The stigma surrounding rare diseases is a global problem that demands greater attention.
Over 300 million people worldwide are living with a rare disease. There are over 7,000 conditions considered rare, and 85% of these are considered extremely rare, affecting fewer than one in a million people. Despite the diversity of these conditions, persons living with rare diseases (PLWRD) face common challenges. Rare Diseases International (RDI), the global alliance of rare disease organizations, seeks to address these challenges through collective advocacy on behalf of its more than 120 member organizations in 50 countries. One persistent, but often overlooked, challenge is the stigma faced by persons living with rare diseases around the world.
The stigma experienced by people living with a rare disease can take many different forms. Limited access to education and employment is a common challenge across the world. Children often face ostracism or exclusion in school due to a rare condition. This stigma can affect not only individuals with a rare disease but also their families. RDI member organizations in Africa report that the fear of stigma sometimes deters parents of children with rare conditions from accessing treatment. In some regions of Asia, a rare condition can be a barrier to marriage.
The Malaysian Rare Disorders Society (MRDS) has identified internalized stigma as an additional challenge for its members, with PLWRD and parents of children with rare diseases internalizing feelings of shame and guilt which in turn impact their mental health and well-being. This observation was echoed by Professor Felix Galarza Delgado of Ecuador, who lives with muscular dystrophy and had to overcome feelings of shame connected to using a wheelchair as a young adult.
“The real challenge is not in the disease, but in breaking down the barriers we build for ourselves,” Galarza Delgado says.
Destigmatizing language
The language used to describe rare conditions can have a significant impact on the people who live with them. For example, at the time of its discovery, the gene involved in Fragile X syndrome (FXS) was named “Fragile X Mental Retardation-1”. While the term “mental retardation” was commonly used to describe neurodiversity at the time, it has become outdated and offensive and can evoke negative emotions for families and individuals living with FXS, as well as potentially causing harmful assumptions from others.
In 2022, thanks to the powerful advocacy of Fragile X International, the gene was renamed “Fragile X Messenger Ribonucleoprotein 1,” a change that was celebrated by the global FXS community. As one young person commented, “It gives me a dimension of possibility by communicating to everyone that no one can describe me without having met me.”
The stigma of invisible and undiagnosed conditions
It takes an average of five years to diagnose a rare condition in the United States, and while waiting for a diagnosis, individuals can feel that their symptoms are not taken seriously by medical professionals or the wider community. For millions of individuals around the world, a diagnosis is never found. Living with an undiagnosed condition can lead to profound social isolation, anxiety, and depression, exacerbated by the stigma of being labeled a hypochondriac or, even worse, being accused by healthcare providers of deliberately causing harm to their child.
According to Helene Cederroth, chairperson of Wilhelm Foundation, Sweden, “Living with an undiagnosed disease carries a significant emotional burden. Without a diagnosis, healthcare providers cannot determine the cause of the disease and, therefore, cannot provide adequate treatment, which could lead to irreversible consequences and in the worst case, even be life-threatening. Persons Living with an Undiagnosed Disease (PLWUD) and their families are left in the dark about how to get effective care, an accurate prognosis, and the disease’s heredity. Families are often mistrusted by society, healthcare providers, friends, and relatives. This fosters deep stigma, leaving PLWUD frequently excluded — an injustice that goes against the principles of the UN’s Agenda 2030.”
Reducing stigma around rare diseases
To reduce stigma, education is key. In 2024, MRDS launched a campaign to combat stigma through the message “Don’t just stare, say hello.” Rare Disease Day is also an opportunity to spread awareness at the local and national levels through the Light Up for Rare campaign and toolkits for schools. In the United States, the National Organization for Rare Diseases (NORD) provides free resources for educators.
Global advocacy also plays an important role in reducing stigma. A coalition of rare disease organizations around the world, including RDI, is currently advocating for a WHA Resolution calling for a Global Action Plan on Rare Diseases. A Global Action Plan would help increase awareness of rare diseases through education at all levels and facilitate inclusion in schools, workplaces, and all other areas of society.
As Professor Galarza Delgado comments, “It is not the disease that defines me, but the way I choose to live with it.” By working together, we can ensure that PLWRD are not defined by their conditions and have equitable access to the opportunities they choose to pursue.
