Learning from each other and growing together
Patients and patient advocacy organizations are the experts in their rare disease. Understanding the pathways of their lives is as important as understanding the pathways of cellular function.
This is something Donna Appell, founder of the Hermansky-Pudlak Syndrome Network (HPS Network), learned when her daughter hemorrhaged from Hermansky-Pudlak syndrome (HPS) and sustained a traumatic brain injury from acute blood loss at 2 years old. At the time in 1992, Donna searched for other families and research and found none. Since then, the HPS Network has kept a contact registry that now contains information on more than 1,300 people with HPS. Because of the high incidence and genetic founder effect in Puerto Rico, the HPS Network sends mail to families that are not technologically accessible, organizes school buses and vans to pick up affected individuals and take them to conferences, and continues in-person outreach after hurricanes to ensure no one is left behind.
HPS is a single-gene disorder involving albinism, legal blindness, and a platelet defect that causes bleeding. There are 10 genotypes, three of which (HPS 1, 2, and 4) cause fatal pulmonary fibrosis 100 percent of the time. HPS can also progress to inflammatory bowel disease and kidney disease in some individuals. There’s no treatment, quality of life is severely affected by vision impairment, and death can often occur in the 30s and 40s.
Through the Rare As One Network grant funding, the HPS Network hopes stronger collaboration with researchers and clinicians will help guide progress towards the development of new treatments.
“Understanding the pathways of rare disease patients’ lives is as important as understanding the pathways of cellular function.”