Joubert Syndrome: ‘My baby couldn’t lift his head, or sit down’  

Roselyn Kanja Odero’s son was diagnosed with this rare neurological disorder that affects one in 100,000 children worldwide…and is sometimes mistaken for cerebral palsy. 

When Roselyn Kanja Odero first held her newborn son, Morgan, there were no signs that anything was amiss. But as weeks turned to months, Roselyn began noticing the milestones were delayed. Morgan wasn’t holding his head up. He wasn’t sitting. Something wasn’t right.  

“He started holding his head up around the fifth month,” Roselyn recalls. “And then started sitting at three years,” the mother of two narrates.  

What followed was a long and confusing medical journey. Numerous hospital visits, recurrent infections, and no clear answers until a brain MRI changed everything. Morgan was diagnosed with Joubert syndrome, a rare neurological disorder that affects only 1 in 80,000 to 100,000 children worldwide.  

Today, Morgan is eight years old and attends school, where he continues to surprise those around him. While his physical and developmental milestones trail about two years behind his peers, his emotional intelligence and cognitive spark often shine brighter than expected. His progress, though uneven, is a powerful reminder that growth doesn’t always follow the same path. 

Joubert syndrome is a genetic condition caused by mutations in more than 30 known genes. It primarily affects brain development, especially the area responsible for balance and coordination. The telltale sign is a brain scan showing what doctors call the “molar tooth sign.”  

“So, Joubert’s syndrome is a condition that is caused by the fact that part of the brain is not formed,” explains Dr Catherine Mutinda, a paediatrician and geneticist. The reason she says “Is because the genetic imprint or the code that is responsible for that part being formed is either not there or it’s not working.”  

In the specific case of Joubert’s syndrome, the midbrain is not formed as it should be 

In Joubert syndrome, the midbrain, which controls vital motor functions, doesn’t form correctly. This causes a ripple effect across the body.  

“The brain is a big and serious organ that controls everything,” Dr Mutinda adds. “In the specific case of Joubert’s syndrome, the midbrain is not formed as it should be. And therefore, the functions of that part of the brain are all affected. This includes balance, inability to coordinate, and the way they are moving.”  

Roselyn and her husband had never heard of Joubert Syndrome before Morgan’s diagnosis. There was no known history of the condition in their families. Doctors explained that sometimes genetic conditions can occur spontaneously with no warning and no family precedent. This type of random genetic mutation is known as a de novo occurrence.

She is mindful that her older son, Morgan’s brother, could be a carrier of the same genetic mutation. She’s open about this reality and says she’s prepared to have that conversation with him when the time comes, especially as he starts thinking about starting a family of his own. 

Joubert’s Syndrome has no cure, but early interventions like physical and occupational therapy can significantly improve outcomes.  The financial burden of managing Morgan’s condition is immense. At one point, he required a specialised formula that cost around Ksh3,000 per pack, and he would go through one every week. Therapy remains an ongoing need, with sessions priced as high as Ksh3,000 each, and Morgan needing up to three sessions per week. 

Beyond the regular classroom support, Morgan requires a dedicated special-needs teacher 

He also uses a specialised stroller to support his mobility, but these aids are expensive, and Morgan outgrows them quickly. At school, his needs are even more complex: beyond the regular classroom support, he requires a dedicated special-needs teacher, since he is neither fully mobile nor verbally responsive. 

Joubert Syndrome is frequently misdiagnosed as cerebral palsy (CP), especially in babies who are floppy or experience seizures. However, cerebral palsy is a broad umbrella of conditions and should always be questioned. Accurate diagnosis is essential because the treatment and prognosis differ vastly.   

Dr Mutinda cautions against accepting such labels without scrutiny: “Let’s not accept CP as a blanket diagnosis. CP caused by what? That should be our question as parents.”  

Dr Mutinda emphasised the critical role of parents, especially mothers, in advocating for their children’s health. 

“As a mother, you are the primary caregiver, you are the primary doctor, you are the primary clinician. Trust that instinct,” she said, urging families to challenge vague or incomplete diagnoses.  

Her call is clear. Parents must feel empowered to ask tough questions, push for clarity, and seek comprehensive evaluations when something doesn’t add up.  

Morgan’s diagnosis was at a time when genetic counselling was still out of reach  

With few local specialists and limited online information at the time of diagnosis, Roselyn’s search for answers led to a dead end.  

“Google had several pages, I think ours stopped at page two. After that, it was unrelated searches,” she recalls. “You are in totally new territory.”  

Roselyn received Morgan’s diagnosis at a time when genetic counselling was still out of reach for most Kenyan families, deepening the uncertainty that followed the rare diagnosis. Roselyn recalls how a sleep study prompted by Morgan’s sleep apnea, where his body would literally forget to breathe, was one of the many steps on a long, diagnostic journey. 

Because the condition was so rare, she found herself carrying a file of all Morgan’s medical records, moving from one doctor to another. Often, Roselyn would have to explain his symptoms herself, helping the specialists piece together his care. The doctors who were willing to listen and learn alongside her became invaluable, helping her better understand her son’s complex condition. 

Navigating life with a rare disorder meant more than doctor appointments; it was emotional labour and constant explaining.  

“You hear things like, ‘Put him in the sun,’ or ‘You’re not praying enough.’ People’s opinions can sometimes be a burden.”Roselyn explains.  

