The meaning of health equity and solutions to barriers faced by members of the rare disease community were among the points discussed during the “Intersection of Race, Ethnicity, and Equity with Diagnosis and Treatment Access” session of the National Organization for Rare Disorders’ recent virtual Patient and Family Forum.
Connie Montgomery, a patient and family advisor at the National Hemophilia Association and a hemophilia patient herself, moderated the session. Montgomery told attendees how she finally received a diagnosis at age 30 following a car accident even though all the symptoms were there since she was a child.
The panelists were Lara Bloom, chief executive officer of the Ehlers Danlos Syndromes (EDS) Society, and Dionne Stalling, founder and executive director of Rare and Black, a patient advocacy group.
Bloom talked about her 13-year diagnostic odyssey which finally concluded when she was told she had EDS at age 24. Bloom touched on the difficulties she faced and how she was called a “hypochondriac” on many occasions due to “unconscious bias and judgment”. Stalling discussed the relief as well as anger she felt when she was finally diagnosed with primary immune deficiency at age 45.
What Does Health Equity Mean?
The moderator and panelists discussed the meaning of health equity, which Bloom described as a system where geography and wealth do not determine one’s quality of life.
“Health care systems around the world are set up for the acute, not chronic,” Bloom said, adding that things are thought of in the short term. However people with rare diseases often have to live with the disease for the rest of their lives and need support, Bloom stressed.
To reach health equity, she said, health care professionals should bear in mind that everyone is different and requires different things. She added that their objective should be early diagnosis and long-term management.
Stalling touched on financial and mental health aspects and said that health equity is a system where “everyone gets the same medicine at the same cost.” She also emphasized the importance of educating medical students on rare diseases early in their training.
“We are not textbook people”, Stalling said. “When I tell my story … hopefully it will change the trajectory of someone’s opinion about how we are”.
She also touched on ageism and how difficult it is to fight for yourself and to be heard and believed without any support.
The Importance of Validation
The panel also discussed the importance of validation and how disbelief and not being taken seriously can harm a person’s quality of life as well as mental health. According to Bloom, this can only be tackled by hearing from the community directly about the barriers they are facing in diagnosis, management, and care.
She also underscored the importance of educating health care professionals on language and how to speak to patients to make them feel believed, understood, and heard.
Solutions to Common Barriers
The session also included a discussion on solutions to barriers faced in the rare disease community.
Stalling talked about Rare Disease Week and the importance of getting involved. “Tell your story, write a letter to the CEO of pharma companies, go to Capitol Hill,” she said, also noting the importance of advocating on behalf of people with a rare disease who have no support.
She said that patients should not shy away from speaking out if a certain treatment is not working for them or from getting a second or third opinion from a medical professional.
“Doctors must explain things [to their patients] in layman’s terms”, Stalling said, and added that, ideally, every major hospital should have a rare disease office where patients can get information.
Bloom talked about racial bias in research and the importance of more representation from minority groups in published research. “Share your story and experience so rare diseases can be diagnosed,” she told attendees.
Stalling also emphasized the importance of trust between the rare disease community and medical professionals.
“There should be community outreach not just for specific treatment but to build trust, build a personal connection,” Stalling said.
The intersection of race, ethnicity, and equity with diagnosis and treatment access. Session presented at: 2021 Living Rare, Living Stronger National Organization for Rare Disorders Patient and Family Forum; June 27, 2021.