For people with rare diseases, living in a high- or low-income country shapes their experience, but all can face stigma, isolation, and neglect. Tackling the social and emotional impacts is crucial for better support.
Across Asia, a rare disease diagnosis often carries an additional burden of stigma. Photo: Nicola Barts
Expert clinicians and specialised therapies for people living with rare diseases are few and far between. This is partly because while there are more than 10,000 individual conditions, patient numbers are very low globally. Wherever they live, people with rare diseases are often neglected and marginalised.
In high-income countries, people struggle to get diagnosed, despite the rise in genetic testing; effective treatments are also difficult to find. In low- and middle-income countries (LMICs), where around 85% of the global population lives, a diagnosis can carry a different burden—the burden of lifelong stigma for people with rare diseases and their families, whom society may perceive as cursed.
Given the challenges in diagnosing rare diseases and accessing specialised treatments, it is crucial to support people living with rare diseases in managing the broader impacts, including those that are psychological, social, and financial.
A tale of two rare disease realities
The psychosocial impacts of living with a rare disease differ sharply between high-income countries and LMICs. High-income countries are largely focused on speeding up accurate diagnoses to facilitate access to sickness and disability benefits, while in LMICs, stigma and societal exclusion are the primary barriers to care. This is especially challenging for the families of children—and about 70% of rare diseases begin in childhood.
“It’s like chalk and cheese,” says Dr Ritu Jain, associate chair at the School of Humanities at Nanyang University in Singapore.
“Genetic tests, where available [in LMICs], are usually shunned by those who can afford them for fear of the social ostracisation that would ensue. Often, families [of people with rare diseases] are believed to be cursed, and are required to perform compensatory gestures such as offering larger dowries for a girl child.”
Dr Jain is also president at DEBRA International, a patient organisation for people living with epidermolysis bullosa (EB). EB is a rare disease that causes the skin to be extremely fragile and blister easily. Motivated by her daughter’s diagnosis of EB, Jain has created patient support groups and informal registries for people with the disease in Asian countries, including Pakistan and India, to provide information and combat feelings of isolation. She explains that social and economic factors often lead families to adopt a fatalistic mindset: “They accept the child has just drawn the short straw and leave the future to fate rather than medicine,” she says.
“When parents contact me from Pakistan, for example, building an informal support group is all I can do, despite the dreadful suffering of these children.”
Jain also points out that across Asia, diagnosis is frequently avoided for fear that a formal disease identification may lead to the loss of, or failure to secure, health insurance where it is available. This is the case even for health conditions unrelated to congenital disorders, which are usually excluded from public and private health insurance coverage.
For those willing to embark on the diagnostic odyssey—where people and their families spend years seeking an accurate diagnosis for conditions that are not well understood or recognised—the lack of local expertise and care often exacerbates the situation.
“Even if parents [in LMICs] accept genetic testing, availability and affordability are rare. Regional healthcare systems and services are rarely resourced enough to fund these tests as well as subsequent therapies, if they exist. The tests are unaffordable to the average patient and family,” Jain says.
“Local doctors may prescribe long term antibiotics and steroids [for EB], but these often lead to other complications,” Jain explains. “When parents contact me from Pakistan, for example, building an informal support group is all I can do, despite the dreadful suffering of these children.”
Traversing the diagnostic odyssey
Many of the decisions made in modern medicine are based on evidence derived from large databases—like electronic health records, patient registries, and clinical trial data—representing metrics from hundreds of thousands of patient cases. Patterns identified indicate which risk factors, diagnostic criteria, and treatments are most likely to provide the optimal outcomes for different patients and populations.
But with rare diseases—conditions generally acknowledged to affect fewer than one in 2,000 people—there are not enough cases to build adequate data sets. People living with rare diseases are left behind in a world that is soaring ahead with big data and big technology. With numbers so small, diagnosis and care often relies on anecdotal experience, trial and error, and even intuition.
Such is the difficulty that an estimated 30% of children with rare diseases die before reaching their fifth birthday. For those who obtain a diagnosis, the process can be lengthy and traumatic, regardless of where they live.
“People are gaslit when they talk about symptoms and sometimes told it’s only stress, even after presenting a dossier of symptoms [that have occurred] for years.”
Ilona Cains, from Amersham in the UK, remembers how her 10-year-old daughter—who was experiencing severe unexplained pain and reduced mobility in her hip—received a dismissive consultation with a doctor. She says the interaction epitomises the lack of compassion and understanding so often experienced by people with rare diseases.
