Rare Disease Day was created to give voice to people living with conditions that are often overlooked, underfunded, and diagnosed too late. But for many Black families, what medicine labels “rare” does not feel rare at all.

As Rare Disease Day coincides with Black History Month, we are confronted with an uncomfortable but rather urgent truth: when rare diseases disproportionately affect Black communities, invisibility becomes a form of inequity.

Consider transthyretin amyloid cardiomyopathy, also known as ATTR-CM, a progressive and potentially fatal heart condition caused by the buildup of misfolded transthyretin proteins in the heart. Symptoms often resemble common heart failure—fatigue, shortness of breath, swelling—leading to frequent misdiagnosis or delayed recognition.

A hereditary form of ATTR-CM is particularly relevant to Black Americans. An estimated 3–4% of Black individuals carry a genetic variant associated with hereditary ATTR-CM. Yet awareness remains strikingly low, and many patients are diagnosed only after years of unexplained symptoms.

ATTR-CM isn’t the alone rare disease that disproportionately affects Black individuals. Sickle cell disease affects Black Americans and has historically received far less federal research funding per patient than other genetic conditions. Sarcoidosis, an inflammatory disease that can affect the lungs and other organs, occurs more frequently and often more severely in Black individuals. APOL1-mediated kidney disease, driven by variants of the APOL1 gene found almost exclusively in people of African ancestry, significantly increases the risk of chronic kidney disease and kidney failure.

These are labeled “rare diseases.” But collectively, they represent a pattern. When diseases that disproportionately affect Black communities are underdiagnosed, underfunded, and underprioritized, it reflects more than scientific complexity. It reflects structural neglect. It reflects a research and healthcare system that has too often treated Black health disparities as inevitable rather than actionable.

Black History Month celebrates trailblazers who forced this nation to confront injustice in education, voting rights, housing, and medicine. Rare Disease Day should push us to confront injustice in biomedical research and specialty care.

The consequences of delay are not abstract. Delayed diagnosis of ATTR-CM can mean irreversible heart damage. Undetected APOL1 risk can mean preventable kidney failure. Underinvestment in sickle cell research can mean shortened life expectancy. Mismanaged sarcoidosis can mean chronic organ damage.

But there is another path forward. We now have treatments that can slow progression in ATTR-CM. We have gene therapies emerging for sickle cell disease. We have expanding knowledge of APOL1-associated risk. We have advanced imaging and diagnostics capable of identifying sarcoidosis earlier. Science is moving.

Policy has got to catch up. If Rare Disease Day is to be more than symbolism, we need:

1. Sustained NIH Investment in Diseases That Disproportionately Affect Black Communities
   Federal research funding must align with disease burden and severity — not historical precedent. Equity in NIH allocation is not preferential treatment; it is corrective justice.
2. Expanded CMS Coverage and Reimbursement for Early Screening and Genetic Testing
   Medicare and Medicaid should support coverage for evidence-based genetic screening and diagnostic imaging when risk factors are present. Early detection reduces long-term costs and improves survival.
3. National Genetic Awareness Campaigns
   Public health agencies must invest in culturally responsive education about hereditary risk factors—including TTR variants and APOL1 risk alleles—in partnership with trusted community organizations.
4. Provider Training and Clinical Guidelines That Reflect Population Risk
   Medical education must equip clinicians to recognize conditions that may present differently—or more frequently —in Black patients. Diagnostic bias costs lives.
5. Data Transparency and Accountability
   We cannot fix what we do not measure. Disaggregated data on diagnosis rates, time to treatment, and outcomes must guide interventions.

Rare Disease Day is about visibility. Black History Month is about justice. Together, they demand something larger: structural change. For too long, “rare” has functioned as a quiet qualifier—a way to signal limited urgency. But when multiple rare diseases cluster within one community, they stop being rare in lived reality. They become a public health priority hiding in plain sight.

On this Rare Disease Day, let us commit to ensuring that rare does not mean unseen, underfunded, or dismissed. Let us align research dollars with equity. Let us modernize screening policies. Let us equip clinicians with the tools to diagnose earlier and treat smarter.

For free resources on ATTR-CM, visit AskAboutATTR.org.