An Inherited Disorder: Von Willebrand Disease

IT STARTED WITH a nosebleed. Jennifer Wakefield was no more than 1 year old at the time, and while even a small bleed for a child that young would be frightening, for Jennifer and her parents, the situation proved terrifying and unstoppable. After losing an alarming amount of blood, Jennifer was rushed to the hospital where she eventually was diagnosed with type III von Willebrand disease.

Von Willebrand disease, an inherited disorder that affects the blood’s ability to clot properly, is named for Dr. Erik von Willebrand, who first described the condition in 1926. Von Willebrand disease is the most common inherited bleeding disorder, affecting as much as 1 percent of the population. Unlike hemophilia, which affects mostly boys, von Willebrand affects boys and girls equally. Type III, Jennifer’s disease state, is by far the most severe.

A Childhood Interrupted

When Jennifer was diagnosed with von Willebrand in 1968, treatment options were few. Even diagnostic accuracy was limited, and testing of family members to determine how Jennifer contracted the disease proved inconclusive (it was later determined that the disorder stemmed from her father’s side of the family). Jennifer’s treatments initially involved time-consuming plasma infusions to replace her missing von Willebrand factor and factor VIII.

“When I was a child, I pretty much spent two weeks out of every month at the hospital,” the Clinton, Mich., resident recalls. “There were even teachers and study areas in the children’s wing for kids like me who spent so much of their time there.”

By the time Jennifer was 10, treatment protocols evolved, and she became one of the first homecare infusion patients in her area. Later, as an adolescent, Jennifer struggled with one of the issues unique to females with bleeding disorders: excessive bleeding during menstrual cycles. After a particularly heavy cycle left her hospitalized, Jennifer took her physician’s advice and opted for a hysterectomy at age 19. She’s never looked back.

“It changed my life,” Jennifer says. “After the hysterectomy, I was really healthy and I had such a sense of relief — it really was one less thing to worry about.”

A Second Diagnosis Brings Setbacks

As a young adult, Jennifer lived a reasonably normal life for many years, moving to California, attending college, embarking upon a career and getting married. Unfortunately, her reprieve from a life defined by chronic illness ended in 1991, when at her doctor’s insistence, she was tested for HIV.

“Because of the contaminated blood products that circulated back in the 1980s, most patients with bleeding disorders were encouraged to get tested for HIV back then,” Jennifer says. “I had no symptoms and did not want the test, so naturally I was devastated when I learned I was HIV positive.”

A newlywed with what she thought was her whole life ahead of her, Jennifer remembers spiraling into depression following her HIV diagnosis, widely considered a death sentence in the early 1990s. Eventually, her passion for life and fighting spirit helped her overcome this physical and emotional setback. “One day, I woke up and realized that I still felt good, I had a wonderful supportive husband, and despite the diagnoses, I needed to get on with my life,” Jennifer explains.

One of the many challenges inherent in dealing with multiple chronic illnesses is the onslaught of medication side effects. Some of Jennifer’s HIV medications, for example, have caused von Willebrand-related joint bleeding around her knees (she’s had four knee surgeries and a total knee placement). “It was difficult finding HIV medications my body could tolerate,” Jennifer says. “When you have a bleeding disorder, certain medications for HIV can actually cause bleeding. It’s a real Catch-22.”

In addition to von Willebrand and HIV, Jennifer also was diagnosed with hepatitis C in 1993, another byproduct of the once-tainted blood supply used for hemophilia treatment. Still, Jennifer considers herself fortunate to have had access to some of the country’s best medical care, including several renowned physicians at the Henry Ford Hospital in Detroit. Today, she is free from hepatitis, and her HIV is under control, but the ongoing and long-term impact of von Willebrand disease is something she deals with daily. Physical therapy helps her debilitating shoulder and knee problems, and a strong support system of family and friends keeps her from falling prey to self-pity.

Living to Give

Never content to sit on the sidelines, Jennifer is active in support groups and volunteers as an advocate for those with bleeding disorders. A board member for the Hemophilia Foundation of Michigan, she is actively planning the organization’s annual “SpringFest,” Michigan’s largest consumer education conference for people with blood disorders, including children and their parents. The event typically attracts more than 500 attendees from across the state.

“My 10-year-old niece has type I von Willebrand, and I’m taking her to SpringFest so she can meet other kids like her,” Jennifer says. “When I was a kid, there was so little information and virtually no support. Now, there are kids’ camps, workshops and support groups. It’s wonderful to be a part of something that can improve the quality of life for the next generation of patients living with this disease.”