Have you ever felt alone with a problem? In April 1998, I was terrified and alone with my problem. I was waiting for the results of a biopsy to rule out inflammatory breast cancer (IBC). Only my immediate family knew about the biopsy, and only my husband knew it was for a rare form of cancer that we had never heard of.
On my 50th birthday a week later, I got the results—I had IBC. The oncology director at the local hospital was a wonderful support, but she never answered my request for finding other IBC patients whom I could talk to. I learned later it was because the only other two treated at my hospital had not survived.
I had to explain to nurses why I hadn’t had a lump. Most of them had never heard of IBC. I had to decide over and over again whether to explain to friends and coworkers about why I was having chemo first, then a mastectomy, then more chemo, then radiation. Didn’t my doctor know about lumpectomies?
People with rare diseases feel isolated. In March I attended the 30th Anniversary Conference of the Genetic Alliance and learned that I am not the only one. Under the leadership of President Sharon F. Terry, the Genetic Alliance is a network of organizations and individuals representing more than a thousand diseases. Ginny Mason and I were there representing the Inflammatory Breast Cancer Research Foundation, which is one of the Genetic Alliances participating organizations. The theme, Co-creating a Healthy Future, emphasized the need for partnerships between patients, families, researchers, and medical practitioners.
Credit: Phyllis Johnson
I talked to people with all kinds of rare diseases who had the same story as I did. There were problems with misdiagnosis, sometimes for years. Once they or their children were properly diagnosed, the local doctor didn’t know how to treat the condition. They often had to travel across the country to find the one doctor who had experience with it. They had no peers who understood what they were going through.
As I had, they sought out other people with the same problem. We formed alliances to discuss common problems and to advocate for education about the disease in the general public and the medical community. Then many of our disease-specific groups banded together to find ways to improve the lives of patients and their families in the Genetic Alliance.
One major issue for the rare disease community is finding enough people to study. The Community Engaged Network for All (CENA) is a network led by Genetic Alliance working with 13 different disease advocacy organizations. CENA is helping groups with ways for patients and researchers to collaborate online, set research priorities, and share health data.
One of these projects that I have been involved in is the Platform for Engaging Everyone Responsibly (PEER). PEER is a patient registry that collects information online about the patient experience. It differs from some other registries in several important ways. First, the people most affected by the condition decide what data is important to collect, not a hospital or single researcher. Second, the participants can decide who can see their data, so patients can be comfortable that their privacy is preserved. Third, because the participants use a computer to supply their data, anyone in the world with internet access can participate. It is not necessary to live close to a research center.
More than 45 organizations and communities and over 15,000 people use PEER. The project was recognized at the White House in 2015 as one of nine platforms advancing precision medicine.
No Lump Required
The Inflammatory Breast Cancer Research Foundation’s part in all of this is No Lump Required, a registry for collecting patient experiences with IBC. The title of the registry reflects the fact that although some patients with IBC have a lump, most do not. The cancer is in the lymphatic vessels in the skin of the breast. The foundation wants to know about the experiences of patients with symptoms, diagnosis, treatment, and side effects. Because we are treated by surgeons, oncologists, and radiation oncologists, no one doctor sees the big picture of our experiences the way we patients do. Also the long-term side effects of our treatments are often not understood by the medical community.
Ginny Mason, Neil Spector, M.D., from Duke University School of Medicine, and I explain the project in short videos on the opening screen of the registry. Next participants can start the registry and add their voice to what we know about IBC.
Hearing the patient voice was a huge theme of the Genetic Alliance conference. In small groups, we brainstormed about ways to include patient perspectives in medical treatment. Speakers emphasized the importance of listening to patients and their families in ways that respect their culture and concerns.
Patients and the people who love them need to speak up. The Genetic Alliance is offering ways for people to make their voices heard. Together we can co-create a healthy future.
See more helpful articles:
Patient-Driven Research: You Have the Answers
Count Me In: The Metastatic Breast Cancer Project
Why You Should Attend a Cancer Conference
Phyllis Johnson is an inflammatory breast cancer survivor who serves on the Board of Directors for the Inflammatory Breast Cancer Research Foundation, the oldest 501(3)(c) organization focused on research for IBC. She is a list monitor for an online support group at www.ibcsupport.org. She stays current on cancer information through attendance at conferences such as the National Breast Cancer Coalition’s Project LEAD® Institute. A retired teacher, she has been writing about cancer issues at HealthCentral since 2007.