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 [...] continue the story