Born different: The silent crisis of birth defects, stigma and toll

At exactly 10am, a baby girl is born in Busali, Vihiga County. Instead of joyous celebration, a heavy silence descends upon the delivery room.

The newborn has no fully formed hands. Word of the unusual birth spreads rapidly through the close-knit community. Within hours, curious residents begin flocking to the hospital, eager to catch a glimpse of the baby.

Rather than sympathy, blame quickly shifts to the mother. She is stigmatised, labelled an outcast, and the baby’s condition is whispered about as a “curse” that has befallen the family. Before she can even cradle her daughter, relatives are already discussing sending her back to her parental home. In their eyes, the child represents a bad omen for the family she married into.

“This is not normal. How do you explain a baby without hands if not a curse?” one relative confronts the distressed mother. It takes the firm intervention of a compassionate nurse to calm the situation.

She counsels the family, explaining that the condition is a recognised medical issue seen in many newborns worldwide, and urges them to allow the baby to remain in hospital for proper monitoring and care. In the adjacent bed lies another mother gently wrapping her newborn — a baby boy born with an unusually small head, a condition known as microcephaly.

Doctors link it to infections the mother may have contracted during pregnancy, which interfered with the baby’s brain development. Two newborns. Two different birth defects. Yet both families grapple with the same emotions: shock, uncertainty, fear, and an urgent need for early medical intervention.

Across Kenya, such heartbreaking scenes unfold far more frequently than is publicly acknowledged. Each year, thousands of babies are born with congenital birth defects — conditions that develop while the baby is still in the womb. Some are visible immediately at birth, while others remain hidden until complications emerge later in life.

Dr Dorcas Supa Tunje, a paediatric neurologist, defines birth defects as conditions a child is born with, having developed during foetal growth in the uterus.

“At the time of birth, the condition already exists,” she explains. “Unlike illnesses acquired after birth, these defects can affect any part of the body or any organ system.”

“As the foetus grows, abnormalities may occur, either through failure of a body part to form properly or through abnormal development that prevents normal function,” Dr Tunje adds.

According to available data, congenital defects rank as the fourth leading cause of newborn deaths in Kenya, following prematurity, birth asphyxia, and infections. In some cases, severe defects result in stillbirths. Common defects reported in Kenyan hospitals include brain and heart abnormalities, such as holes in the heart (ventricular septal defects).

“Some heart defects happen when structures that should close during development fail to do so,” the neurologist notes.

Other frequently seen conditions include gastroschisis (an open gut), hydrocephalus (abnormally large head due to fluid accumulation), spina bifida (an open spine), cleft lip and palate, genital ambiguities where the sex of the child is not immediately clear, missing or deformed limbs, underdeveloped lungs, and even rare cases where the heart is positioned on the right side of the chest instead of the left.

Some defects are genetic in origin, such as sickle cell disease, which affects the body at DNA level. These may present with visible symptoms or remain undetected for months or years.

Possible causes

The causes of congenital defects are varied. Advanced maternal or paternal age increases the risk of conditions such as Down syndrome and certain heart defects. Spina bifida is strongly associated with insufficient folic acid intake during early pregnancy, as well as alcohol consumption and cigarette smoking.

A family history of genetic disorders, or close biological relationships between parents (consanguinity), can significantly raise the chances of defects due to the pairing of similar genetic material. Infections during pregnancy — including rubella and syphilis — can also disrupt foetal development, leading to microcephaly, eye abnormalities, and damage to multiple organs. Importantly, many defects are preventable.

Proper maternal nutrition, particularly folic acid intake before and during the first trimester, can dramatically reduce the risk of neural tube defects such as spina bifida. Dr Tunje stresses the critical importance of early diagnosis.

“Every newborn should undergo a thorough head-to-toe examination within the first 48 hours of life,” she says. “For example, a baby should pass urine and stool shortly after birth. Failure to do so demands immediate specialist assessment.”

Yet in practice, diagnosis is often delayed due to a lack of essential diagnostic equipment such as echocardiography machines for heart assessment and advanced imaging for brain and spinal conditions.

