Rare diseases: The patients Ghana’s health system was not built for (Edited)

At a district hospital in Ghana, a mother watches her child grow weaker with each visit. Test results come back “normal.” Doctors change prescriptions. Family members whisper spiritual explanations. Months turn into years, and the illness still has no name. This is not a medical mystery. It is the lived reality of many families living with rare diseases in Ghana.

As February draws near, the world would observe ‘Rare Disease Day’. It is a reminder that “rare” does not mean insignificant.  The Rare Disease Ghana Initiative reports that rare diseases affect over 300 million people globally, representing approximately 4% of the world’s population, including an estimated two million Ghanaians. About 80% of rare diseases have a genetic cause, and nearly 70% present in childhood. These diseases disproportionately affect children, accounting for 35% of infant deaths and 30% of deaths in children under five. Yet despite their impact, about 95% of rare diseases lack approved treatments, leaving many patients with limited options and delayed care.

Rare diseases in Ghana

In Ghana, rare diseases are not foreign problems. They exist in homes, schools, workplaces, and communities, even if they are rarely named.

According to the Ghana Institute of Clinical Genetics, approximately 15,000 babies are born with sickle cell disease each year, about 2% of all newborns. The Institute has registered over 25,000 sickle cell patients at its clinic alone.

But sickle cell disease is not the only rare condition affecting Ghanaians. The Hemophilia Society of Ghana estimates that approximately 7,131 people are living with hemophilia in the country, yet only 525 cases have been diagnosed. That represents a diagnosis gap of about 93%.

Other conditions, such as lupus, muscular dystrophy, genetic developmental disorders, and albinism related health complications, also affect Ghanaians, yet many remain underdiagnosed, misunderstood, and stigmatized.

For families, the hardest part is often not only the illness itself, but the uncertainty. Globally, patients with rare diseases wait an average of nearly five years for an accurate diagnosis. In African settings, this diagnostic journey can take even longer due to limited resources and infrastructure. In rare disease awareness conversations, caregivers frequently describe this frustrating process. One caregiver put it simply: “We kept going to the hospital, but nobody could tell us what it was. People started saying it was spiritual. I felt helpless.”

These experiences point to a deeper systemic problem. Rare diseases are often genetic, chronic, and complex. They require specialized knowledge, early diagnosis, and coordinated care. Yet Ghana’s health infrastructure is structured mainly around common infectious diseases and the growing burden of non-communicable diseases such as hypertension and diabetes.

While this focus is understandable, it has created a blind spot for conditions that fall outside standard diagnostic pathways. Limited specialist support, shortages of essential equipment, and weak referral systems mean that many patients remain undiagnosed or misdiagnosed for years. The result is a cycle of misdiagnosis, delayed treatment, and emotional exhaustion. Patients are labelled “difficult.” Parents are accused of exaggeration. Some families are pushed toward spiritual explanations when medicine offers no clear answers. Others spend their life savings moving from one facility to another, searching for clarity that never comes.

National Health Insurance offers little help

According to the Hemophilia Society of Ghana, women and girls with bleeding disorders are particularly affected because symptoms such as heavy menstrual bleeding or excessive bleeding during childbirth are often dismissed as normal, rather than investigated as possible signs of an underlying condition. For many families, the National Health Insurance Scheme provides little relief because specialized tests, genetic diagnostics, therapies, and long-term management are often not covered.

This is not a failure of individual health workers. It is a systemic failure. Medical professionals can only diagnose what they are trained to recognize and what the system enables them to investigate. Without strong data systems, clear referral pathways, and specialist support, even the most dedicated clinicians are constrained. While specialized expertise exists, including at the Ghana Institute of Clinical Genetics and within teaching hospitals, access remains limited for many patients, particularly those outside major urban centers. When a health system lacks the tools to identify rare diseases early, patients fall through the cracks, not because they do not matter, but because the system is not built to find them.

Social cost of rare diseases

The social cost of this neglect is profound. Children miss school repeatedly due to illness, fatigue, stigma, or long hospital visits. Parents reduce working hours or leave jobs entirely to become full-time caregivers. Families experience isolation and emotional strain. Mental health deteriorates under the weight of uncertainty and financial pressure. When illness has no name, suffering is often dismissed, and the person living with the condition may be treated as invisible.

A health system should be judged not only by how efficiently it treats common conditions, but also by how compassionately it responds to those who are hardest to diagnose. Rare diseases test the limits of equity. They force an uncomfortable question: do we value citizens only when their needs are convenient?

Ghana can do better

Ghana can do better, but it will require deliberate action. The Rare Disease Ghana Initiative, which has observed ‘Rare Disease Day’ in Ghana since 2018, has advocated for systemic changes in partnership with the Ministry of Health and stakeholder organizations. These include the Hemophilia Society of Ghana, the Ghana Association of Persons with Albinism, the Scoliosis Foundation Ghana, and the Pediatric Society of Ghana.

Their calls are clear. Ghana must establish a national rare disease registry to systematically document cases. Newborn screening programmes must be expanded beyond pilot projects. Referral networks linking district hospitals to specialized centers must be strengthened. Rare disease training should be integrated into medical and nursing education. The National Health Insurance Scheme should expand coverage to include genetic testing and long-term management.

Public education is equally critical. Stigma remains one of the biggest barriers to care. Communities must understand that rare diseases are not curses, punishments, or evidence of family wrongdoing. They are health conditions that require medical support, patience, and compassion. The language that is used matters. The assumptions that are made matter. When people are mocked, blamed, or isolated because their illness is uncommon, it deepens the suffering that already exists.

Most importantly, families living with rare diseases should be included in policy conversations, not left to navigate the system alone. Visibility is not enough if it does not lead to care. Awareness is not enough if it does not lead to support. Rare disease patients do not need pity. They need systems that work.

On ‘Rare Disease Day’, patients deserve special treatment. The deserve to be treated with dignity, inclusion, and a health system that does not abandon people because their illness is uncommon. With more than two million Ghanaians potentially affected, this is not a marginal issue. Rare does not mean invisible, and in a just society, it never should.

By Priscilla A. Boateng