The uphill battle to receive a von Willebrand disease diagnosis
A woman with a rare variant of the disease describes the setbacks she's faced
I met Jennifer Hastie last year at the Hemophilia Federation of America’s Mild Matters Summit in Tulsa, Oklahoma. Along with two of her three daughters, Jennifer has von Willebrand disease (VWD) type 2B, a rare variant. We share more than just a name: Jennifer is also 58 and lives in Florida.
We connected at a recent women’s retreat and continued chatting over email. Excerpts of our conversation, lightly edited for clarity, follow.
JL: When were you diagnosed?
JH: I was formally diagnosed at age 56 via genetic testing. My daughters were diagnosed at 5 years old and 18 months old.
What hurdles did you face while seeking a diagnosis?
Getting diagnosed was challenging, to say the least. I saw four hematologists in Tampa before I found one who took me seriously. It was frustrating. My childhood symptoms were similar to those of my daughters. There was no way to prove it, as medical records weren’t digital back then, so they had all been destroyed.
As an adult, my oldest daughter saw a nurse practitioner whom I had then been seeing for 20 years. After the nurse practitioner saw my daughter, she asked if I had a bleeding disorder. I told her I had not gotten a diagnosis. She ordered a genetic test for me, and it came back positive for 2B. Not a single hematologist I visited even offered that as a possibility.
Can you tell me more about your experience living with it?
At age 4, I had my first surgery for a hernia. I bled a lot, so the doctor told my parents that I should never take aspirin [aspirin causes bleeding], but my parents never followed up on it.
I had horrific nosebleeds where I bled for hours or even all night. My periods were bad, too. I would go to school and have to be excused to the nurse’s office because I bled through my jeans. The nurse told my mother that my bleeding was not normal, but again, nothing was addressed. I certainly used the “tie a sweater or jacket around my waist” to hide the blood many times.
My longest period lasted nearly three months. By the end of it, I was so exhausted I thought I would die. I was anemic much of the time, but I was just put on iron. I tried to comply, but I couldn’t stomach the pills.
What is your treatment regimen?
My treatment regimen currently is to “prophy” [short for “prophylaxis,” or preventive treatment] with Wilate every five days.
How does it impact your daily life and activities?
I use a cane. My right knee may be ruined. I have neuropathy bilaterally in my lower extremities, which causes a tendency to fall. I live with extreme pain on a daily basis. I cannot fully undo this kind of damage to my body at this late stage. I truly believe that if I had had access to factor earlier in life, I would not be in the physical shape that I am in now.
Prophy has changed my life. Without it, I would literally be in bed with my leg up all day, every day. I underwent a total knee replacement in 2020. It began to heal until physical therapy was introduced. My knee swelled and turned purplish.
The surgeon told me it was hemarthrosis [bleeding into the joint cavity], but my hematologist at the time told him I was fine and that it was just bruised. My current hematologist thinks it had been bleeding in the knee for well over two years by the time I started receiving factor.
What advice would you give to someone newly diagnosed with VWD 2B?
It’s hard to say what advice I would give a fellow 2B patient without knowing how they are affected, as it can vary greatly. My two daughters present differently. The youngest has a much worse time than the older one, but they both are symptomatic.
However, if a person bleeds like me, do not give up until you get what you think you need. Take pictures of your injuries and bruises. Send your pictures to your doctor via a portal, which will become part of your record. This evidence not only safeguards you, but it also safeguards your physician.
Do not give up if you feel you are not being heard, and I mean genuinely heard. I seriously had every reason to quit looking for an answer, but do not give in to that overwhelming feeling. You are the one who lives in your body every day, therefore, you are the expert.
There are many great hematologists out there, just keep looking until you find one that will help you. For me, it has not only been life-changing, but it has also been life-affirming. There were many times I wanted to give up on life completely, but something made me push through. Now I’m glad I did.
Thank you, Jennifer!
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, and are intended to spark discussion about issues pertaining to hemophilia.
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