Compounding the problem is a severe shortage of specialists, particularly paediatricians and paediatric neurologists, which hinders early detection and effective management.

The neurologist calls for greater awareness and training among all healthcare providers. “Every health worker conducting deliveries must be equipped to perform a quick but thorough assessment. If anything appears abnormal, the baby should be referred immediately to a higher-level facility,” she advises.

Beyond medical challenges lies a deeper societal issue: widespread stigma fuelled by ignorance and superstition.

“There is an urgent need to sensitise the public about the real causes of birth defects,” Dr Tunje says.

“When communities understand that these conditions stem from nutritional deficiencies, infections, or genetic factors — and not curses — families are less likely to reject or abandon affected children.”

Many defects can be detected even before birth. Dr Tunje recommends that every pregnant woman undergo an ultrasound scan, particularly in the first trimester — a critical period when major organ systems are forming and early abnormalities can often be identified.

Although Kenya still lacks comprehensive national data on the prevalence of congenital disorders, global statistics from the World Health Organization (WHO) paint a sobering picture: at least 240,000 newborns die within their first 28 days of life each year due to congenital disorders. Many more survive with lifelong disabilities when defects are detected too late.

Screening

In response, the WHO has been promoting the integration of newborn screening into routine maternal and child health services through initiatives such as Every Woman Every Newborn Everywhere (Ewene). The organisation encourages countries to begin with a small, manageable set of priority conditions that can be effectively screened, diagnosed, and treated within existing health systems.

This includes strengthening diagnostic capacity and improving referral pathways. During a recent international maternal and newborn health conference held in Nairobi, the WHO’s lead in reproductive, maternal and child health, Dr Ayesha De Costa, urged governments to carefully select initial conditions for screening based on local disease burden and health system readiness.

Kenya has already taken a significant step by incorporating screening for sickle cell disease — a genetic condition affecting DNA — into its maternal and child health programme. Kisumu County pioneered the initiative due to the high prevalence of the disease in the region.

Dr Bernard Awuonda, a paediatrician at Jaramogi Oginga Odinga Teaching and Referral Hospital, explains why sickle cell was chosen: “It is one of the predominant genetic conditions in our setting.”

The pilot screening programme began in 2021 as part of a seven-country African consortium. By February this year, over 184,000 babies had been screened. Results showed that 1.4 per cent had full sickle cell disease, while 17 per cent carried the sickle cell trait. Importantly, among 40,000 babies diagnosed with the disease, mortality dropped dramatically to just 3 per cent — a remarkable improvement from the historical 50 to 80 per cent mortality rate before the age of five in many parts of Africa.

“Babies with sickle cell disease are often fine for the first six months — cheerful, gaining weight, and seemingly healthy,” Dr Awuonda notes.

“But after six months, complications begin: swelling, anaemia, recurrent infections, and sometimes severe pneumonia due to acute chest syndrome. The spleen, which helps fight infections, starts to fail, leaving the child highly vulnerable.”

At Homa Bay County Teaching and Referral Hospital, Dr Edith Ogada, a paediatrician, explains the inheritance pattern clearly: “If both parents carry the sickle cell trait, each child has a 25 per cent chance of having the full disease, a 50 per cent chance of being a carrier, and a 25 per cent chance of being completely unaffected.”

She encourages universal early screening. At the hospital, testing begins with a rapid SickleSCAN blood test, with positive results confirmed through haemoglobin electrophoresis.

Screening is now integrated into routine care at six weeks and 12 months. Ministry of Health data indicates that approximately 14,000 babies are born with sickle cell disease annually in Kenya, with the highest burden in Western, Nyanza, and Coastal regions.

While treatment focuses on managing symptoms and preventing complications through medications such as hydroxyurea, folic acid, and regular follow-up, the only known cure remains bone marrow transplant, an option largely inaccessible and unaffordable for most families. “Children who miss early diagnosis often suffer severe, sometimes irreversible complications: chronic pain, bone deformities, impaired mobility, leg ulcers, stroke, acute chest syndrome, and priapism in boys,” Dr Ogada warns. “Many of these are preventable with timely intervention.”

mkahenda@standardmedia.co.ke