Women Must Keep Pushing for Hemophilia Diagnoses
Today my hematologist complimented me. She told me that, had I not persevered, I may have only been labeled a “carrier” and my bleeding disorder may not have been adequately understood. For me to be healthy, it is critical that my bleeding disorder is understood. My hemophilia sisters need to have their disorders understood as well.
Today I pause and remember the incredible journey to diagnosis and treatment I have taken as a woman with hemophilia. I am so thankful I am no longer labeled a “carrier” or a “symptomatic carrier.” My hemophilia sisters must often fight for accurate labels as well. Wrong labels impede access to necessary treatment.
Today I am thankful I have been diagnosed with hemophilia, just as a man with my identical factor levels would be diagnosed. It can often be a battle for diagnostic equity. Many of my hemophilia sisters must push for a correct diagnosis.
Today I received genetic testing results confirming which mutation causes my hemophilia. My factor levels are high enough that, on paper, it looks like I should not bleed as much as I do. The genetic tests revealed my mutation is a rare one that prevents the low amount of factor VIII I do have from binding properly to von Willebrand factor and stabilizing in my bloodstream. As a result, the FVIII I do have is not functioning as well as it should. Many individuals with hemophilia do not have details on their specific mutation and how it affects bleeding. Without that information, I might not have access to the care I need. My hemophilia sisters need to be able to access genetic testing and obtain mutation information relevant to their bleeding issues.
Today I am thankful to be heard. When I approached my hemophilia treatment center (HTC), they did not dismiss me, as many women experience. My amazing hematologist, nurse, and physical therapist listened and worked hard to understand my bleeding tendencies. I sent photos of bleeds and healing, documented pain levels, and explained what did and did not work. My hemophilia sisters must document their bleeding, often significantly more than their male counterparts with identical factor levels, to ensure doctors understand their bleeding issues. Sharing this information is often key to accessing treatment.
Today I cried. Tears of relief. I do not have to fight anymore. I am seen. I am heard. I am, finally, believed. I have access to the treatment I need. If I have a joint or muscle bleed it now heals in days instead of in weeks or months. My quality of life has improved immensely. My hemophilia sisters must persevere as long as they need to.
Today I stand and say, “I am a woman with hemophilia.” If you have bleeding issues and are being silenced or dismissed, keep persevering. Find a female-sensitive HTC that will work with you. My hemophilia sisters, you deserve to have an accurate diagnosis, equitable to men with the same factor levels you have, and to receive appropriate care.
Today I thank my hematologist. Thank you for complimenting me on my perseverance. You were one of the first hematologists to understand that my litany of questions and abundance of shared research was not meant to be threatening. It was my desperate need to understand and “prove” my bleeding issues were real. Thank you for partnering with me. Thank you for listening, caring, and validating my experiences as a woman with a bleeding disorder. Thank you for continuing to help me figure it out. I pray all my hemophilia sisters will be fortunate enough to find similar care and see their quality of life improve too.
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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 Services, and are intended to spark discussion about issues pertaining to hemophilia.
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Comments
Paul Clement
Congratulations Shellye! IMO, the term "symptomatic carrier" should be abolished. I feel it is one of the major road blocks to women being properly diagnosed as having hemophilia. In addition, for women, the upper range of mild hemophilia should be increased from 40% to 60%, as many women in this range also experience bleeding problems. Keep on persevering for your fellow hemophilia sisters!
G Shellye Horowitz
Thank you so much, Paul! I agree with your comment re: reclassifying mild hemophilia. At the moment NHF, HFA and the CDC are all saying mild hemophilia is 5-49%. This is a little better than the 40% it used to be, but we still have a way to go! Also, somehow classification systems must account for the realities that factor levels are moving targets in those with mild hemophilia. With stress, trauma, hormones and other realities impacting levels, it is hard to get a true read of the baseline factor. I have been at home during COVID = little activity, injury or pain. I hit an all-time factor low. I think it is because my body was not trying to make extra to repair the constant issues I usually have.... so it is really tricky. At some point, we may find that even the chromogenic FVIII Assay is not accurate enough to diagnose and treat mild hemophilia.