Heather Kirkwood’s mother always suspected her children had a bleeding disorder. During their childhood Heather and her younger brother were tested four different times for suspected bleeding disorders, but every time the tests came back negative. At 21, after two years of fighting what had been diagnosed as Crohn’s disease, Heather was severely bleeding from her large bowel. Doctors felt an ileostomy was the only solution, but were concerned about the bleeding. It was then that a hematologist suggested she might have Hermansky-Pudlak Syndrome.
At the time so little was known about the syndrome, and so few people diagnosed, that the diagnosis was made based only on clinical presentation. Heather had no idea HPS was at all related to albinism, or that it put her at risk for pulmonary fibrosis.
A decade later, while seeking a second opinion for an unrelated complaint, a physician asked Heather for more information about HPS. “I’d been told it was a minor bleeding disorder and was easily treated, so I never thought much about it,” explains Heather, “I went online to do some research to answer the doctor’s questions, and it was only then that I discovered how serious this syndrome can be.”
Heather immediately reached out to the HPS Network for support, and within months, was participating in research at the National Institutes of Health. “It’s such a hopeless feeling to learn you have a disorder that, ultimately, is 100 percent fatal and for which there is no cure. Even though I was still very healthy, the anticipation of what might happen one day was overwhelming,” Heather explains, “By participating in research I had something solid to be hopeful about.”
Three years later Heather’s CT scan began to show pulmonary fibrosis. Heather entered a three-year clinical trial for an investigational medication to treat pulmonary fibrosis. While for Heather participation was an easy choice, it wasn’t without costs. For three years Heather went to the NIH every four months for a week. The visits used up vacation time that might have been spent on holidays or with family and friends. “It was worth it, “ says Heather, “Without participating in research, I know for sure what the future holds. Research is the only thing that can change that future. It gave me back some of the bitter sweet unknown about the future other people take for granted. It gave me back my hope.”
At the end of the study Heather learned she was on the placebo. She was surprised. When she began taking the medication, every alteration in her body felt like a cause for hope – a sign she might be on the active drug. The diarrhea she experienced in the beginning, some of the rashes that came along later, even an improvement in pulmonary function tests made Heather feel sure she was on the active drug.
After getting over the surprise of learning she was on the placebo, Heather says she doesn’t regret the experience one bit.
“Even though I was on the placebo, I’d do it all over again. It’s what we have to do to find better treatments someday. Without clinical trials, patients like me have no hope.”
Today Heather works as a freelance writer as well as advocate for those with HPS. She is anxiously awaiting the next opportunity to participate in another clinical trial.