By Alex Ababio
For thousands of families across Ghana, the struggle with rare diseases is not just a medical issue—it is a daily battle against poverty, stigma, and a health system still struggling to recognize their existence.
Globally, rare diseases affect hundreds of millions of people, yet most remain poorly understood and underfunded. According to international health research, more than 7,000 rare diseases have been identified worldwide, collectively affecting over 300 million people—roughly 3.5–5.9% of the global population.
Despite this significant burden, patients in many developing countries—including Ghana—often face delayed diagnosis, lack of treatment, and overwhelming financial costs.
In an exclusive interview with Ghanaian Watch, Mr. Samuel Adjei Wiafi, Executive Director of the Rare Diseases Ghana Initiative (RDGI), sheds light on the structural gaps, policy failures, and human stories behind rare diseases in Ghana.
A Silent Health Crisis
Rare diseases are typically defined as conditions affecting fewer than 1 in 2,000 people, according to global health frameworks.
Individually rare, these diseases collectively represent a major public health issue.
Yet in Ghana, they remain largely invisible.
“In the research unit sample size and for many rare diseases the sample is too small,” Mr. Wiafi explains. “Especially individual diseases, they do not really attract research interest or something to study because you will not get your numbers to proceed with your research study.”
This lack of research creates a dangerous cycle: because rare diseases affect small numbers of people individually, they receive little research attention. Without research, diagnosis and treatment remain limited.
But behind these statistics are real people whose daily lives are shaped by conditions that many health professionals barely recognize.
“For us the reality is that some people’s everyday struggle is their life. It’s what they go through on a daily basis,” Wiafi says. “They have hopes and aspirations like everybody else but these conditions are limiting that they are not able to achieve what they want.”
When Illness Takes Away Livelihood
For many patients living with rare diseases in Ghana, the consequences go far beyond health complications.
“They cannot participate like everybody else. They cannot work. They cannot do anything,” Wiafi notes.
The cost of treatment compounds the problem.
“And the cost of care is very expensive. They have to see all of the major specialists that you have in the system. Specialist care is not cheap.”
Unlike common illnesses covered by Ghana’s national health system, many rare disease treatments require consultations with multiple specialists—neurologists, geneticists, cardiologists, physiotherapists, and other experts.
Yet most of these services are not adequately covered by insurance.
“Most of them are not insured. And so they have to pay out of pocket,” Wiafi explains.
The financial burden is devastating.
“Imagine you cannot really work because you’re almost always in the hospital, but you have to pay the highest part of the cost. And so it is not a balanced system at all.”
The Diagnostic Gap
One of the biggest barriers facing rare disease patients in Ghana is the lack of diagnostic infrastructure.
“Three system problems are holding back rare disease care in Ghana,” Wiafi says. “For instance, lack of diagnostic infrastructure, no clear policy, national health insurance gaps, and stigma.”
Diagnosis for many rare conditions requires advanced genetic testing—technology that remains limited or expensive in many parts of Africa.
To address this gap, the Rare Diseases Ghana Initiative launched a Diagnostic Access Program, partnering with laboratories and philanthropic organizations to support families.
“We run a philanthropic program that helps families suspected for rare diseases to get access to diagnosis,” Wiafi explains.
The initiative covers the cost of genetic testing for families.
“So far we have been able to support close to 400 families.”
But the costs are staggering.
“These tests are not cheap,” he says. “When I talk about 400 families, if you multiply by almost $10,000, you can imagine the amount of investment that has gone into helping families just to get a diagnosis.”
Yet even this effort barely scratches the surface of the need.
“It is still woefully inadequate.”
When Families Fall Into Poverty
For families already struggling economically, rare diseases can push them toward financial collapse.
“To get a diagnosis alone may cost close to $10,000 per family,” Wiafi says.
That figure does not include hospital visits, surgeries, scans, or medication.
“To confirm a condition you may need MRI scans, CT scans, lab investigations, enzyme tests and many other investigations.”
Even after diagnosis, treatment costs remain overwhelming.
“This is care that you still need, but it’s not medication,” Wiafi explains. “It may be a device you need to procure. You may undergo a certain type of surgery.”
For instance, children with Down syndrome often suffer from congenital heart defects requiring expensive heart surgery.
