By Alex Ababio
KUMASI, Ghana – In Krofrom down Town , a busy, Slum community in Kumasi, a small house hides a quiet battle. Four-year-old Kofi has a smile that could light up the sky, but inside his body, there is a struggle his family cannot name. He has never taken a single step on his own. His joints are stiff. His muscles are weak. His speech is not words but soft, guttural noises that only his mother, Ama Serwah, can understand.
For three long years, Ama and her husband, Afriyie, have walked a desperate journey through Ghana’s health system. People have told them that Kofi is a “spiritual child,” that he is cursed, or simply lazy. Some say maybe he had severe malaria. They have spent everything they have—life savings, money for hospital referrals, visits to traditional healers, and many nights of prayers.
“We have been to every corner,” Ama says, her voice a mix of weariness and courage, cradling Kofi in her lap. “The doctors at Komfo Anokye Teaching Hospital are trying, but they tell me they need tests that are not here. They whisper words I do not understand—‘neurodegenerative,’ ‘metabolic.’ All I know is my son has a name—‘Kofi’—but his sickness does not. How do you fight an enemy you cannot see?”
Kofi is one of Ghana’s hidden children. They are part of a crisis with no headlines. These are children with rare, often genetic diseases that remain undiagnosed. The reason is simple: Ghana does not have basic medical tools many countries do. There is almost no genetic testing in public hospitals. There is no national rare disease registry. That means many families are stuck in what doctors call a “diagnostic odyssey”—a long, painful path of trying and failing to find out what is wrong. This path often leads to losing everything: money, hope, sometimes family
The Diagnostic Desert: A System Struggling to See
In medical terms, a disease is called “rare” when it affects a small number of people. In the United States, for example, a disease is rare if it affects fewer than 200,000 people. But worldwide, there are over 7,000 known rare diseases, and together they affect an estimated 300 million people. Most rare diseases are triggered by genetic changes. (These are facts from the World Health Organization and others.)
What is genetic testing? Think of your body like a giant, detailed instruction book. Genes are the sentences in that book. A genetic test is a tool that lets doctors read those sentences letter by letter to find a typo—a mutation—that might be causing disease. For children like Kofi, that test could be the key that ends the mystery.
But in Ghana, this key is mostly missing in public hospitals.
“We are essentially flying blind,” says Dr. Priscilla Opare-Addo, a Pediatric Neurologist at Komfo Anokye Teaching Hospital (KATH). “I see several children a month with signs that point to rare genetic conditions—development delays, seizures that do not get better with usual medicines, unusual facial or body features. From the outside, I can suspect something, but without genetic confirmation, I can only treat their symptoms—not the cause.”
Sending a single blood sample overseas for full genetic sequencing can cost more than US$1,000. Most families cannot afford this. And public hospitals do not have budgets for it. So what happens is painful: doctors often have to say to parents, “I believe your child is very ill, but I cannot tell you what disease it is. I cannot give you the exact treatment.”
There is another big problem: data. There is no national rare disease registry, which is a database that would record every person with a rare disease. Without it, no one knows how many children like Kofi are in Ghana. That makes it very hard to ask for money, plan for services, or understand where help is needed most.
The Human Cost: A Father’s Quest for an Answer
The story of Kwaku Anokye, a school teacher from Ghana’s Western Region, shows how bad things can get. His daughter, Afia, is now seven years old. When she was four, she began losing her ability to walk. Her speech, once clear, became slurred. Local clinics had many diagnoses: witchcraft, polio, sometimes nothing.
“I sold my car, my family’s cocoa farm plot—everything,” Anokye recalls, his eyes far away. “We travelled to Accra, saw many doctors. One of them said she might have a leukodystrophy—a disease that destroys the brain’s white matter. That word felt like doom, but it was something. Yet to be sure, they said we needed a genetic test. It never happened. We had no money. That was the end of the journey.”
This journey—this grinding, hopeless search—is called a diagnostic odyssey. It affects not just health. Financial ruin often follows. Families borrow. They sell land or possessions. Sometimes marriages break under the stress. And socially, the stigma is real. Some people believe the child is cursed, or the mother did something wrong.
Dr. Nana Yaa Nyarko, a Clinical Psychologist in Kumasi, works with families of children with special needs. She says the emotional cost is huge:
“The ambiguity is a kind of torment. Is it our fault? Could we have prevented this? Will our other children have it? This constant state of unknown grief, without answers, without closure, leads to severe anxiety, depression, and isolation.”
Rare Disease in Ghana: Numbers, Facts, and Urgency
Even though many rare diseases are hidden, some numbers are known:
Ghana has about 18,000 babies born each year with Sickle Cell Disease (SCD), which is about 2% of all live births.
