With Rare Disease Day coming up on February 28th, one of the leading organizations dedicated to serving affected patients in the US, the National Organization for Rare Disorders (NORD), is making a push to put the spotlight on the limited access to diagnosis, treatment and care suffered by rare disease patients. PharmaBoardroom spoke to Pamela K. Gavin, NORD’s Chief Strategy Officer, to get her insights into the importance of ‘health equity’ and how NORD is working to achieve it for rare disease patients.
There is no single, widely accepted definition of rare diseases. In the United States, they are defined as diseases that affect fewer than 200,000 people; in the European Union, a rare disease is one that affects fewer than one in 2,000 people.
According to the United States National Institutes of Health (NIH), there are many different causes of rare diseases: “the majority are thought to be genetic, directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed.”
Some estimates indicate that there are around 7,000 rare diseases. The NIH estimates that there are between 25-30 million Americans living with at least one, about one in ten people, and the European Organization for Rare Diseases (EURORDIS) believes that as much as six to eight percent of their population is affected by one.
Advocating for policies that ensure access to affordable, quality healthcare coverage is a critical component to addressing some of the barriers that vulnerable and underserved populations, including our rare community, often face
Pamela K Gavin, NORD
Can you explain what health equity is and why it is important?
Pamela Gavin (PG): In a nutshell, health equity means that everyone has a fighting chance to live their healthiest life because they have equal access to the medical expertise, treatment and support services necessary to do so. True equity requires us to first address societal disparities that are hurdles to health, which include discrimination and poverty.
Why is health equity critical to the rare disease community?
PG: Rare disease patients in the United States and worldwide have long been affected by health equity, mainly because of the challenges that come with having a condition that affects few people and one the medical community knows little about. People living with rare diseases often have limited access to diagnosis, treatment and care. The obstacles that come with social disparities only magnify these issues for those impacted by rare diseases.
What are some of the steps that are necessary on the road to health equity for all?
PG: Advocating for policies that ensure access to affordable, quality healthcare coverage is a critical component to addressing some of the barriers that vulnerable and underserved populations, including our rare community, often face. Increasing participation by underrepresented populations in clinical trials and research is vital to a better understanding of diseases, as well as to expanding access to treatments and improving quality of life for patients. These are necessary steps on the road to health equity for all, including more than 25 million American men, women and children living with one of over 7,000 currently identified rare diseases, as well as those still without a diagnosis.
How is NORD working to achieve health equity in healthcare?
PG: NORD is working to help achieve health equity in a number of ways. The organization continues to convene meaningful conversations around diversity, equity and inclusion for our members and the community-at-large, and to use opportunities like Rare Disease Day to elevate the discussions. During this special Rare Disease Day event, two patient organization leaders, a medical professional and a medical student will discuss current initiatives and possible approaches to advancing health equity. On February 19, NORD hosted “Diversity, Equity and Inclusion in Action: Case Studies from NORD’s Rare Cancer Coalition,” a webinar in which rare leaders addressed representation in rare disease research, as well as how to ensure accessibility and reach groups that may be disconnected from resources and support.
NORD advocates for policies that protect Medicaid and ensure it can remain a critical safety net for vulnerable populations. At the federal level, we work to secure increased funding to ensure states can meet increased enrollment during the economic downturn resulting from COVID-19 and during the ensuing recovery. At the state level, we fight against cuts to state Medicaid budgets or enhanced utilization management processes to ensure patient access to the providers, treatments and services which are necessary to reducing health disparities and improving health outcomes.
Project RDAC is a NORD initiative supporting the development and fostering of Rare Disease Advisory Councils (RDACs), advisory bodies that give rare disease patients and advocates a voice with state lawmakers. Diverse representation is critical to the success of Rare Disease Advisory Councils, and NORD modified its model RDAC legislation this year to recommend that an official from a state’s Office of Minority Health be included as a member on the RDAC, and that RDAC meetings are allowed to be held via teleconference to allow those who don’t live near a state capital or may have other access issues to participate.
Finally, for the past year, NORD has been working to help the rare disease community safely navigate the COVID-19 pandemic and to ensure telehealth is available across economic, cultural and racial barriers. Patients and caregivers have joined us to advocate for expanded access to telehealth, and hundreds have told us about its positive effects during this time. Together with a coalition of patient organizations we developed telehealth principles to guide policymakers, to help ensure that millions of people with pre-existing and chronic conditions can safely and equally access appropriate telehealth services going forward.
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