“Many of them come with congenital heart problems and have to go for heart surgeries,” he says.
Similarly, cochlear implants for children with hearing impairment can cost thousands of dollars.
“To fix a cochlear implant is not cheap.”
These expenses are rarely covered by insurance.
“They are very expensive and families have to raise money out of pocket.”
Over time, many families descend into poverty.
“The moment they have a child with a rare disease, it starts moving them towards the poverty line,” Wiafi observes. “As time goes on, you realize they are just going down.”
Stigma and Social Isolation
Beyond medical and financial challenges, stigma remains a powerful barrier.
“I think the biggest issue has to do with stigma,” Wiafi says.
In Ghana’s conservative social environment, visible rare diseases can expose patients to ridicule and discrimination.
Take the example of neurofibromatosis, a genetic disorder that can cause large tumors to grow on the face.
“If somebody has a tumor in the face that has covered almost the entire face and changed the look of the person,” Wiafi says, “would they be able to live their lives?”
He raises difficult questions.
“Would they be allowed to work in a company? Can they go to school without people laughing at them?”
Such experiences often force families into silence.
“Families are still hiding because of stigma.”
RDGI is therefore focusing on awareness campaigns.
“For this year’s Rare Disease Day, we focused a lot on media awareness,” Wiafi explains.
The organization also plans regional outreach programs to encourage families to come forward.
Misdiagnosis and Exploitation
Another troubling issue is misdiagnosis.
Because many doctors are unfamiliar with rare diseases, patients may spend years seeking answers.
“I had earlier mentioned hemophilia,” Wiafi says. “Many health professionals don’t even know it’s a condition or how to manage it.”
Hemophilia is a bleeding disorder where blood fails to clot properly.
“We have seen varying types of them here in Ghana,” he adds.
Other rare conditions, including spinal muscular atrophy, are also increasingly identified in the country.
But without accurate diagnosis, families often turn to alternative health systems.
“In our setting we also have herbal and spiritual healthcare,” Wiafi notes.
When conventional medicine fails to provide answers, desperate families seek help elsewhere.
“During those times they get abused. They get exploited. People take money and give them false hope.”
The Insurance Gap
Ghana’s National Health Insurance Scheme (NHIS) currently provides limited coverage for rare diseases.
“Insurance mostly pays for hospital appointments,” Wiafi explains.
But the specialized tests, medications, and devices required for rare disease treatment are often excluded.
A key issue lies in medical coding systems used by insurance providers.
“If the condition does not have codes, it means the insurance will not reimburse for diagnosis,” he says.
Global classification systems such as ICD-11 now include many rare diseases, but Ghana has yet to fully integrate them into reimbursement systems.
This creates a major policy gap.
Toward a National Rare Disease Policy
Despite these challenges, efforts are underway to change the landscape.
Last year, RDGI partnered with Ghana’s Ministry of Health to organize a national forum on rare diseases.
“We also engaged stakeholders to work with us to develop a national policy or plan for rare diseases,” Wiafi says.
Such a policy could position Ghana as a regional leader.
“It could set Ghana as one of the first African countries to have a comprehensive plan for rare diseases, possibly within the ECOWAS region.”
Advocates hope the plan will integrate rare diseases into the country’s disability and social protection frameworks.
They are also pushing for expanded insurance coverage, including:
genetic testing
specialized therapies
assistive devices
orphan drugs for rare diseases
mental health and support services for affected families
The Future: Research and Genomics
Experts say Africa’s genetic diversity offers enormous opportunities for scientific discovery.
“There is a lot of genomic diversity within African genomes,” Wiafi notes.
Yet African populations remain underrepresented in global genetic research.
This gap has serious implications for diagnosis and treatment.
International researchers increasingly recognize that expanding genomic studies in Africa could accelerate breakthroughs in rare disease medicine.
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A Call for Urgent Action
For families living with rare diseases in Ghana, time is critical.
Many patients remain undiagnosed, untreated, and unsupported.
But advocates say solutions exist: stronger policy frameworks, improved diagnostics, expanded insurance coverage, and sustained public awareness.
“We need to start engaging,” Wiafi insists. “We need to start the discussions.”
Because for the families facing these conditions every day, rare diseases are not rare at all.
They are life.