“We were the last patient of the day before he left for holiday,” Cains says. “My daughter was sitting beside me and he totally dismissed her presence. He said, ‘She has Perthes disease [a childhood condition caused by temporary disruption to blood supply to the thighbone], meaning the hip bone dies. She won't be able to walk for about four years; we’ll get her some crutches’.
“As we walked out to the car, my daughter turned to me and said, ‘Mummy, does that mean I won’t be able to walk until I’m a teenager?’.”
Raquel Castro, social policy and initiatives director at the European Organisation for Rare Diseases (EURORDIS), says not being taken seriously is a common problem during medical appointments. Misdiagnoses are also common.
“People are gaslit when they talk about symptoms and sometimes told it’s only stress, even after presenting a dossier of symptoms [that have occurred] for years,” Castro says, adding that there is a gender divide in time to diagnosis. “Women take an average of 5.4 years to be diagnosed, whereas men take 3.7 years. It’s unacceptable.”
Rare cancer and social isolation
Like other rare diseases, rare cancers often suffer from a lack of awareness, limited treatment options, and little commercial interest for research and development.
“People almost carry a guilt for not having a more mainstream disease that affects millions [of people],” says Dr Juan-Jose Ventura, research and patient engagement director at Cancer Patients Europe, an organisation that works with healthcare providers and policymakers to support patients and survivors.
He highlights one such rare and aggressive blood cancer that typifies the situation, and for which Cancer Patients Europe ran a public campaign: blastic plasmacytoid dendritic cell neoplasm (BPDCN), which presents as skin lesions but often goes under- and misdiagnosed due to lack of knowledge. Around 10–20% of people with BPDCN are diagnosed with a skin or other cancer first, and as a result of late or misdiagnosis many people experience poor outcomes.
“Their disease then affects their finances, which then impacts other parts of their life, including standard of living and social wellbeing.”
BPDCN is often not perceived as a ‘real’ cancer, explains Ventura, who points out that even though disease-specific markers have been identified for the condition, globally there are too few specialist clinicians and no dedicated patient organisation to effectively care for these people.
Without widescale recognition, resources for research are not allocated and the downward spiral continues. People, who often go undiagnosed for long periods, not only suffer physically but also experience significant emotional and social isolation.
People living with rare diseases often experience emotional and social isolation. Photo: Dimitri Dim
“They don’t even have the opportunity to share their experience with others—their fears, their everyday difficulties, or even the possible solutions,” Ventura stresses.
People living with rare diseases, including those with BPDCN, often struggle to hold down a job and are also ineligible to receive state welfare support in countries where it is available. “Their disease then affects their finances, which then impacts other parts of their life, including standard of living and social wellbeing,” Ventura explains. “People feel isolated, like they are fighting against the world.”
Tallying the cost of rare diseases
The true burden of rare diseases for those living with the conditions, their carers, and society at large is difficult to gauge. A large study by the Everylife Foundation for Rare Diseases in the US estimated the economic burden of 379 rare diseases at close to $1 trillion in 2019. About 43% of this was made up of direct medical costs like hospitalisations, diagnostics, and long-term care; and about 45% consisted of indirect costs such as lost productivity, absenteeism, informal caregiving, and premature deaths. The remaining 12% is attributed to non-medical costs.
Julien Delaye, patient engagement manager, Health Technology Assessment (HTA) at EURORDIS, welcomes the study but believes an essential component has not been examined. HTA summarises the medical, economic, social, and ethical issues that may arise from the use of medicines and medical equipment, and it guides how these technologies can be used in health systems around the world.
“The intangible costs, such as pain, distress, and psychological impact, are still missing. These aspects are less salient than others when investigating the burden of disease in general,” Delaye says.
In January, new EU rules on HTA were introduced, which Delaye hopes will highlight the importance of rare disease lived experiences and quality of life that are often overlooked.
Delaye explains that previously the HTA procedures across the EU were cumbersome and slow, often due to insufficient data. “This meant patient access to new medications was delayed,” he says.
Now, the recently launched new Regulation on Health Technology Assessment should help to ensure that innovative and effective health technologies are available to people across the EU—including those with rare diseases.
“Hopefully, this means patients have faster access to much-needed technologies through a common EU procedure based on transparency, common information, and assessments shared between member states,” Delaye says. He adds that the new regulations may increase the weight given to the patient voice and experiences at the European level.
Changes like these can set a crucial precedent for LMICs, helping to reduce stigma, lessen social isolation, and improve quality of life for people living with rare diseases.
“It’s about gathering meaningful data and insights from patients on their care and experience with a disease, including on the emotional and psychosocial impacts,” concludes Delaye.
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