There are between 7,000 – 10,000 rare diseases affecting more than 400 million people world wide according to research at the National Institutes of Health. But what precisely classifies a disease as rare, and why is this community a central focus for NAMED Advocates? This month, we explore those critical questions.
In the United States, a rare disease is officially defined as a condition that affects fewer than 200,000 people. While individually uncommon, these conditions collectively impact a significant portion of the population. Examples of these diverse conditions include:
- Cystic Fibrosis, a condition that primarily affects physical and respiratory function.
- Sickle Cell Disease, a blood disorder often highlighted for the funding disparities it faces compared to other rare diseases, which affects physical and systemic function.
- Arnold Chiari Syndrome, a neurological disorder that affects the brain and spinal cord.
A consistent challenge for the rare disease community is the chronic lack of funding and resources dedicated to these conditions. For many, the path to a diagnosis is a frustrating, protracted diagnostic odyssey, often resulting in months or years of uncertainty, numerous specialist visits, and exhaustive testing because initial interactions with primary care physicians may not fully uncover what is occurring. A modern and effective tool in confirming these complex diagnoses is Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS), which can analyze a person’s genetic code to determine the underlying cause of the condition.
NAMED Advocates’ core mission is to champion individuals with disabilities, especially communities of color who are often marginalized in advocacy spaces. While the rare disease community is vastly diverse, it includes many who navigate life with a disability, whether visible or invisible. A partnership with the Chan Zuckerberg Initiative is fueling a new NAMED project dedicated to exploring the language and identity preferences within this community, the Rethinking Language in Science Project.
We believe language is a powerful force that can either empower individuals or create significant barriers to accessible healthcare. This is especially true for those already navigating the healthcare space at the intersections of race, gender, and sexual orientation. In our early research, we have heard that the lived experiences of those with rare diseases are essential, as there is a lack of focus on how these experiences intersect with other identities, such as race, gender, socioeconomic status, or sexual orientation.
We are excited to begin interviewing and recording more of these stories. As an integral part of advocacy, this ensures the voices of those we center are heard and they are seen. As we continue with the “Rethinking Language in Science Project,” which centers language and the voices of those living with rare diseases, we want to ensure we clearly define the communities we are working alongside with.
