My grandmother had a bleeding story. I had a hemophilia diagnosis.
If you’re the first with a diagnosis, future generations may look to you for answers
Written by |
Every new hematologist asks the same question: “Who else in your family has it?”
For most of my life, the answer was nobody. Nobody with a diagnosis, anyway. I was diagnosed with hemophilia B and von Willebrand disease (VWD) in 1975, at age 10, and I was the only one in my family with a name for what was wrong.
My parents had no idea what any of it meant. They were young, and the support systems families lean on today didn’t exist yet. They had no one to call. No other parent who’d been through it.
But there were stories. We just didn’t know they were stories about bleeding disorders.
When I hemorrhaged after my tonsillectomy, my maternal grandmother told us the same thing had happened to her. She was never diagnosed. Nobody connected it to anything. It was just something that had happened to her once, a long time ago.
Two diagnoses, two different stories
My parents were tested, but nothing showed up. So I was told that both my hemophilia and VWD were caused by new genetic mutations. As it was explained to us, they hadn’t traveled down through generations. They had started with me.
With hemophilia, having no known family history is less rare than it sounds. About one-third of people diagnosed with hemophilia are in that position.
My diagnosis left me with questions I didn’t know to ask until much later. If this started with me, could it continue through me? What would it mean for a child?
Those are genetics questions. For women, they’re also pregnancy questions. Pregnancy wasn’t a door I got to open.
The question I never got to answer
In my mid-30s, I nearly bled to death during a procedure to remove a polyp from my uterus. I was told there was no way I could become pregnant. A hysterectomy or a uterine ablation was suggested.
I don’t share that for sympathy. I share it because it’s a consequence of bleeding disorders in women that almost nobody talks about. We talk about heavy periods as an inconvenience: ruined sheets, missed school, iron pills. We rarely talk about how bleeding, and the medical advice we receive about it, can shape whether, and how, a woman builds a family.
For women considering pregnancy, the questions multiply. Will I pass this on? Should I have genetic testing first? Who manages my factor levels during delivery? What about afterward, when postpartum bleeding is a concern? Those questions deserve answers from someone who knows the science. Not a search engine at 2 a.m. Not a doctor reassuring you that women are “just carriers.”
Bring your questions
On Thursday, Oct. 29, at 8 p.m. ET, Girls Bleed Too, the advocacy platform I founded for women and girls with bleeding disorders, is hosting a free webinar with the Hemophilia A Research Program (HARP): “Hemophilia Genetics & Hemophilia and Pregnancy.”
Our speaker is Jill Johnsen, MD, a physician-scientist who studies the genetics of clotting factors, including factor VIII, factor IX, and von Willebrand factor, and the ways bleeding affects women and girls. She’ll explain how hemophilia is inherited, why women and girls can have it, what genetic testing can and can’t tell you, and how to plan for pregnancy, delivery, and the postpartum period. Then she’ll answer your questions live.
The session runs one hour on Zoom. You can join muted, with your camera off. Already have a question? Add it when you register, and we’ll pass it along to Johnsen ahead of time. Registration is free at girlsbleedtoo.org/events.
It’s for women with hemophilia, carriers, parents, and family members. It’s also for the women who were told it doesn’t run in their family.
If you’re the first with a diagnosis, you may also be the person future generations look back to for answers.
My grandmother had a story and no name for it. I had the name. The next bleeder in your family deserves both.
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 consult your physician or another qualified healthcare 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.
Leave a comment
Fill in the required fields to post. Your email address will not be published.