Patient-Powered Innovation Drives Precise Care, Enhanced Quality of Life for Rare Disease Community

Several months after my son was born in 1977, his health began to fail dramatically. After repeated trips to his pediatrician and six weeks at Johns Hopkins Hospital, he was diagnosed with X-Linked Agammaglobulinemia, a primary immunodeficiency disease (PI), which are a group of more than 250 rare, chronic disorders, in which part of the body's immune system is missing or functions improperly.

I began researching to find information about what our family was facing. In that pre-Internet age, information was hard to come by, and the journal articles and details I could find were often outdated.

With regular immunoglobulin treatments, my son’s health improved greatly, but the lack of information became increasingly frustrating. My husband and I, along with another family and my son’s immunologist, decided to create a national patient organization for patients with PI and their families. The Immune Deficiency Foundation (IDF) was formally incorporated in 1980.

From my kitchen table, I used my work experience and master’s degree in library service to compile information for other patients and their families. We had to be innovative to create educational materials that met the needs of our growing community, and we had to collect data on the patient experience from comprehensive surveys to support our efforts and advocate on behalf of the community with policymakers.

Thirty-five years later, our organization has grown and helps thousands each year. Our national conferences, retreat weekends and patient meetings throughout the U.S. provide meaningful in-person educational opportunities for individuals and families living with PI. Our full spectrum of educational publications have been a hallmark of IDF’s efforts and have been heralded as the best patient resources about PI in the world. To provide easier access to more people, our online presence has evolved tremendously. 

IDF has always focused on the patient and leveraged technology to help give researchers insight into the patient experience. Most recently, we developed an electronic personal health record (IDF ePHR) for the PI community that allows patients with these complex disorders to better manage their health. IDF ePHR, sponsored in part by CSL Behring, has become a valuable tool for our community, generating an enthusiastic user response. To provide the most advanced platform, we recently partnered with Get Real Health. After receiving a grant from PCORI, we created PI CONNECT, the IDF Patient-Powered Research Network, to bring together patient data from IDF ePHR with clinical data from the United States Immunodeficiency Network (USIDNET) patient-consented registry, which is a program of IDF and is funded in part by the National Institute of Allergy and Infectious Diseases (NIAID) and the National Institutes of Health (NIH). Patients can let their voices be heard by joining conversations in the PI CONNECT Research Forum. Bringing together this information and the patient voice holds great promise to provide researchers further insights about the diagnosis and treatment of PI, ultimately helping to improve quality of life for patients.

PI CONNECT has already attracted more than 1,000 individuals who want to make a difference and drive more precise treatment and individualized care.

Looking back, it is amazing to see how far we have come since the days at my kitchen table—the amount of research and information that is available as well as the mobility and ease of access new technology provides. The impact IDF has had is nothing short of life-changing.

Marcia Boyle is the President and Founder of the Immune Deficiency Foundation (IDF), the national patient organization for individuals with primary immunodeficiency diseases (PI).