,” and I am very familiar with the history of the community and some of its not-so-long-ago struggles, such as the Krever Report, in response to the tainted blood scandal. There is also recent, necessary activism to keep transfusion injury and error at the forefront of health systems, patient-facing research, and data science.

I do think that there are people with very rare bleeding conditions who are under-supported and overlooked, and that can be very tricky for those individuals and families. For example, I have not met anyone with Surpine-1, and it also has many co-occurring conditions. It has been my experience that in my extended family, there isn’t a willingness to talk about health histories, and menstrual cycle bleeding is considered quite taboo as well.

When each of my kids was born, I was told that, ideally, the placenta could be tested for many bleeding disorders, and I consented to this. However, my children would have had to be born during daytime hours to use this time-sensitive test. As it happened, both of my kids arrived after hours. I would also share that I think the advice for girls with a family history of bleeding to be seen by hematology once their menses start is a bit misguided, especially since my children have other medical conditions and like to play sports. As a parent, I requested that my little girl be seen sooner based on bleeding symptoms, the same was true for my little boy.

In our house, we use anatomical terms for body parts, and I don’t deviate from that. I think this is a healthy way to teach children about their bodies. It is critical for body positivity and to help children centralize their bodies in language.

Another barrier I have experienced that has had a profound impact on my life and parenting is access to surgical treatments to help stop excessive vaginal bleeding. Hematology always advocated for me to get treatment, but access to surgical care and specialist care suffers from gatekeeping and being under-resourced, with long wait times. I would often have procedures with the goal of stopping bleeding, only to have to stay in the hospital because the procedure was causing more bleeding. Ironically, I found that I could handle surgical outcomes every time, but many surgeons are undereducated when it comes to bleeding risk and a bleeding history.

My kids know that I have been in the hospital because of excessive bleeding on many occasions. Women’s health in Ontario is chronically underfunded, under-resourced, and under-researched. It requires big changes with much more attention paid to it.

Since I am well-connected in the bleeding disorder community, I know of others who were initially denied needed surgeries on the basis of misinformation about bleeding risk, which is a barrier for patients and one that I have come up against time and time again. Further, access to medical care is uneven within the province of Ontario, across Canada, and certainly in the global context.

Within Ontario, I would love to see more drugs added to the drug formularies in the province that can assist people with bleeding tendencies. I would also love to see current effective therapies being offered to patients who need them, regardless of where they are or when they need them, so that drug access inequities are bridged.

My beautiful kids are now seen and supported at the hematology program at SickKids because they do have bleeding symptoms. I now know, 20-plus years after being diagnosed, that my kids are carriers of Surpine1, which is not the same as having the full mutation, based on my own genetic testing. Genetic testing for my kids to date is not back yet, it has taken many months to get there.

From my children’s perspective, we are always trying to make appointments as fun as possible. My kids had different appointment dates but decided to be hematology ducks in their appointments. Hematology, quack, quack, quack.

What has been beautiful and tricky at the same time is communicating medical conditions within the school system for young children. Since young children are exposed to many professionals and carers in schools, it can be near impossible for everyone to be on the same page. At the same time, it is also difficult for young kids to know how to address a medical need, as it is a learning process that takes time to integrate.

World Hemophilia Day is now recognizing all bleeding disorders, and there is more recognition in language and in everyday interactions that bleeding disorders are on a continuum. We have so much work to do as a community to increase visibility and access to care, where care might be absent or nearly impossible to access. I say this because many people with bleeding disorders remain undiagnosed.

I am proud to be able to bring this small group of folks together today to put a glimmer into that sky so that more people may have a better understanding of the bleeding disorder landscape, but also about what is possible and what is imperative for the future of the bleeding disorder community.

I want to say a huge thank you to Dr. Vannina Sztainbok for her facilitation, Nishan Sarkar, Berhane Certo, and Keat Welsh for helping me organize this talk today. I also want to thank OISE and the Centre for Global Disability Studies and its founder, Dr. Cassandra Heartbly, for making this event possible. Please go to the QR code on the poster, which will take you to an online link to donate to Hemophilia Ontario. All proceeds will go to programs for people living with hemophilia.