“My introduction to von Willebrand disease was completely random.” Sara was at a business dinner with her husband, chatting with the wife of a colleague. The woman spoke about her nephew who had VWD, and because Sara had never heard of the disease, she asked for more information. The woman described her nephew's symptoms – prolonged nose and mouth bleeds, often accompanied by bruises with lumps under the skin. “I thought, whoa! This sounds just like my kids!” “I told my husband, who told his dad, who said ‘Oh yeah, my sister has that.’ Nice to know!” Sara had had nosebleeds as a child; she thought everyone experienced them. So, she wasn't overly concerned about her daughters' frequent and lengthy nose bleeds. On one occasion before their VWD diagnosis, one of her daughters bit her tongue and it bled for twelve hours. Sara called their pediatric dentist and, as he advised, just continued applying ice and pressure while waiting for the bleed to stop. Her twin daughters got tested at age 5 and came out positive, diagnosed with moderately severe VWD and designated Type 2. Her husband, undiagnosed until his 40's, was also tested and initially diagnosed as a mild Type 1 case. They surmised that the disease was inherited from Sara's father–in–law, although he was never tested. A bit later, while battling cancer, he developed a GI bleed. Because the doctors had no documentation about his possible VWD, he was treated with whole blood transfusions but was bleeding out. Sara tried to intervene with information about the factor replacement treatment recommendations that had been made for her husband, but it was too late. Her father–in–law died. “That put a fire in my belly to learn everything I could about VWD to protect my husband and my kids. This is not going to happen to them!”
Sara was a science major in college and had studied genetics for a year in graduate school. In addition, her work as a study coordinator for clinical trials in an ophthalmology clinic made her very comfortable with scientific research and analysis. And she had training in phlebotomy. “Add my concern for my family to my scientific background and you will understand that I am both passionate and uniquely prepared to deal with VWD. Plus, I am good at speaking with doctors – I understand that they're very busy people with a lot of patients to see. Often hematologists are also oncologists, and they focus more of their energy on cancer than on bleeding disorders. So, I believe that you have to make sure that you are asking questions and really communicating in order to get the care you need. You have to advocate for yourself or, in my case, for your family.” Sara went through a time of frustration that her family's VWD type couldn't be conclusively determined. Despite taking advantage of all current tests for VWD including genetic testing, her husband's and daughters' diagnoses didn't fit cleanly in one particular subtype. When Sara's daughters were first prescribed medication to treat their VWD, she was unaware that there were several options available to her. “My daughters were first prescribed Stimate® nasal spray, but I didn't like it because it can mess with your electrolyte levels. Later we switched to Humate–P®, then tried Alphanate®, which lasted for exactly one infusion.” Sara wasn’t pleased with the results of either product. Sara knew it was time to seek another alternative. “I started attending events and learning more myself. In my research, I discovered wilate®, and was attracted to the 1:1 balance of FVIII and VWD factor, and avoidance of buildup in the system of FVIII. Based on my family's factor levels, it made sense to me that wilate would be a good fit. Eventually I was able to enroll my daughters in a free product trial. Wilate performed beautifully for us, stopping bleeds in minutes.” Now that her family has an effective treatment plan, Sara has more patience in waiting for VWD subtyping labels for her family. When her daughters reached puberty, Sara's research led her to the option of suppressing menstrual bleeding altogether. Both daughters take continuous oral hormone pills to completely stop menstruation. “It was a very personal decision. Everyone has unique symptoms and needs – even my twin daughters differ in their experience with the disease. Because we had no family history of breast cancer and we were not concerned about blood clots, we opted for this approach to managing menstrual bleeds. It has worked for us, but it is not for everyone.”
Typically, only some Type 3 VWD patients infuse factor replacement prophylactically on a regular basis. This can mean that Type 1 and 2 patients have very limited experience with infusion, particularly self–infusion, and rarely have factor available at home. Sara wanted proactive protection in case of emergencies, and she wanted to be able to respond quickly and effectively when needed. She asked her hematologist to prescribe a supply of wilate. Essentially self–trained in infusion, she feels comfortable responding if and when required. “I feel super lucky to be able to infuse at home. It can take hours at the hospital to get this done. When my daughter recently had a 4 am nosebleed that went on for a few hours, I was so thankful that I had product at home. She is afraid of sticks. We used relaxation techniques and my husband sat with her and watched a show while I infused her. We treated her and the bleeding stopped. She wasn't even late for school! What would that have looked like if we had had to go to an ER? Sometimes the doctors and nurses there have no experience with factor. They may not know how to mix an infusion, really understand dosing, or have product readily available. It can take forever. Yes, you can request a home health nurse from your specialty pharmacy as an alternative. But I'm not even sure how long that would take.” Sara routinely keeps factor on hand at home and when traveling if she and her daughters are going to be away from home for any significant amount of time. Her daughters require infusions only about three times a year; her husband less often than that.
Managing VWD can take a huge amount of preparatory work, including dealing with insurance and specialty pharmacy companies. “It takes a lot of mental energy. I do everything. I can get burned out – that's why I want to help people take better care of themselves.” As an Octapharma Patient Educator, Sara makes sure she's aware of the current needs of the community so that she can address relevant issues. “I am a caregiver and I approach VWD from that standpoint.” Sara gives talks, does women's retreats, conducts art therapy with kids, and is active on Facebook – always endeavoring to educate people about VWD and how both patients and caregivers can thrive. “I do everything I can to get the word out about VWD, bleeding disorders, and caregiving – at school, at church, in my community, and online. I knew nothing about any of this until ten years ago – now I am committed to raising awareness.”
This material represents individual patient and/or caregiver experience living with a bleeding disorder.
This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Please consult with your local Hemophilia Treatment Center physician or other health care provider if you have any questions related to management of bleeding disorders.