Only about 5.5% of children in Ghana are screened for SCD in the newborn period.
There are about 100 different rare diseases already found in Ghana, though globally over 7,000 are known. Experts believe there are many more unrecorded.
Only about 5% of all rare diseases have approved treatments. Even where treatments exist, many families cannot access them.
Many children with rare diseases die before age five—but because they are not diagnosed, their deaths are often blamed on common illnesses.
These facts show danger: rare diseases are not rare in impact. They are hidden by lack of tools, awareness, and policy.
A Glimmer of Hope: Global Progress, Local Advocacy
While Ghana’s system has big gaps, there is some progress—and a spark of hope.
Rare Disease Ghana Initiative (RDGI) is a nonprofit that has called for comprehensive screening of all newborns within 48 to 72 hours after birth. This would help detect rare genetic, metabolic, and hormonal conditions early.
RDGI has also recorded close to 100 different rare diseases in Ghana so far, although many more probably exist unseen.
The Ghana Health Service’s newborn health strategy (2019–2023) recognizes Sickle Cell Disease as a problem. It aims to include more genetic screening and more facilities. But in practice, newborn screening for SCD is still limited to a few hospitals (like Komfo Anokye Teaching Hospital, Korle-Bu Teaching Hospital, Kumasi South, Tafo, Suntreso and others).
New projects are being launched. For example, community-based SCD clinics, using new rapid tests, allowing detection at birth in local communities, not just big hospitals.
Still, the change is slow. Many children like Kofi still wait, unseen, unnamed.
What Can Families Do While Waiting
Until the systems are fully built, doctors and experts suggest ways families can find help and ease the burden:
1. Keep Detailed Records
Keep a journal of every symptom—when it started, how it changed. Take photos and videos. Even small details matter when doctors try to figure things out.
2. Manage What You Can
Use physiotherapy, occupational therapy, good nutrition. These may not cure the disease, but they can improve comfort, mobility, quality of life. Early therapy often helps children do better.
3. Look for Support Groups
Families often feel alone. Joining other families who are going through similar challenges brings emotional support, shared information, and sometimes help finding resources.
4. Ask Tough Questions to Doctors
Don’t just ask “What is wrong?” but also “What are the possible diagnoses?” “What tests can we do, even abroad?” “What treatments are available now to help with symptoms?” Knowledge can help turn confusion into small victories.
A Mother’s Hope, A Family’s Daily Ritual
Back in Krofrom, in the orange glow of evening, Ama Serwah sits with Kofi, gently moving his stiff arms and legs. She massages them, stretches them—small exercises that hurt, but that are her act of love. It is a ritual she learned from health workers. She hopes. She has not given up.
He cannot walk. He cannot speak. But his parents still believe a name will come. Not just a name of a disease, but a path toward understanding, toward help.
Why Ghana Cannot Wait: Health Equity and the Nation’s Promise
The story of hidden children is not just a pair of tragic lives. It is a test of Ghana’s promise to provide good health care for all, regardless of where they live or how much money they have.
When only 5.5% of newborns are screened for SCD, most affected children are identified too late. Without treatment, many die before age five.
The lack of treatment for rare diseases—95% without approved therapies—makes diagnosis almost cruel: with no remedy, families are left without hope.
When nearly 3 million people in Ghana might be living with one of over 6,000 rare diseases, the scale is massive. These are people hidden in the statistical shadows. Their needs are large, urgent.
The Long Road to a Name: What Must Happen
To begin to change things, Ghana needs to do more than hope. These are steps that can make a difference:
Build a national rare disease registry so every child with a rare disease is counted, tracked, given attention.
Expand genetic testing services in public hospitals to reduce cost and time for families.
Make newborn screening standard for common and rare genetic conditions—not just for Sickle Cell Disease, but for many others.
Train health workers—doctors, nurses, lab technicians—to recognize possible rare conditions, even without definitive tests, and to support families emotionally.
Include rare disease treatment and diagnostics in public health insurance and government health budgets, so families do not pay everything out of pocket.
End: A Journey Toward a Name
As the sun sets in Krofrom, Ama gently holds Kofi in her arms. She whispers his name again. It is the only thing she is sure of. She dreams of the day she will also know the name of his illness—not because she wants him defined by it, but because a name means understanding. It opens doors to treatments. To help. To dignity.
Ghana’s hidden children are waiting—for science to catch up, for policy to catch up, for compassion to catch up.
The Long Road to a Name is long, yes. But for silence, invisibility, stigma—this journey matters. For Kofi. For Afia. For millions who have not yet been seen. The history of every sick child is in our hands. Ghana—this is your moment to walk the road, to name the unnamed, and to care.