Champions of Change Blog

Remember the ME in Medicine

I am fascinated by precision medicine, both personally and professionally.  As Americans, we want the best in healthcare, and we have many examples of great healthcare happening around us. Traditionally, though, the focus has been on the providers of care, such as doctors, nurses, and hospitals. With precision medicine, there is great potential to shift the focus of care to each individual, rather than through a lens of the “average” patient.

I’ve spent my entire career working in healthcare, both as a nurse, and then building and implementing electronic health records for doctors and hospitals. When my daughter Morgan was diagnosed with a rare disease called Juvenile Dermatomyositis at 11 years old, I learned firsthand just how fragmented and provider-centric the healthcare system actually is. She went from being a competitive gymnast with award-winning tumbling to a very sick girl who had trouble walking up the stairs or riding her bike down the street.

After over a year of unexplained symptoms, we finally found a diagnosis. It was the most terrifying day of my life when the doctor told me with tears in her eyes that my child had a life-threatening illness. The doctor gave me the “average patient” education that left us with a lot of questions and waiting three months to see a specialist. Fortunately, that very night, I discovered a non-profit organization called Cure JM where parents of children with JM gave me the names and emails of doctors who specialized in JM as well as important advice on how to survive until our first appointment which was weeks away.

This new chapter in my life ignited my passion for individualized care. Morgan went from a single pediatrician, to 12 different healthcare providers at six different health systems. She currently has 9 different patient portals, each with their own version of her medical information, their own user name, password, and URL to remember.  It wasn’t long into our journey when it hit me: How can her team of providers possibly understand her healthcare story if they only have access to a tiny piece of it?

As a co-founder of CareSync, I am proud of the work we have done to make patients individuals in the health system. By removing technology hurdles, portal logins, outdated information, and providing the patient with a place where they own their health information in a way that is collaborative, we have seen individualized results happen. Patients who were very sick are now feeling much better because the information helped them get a diagnosis that they were desperately seeking or because they are no longer taking medications that shouldn’t have been prescribed together. By connecting family members, patients, providers, dieticians, physical therapists, school nurses, and other providers together with the patient at the center of their care, errors have been corrected, and unnecessary tests, procedures, and hospitalizations have been avoided. These amazing accomplishments came simply by fostering knowledge and collaboration, and by giving people the power and encouragement to access their health information, and the ability to share it with those who need it.

My challenge to our entire healthcare system, and especially the innovators looking to make it better, put the patient in the center. Break up the silos of information that prevent individualized medicine to take root and grow into something beautiful. Combine the data, all of it, including genetics, medical records information, patient-generated data, with the collaborative, innovative minds of Americans who will create amazing discoveries to improve healthcare. It’s the American way, and it is time that we, since we’re all patients, demand it in healthcare.

Amy Gleason is the Chief Operating Officer at CareSync and the Vice President of Research for the Cure JM Foundation. She lives in Tampa, FL.

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).