Even simple errands or hiring a nanny required extra planning and patience. “Support for me,” Roselyn says, “looks like having a good nanny, and a community I can talk to. Because there are so many things to navigate. Roselyn has not been spared the sting of stigma. Something as simple as a trip to the supermarket often draws silent stares, whispers, or even sneers. The sight of Morgan in his specialised stroller seems to invite judgment from strangers who don’t understand his condition. 

The Kenyan government has now established a Rare Disease Working Group  

Over time, Roselyn has grown thick skin, grounding herself in faith and the unwavering belief that her child is a blessing, not a burden. She’s found strength in the support of her church community and from fellow parents within Rare Disorders Kenya, the organisation she co-founded. Her advice to other parents raising children with rare conditions:  “Curve out your own community” 

Roselyn, together with a friend, co-founded Rare Disorders Kenya, an advocacy and support group for families navigating rare diseases.  

Initially created to mark Rare Disease Day observed globally every February 28 or 29 in leap years, Rare Disorders Kenya has since evolved into a powerful platform raising awareness, providing community, and pushing for policy change.  

“We wanted people to realise rare diseases are over 7,000, and the number is growing,” Roselyn says.  

The advocacy is paying off. The Kenyan government has now established a Rare Disease Working Group, a significant step toward systemic change. The WHA78 Resolution on Rare Diseases, May 2025, urged countries to embed rare diseases into national health plans, ensuring early detection through strategies like newborn screening, and guaranteeing equitable access to diagnosis, treatment, and assistive technologies under universal health coverage.  

One of the key issues Roselyn champions is access to genetic counselling and screening.  

“It’s important to understand what it means for future pregnancies,” she says. “Even if I don’t have other children, my firstborn might be a carrier. He needs to know when he gets a partner.”Roselyn dreams of a Kenya where rare diseases are no longer hidden in silence, but understood, supported, and embraced.  

“Because no family,” she says, “should have to walk this journey alone.” 

One in 100,000: Raising a baby with Joubert Syndrome 

Joubert syndrome — a rare genetic condition marked by the tell-tale ‘molar tooth sign’ on brain scans — disrupts coordination, balance, and milestones, yet remains little known and often misunderstood.

When Roselyn Kanja Odero first held her newborn son, Morgan, nothing seemed amiss. But as weeks turned into months, milestones slipped by. Morgan wasn’t holding his head up; he wasn’t sitting. “He started holding his head up around the fifth month,” Roselyn recalls. “And then started sitting at three years,” she adds.

A long and confusing medical journey followed — endless hospital visits, recurrent infections, and no clear answers until a brain MRI revealed Joubert syndrome, a rare neurological disorder that affects only 1 in 80,000–100,000 children worldwide. Often mistaken for cerebral palsy, it’s caused by mutations in more than 30 genes that disrupt brain development, particularly in the midbrain, which controls balance and coordination.

“Joubert’s syndrome is a condition that is caused by the fact that part of the brain is not formed,” explains Dr Catherine Mutinda, paediatrician and geneticist. “The genetic imprint or code responsible for that part being formed is either not there or it’s not working.”

For Roselyn, the diagnosis brought both answers and challenges. Therapy sessions cost up to Ksh3,000 each, with Morgan sometimes needing three per week. A specialised formula once cost Ksh3,000 per pack — one pack per week. At school, Morgan requires both mobility aids and a dedicated special-needs teacher.

Now eight, Morgan still trails his peers by about two years developmentally, but his emotional intelligence and spark often outshine expectations. Roselyn, co-founder of Rare Disorders Kenya, urges parents to trust their instincts: “As a mother, you are the primary caregiver, the primary doctor, the primary clinician. Trust that instinct.”

Toxic Chicks: Why Kenya’s fried chicken is a looming health crisis

Research shows poultry farmers lace birds with antibiotics, which prevent infections, increase appetite, and promote faster growth but cause gastroenteritis, liver damage and antimicrobial resistance 

The deep-fried chicken that Kenyans consume voraciously could be their undoing, health-wise, because scientific evidence suggests the birds’ rapid growth may be turbocharged with antibiotics. 

In Kenya, antibiotics are commonly used in livestock farming for several reasons: the treatment and prevention of infections and, controversially, for growth promotion. Antibiotic classes such as tetracycline and sulfonamide have been found to enhance growth rates and improve feed efficiency in livestock, where the animals gain the same amount of weight but on less feed. 

A 2021 study titled Antimicrobial Use by Peri-urban Poultry Smallholders of Kajiado and Machakos Counties in Kenya by Florence Mutua, affiliated with the International Livestock Research Institute (ILRI), examined antibiotic use by this population of farmers.  

The research found that 41% of them used veterinary drugs—including antibiotics, dewormers, disinfectants, traditional remedies, vitamins, and other products—to boost growth in non-poultry species. Of the 112 poultry farmers surveyed, 27 (24%) reported using antibiotics to promote the growth rate in their birds. 

While the mechanism is not fully understood, some scientists believe that antibiotics increase weight gain by reducing the population of harmful microbiota in the animals’ gastrointestinal tracts. This creates a more favourable environment for digestion and nutrient absorption, allowing animals to utilize their feeds efficiently. 

Rapid growth, risky practices

A study titled Use of Non-Antibiotic Growth Promoters in Chicken Broiler Production in Kenya by Dr Odede Rezin Ochieng, a veterinary doctor and technical director at Sidai Africa, compared the growth rates of broilers fed on regular animal feeds, feeds containing antibiotic growth promoters (AGPs), and those supplemented with organic acids. 

The findings showed that birds raised on diets with antibiotics experienced quicker growth and improved feed conversion efficiency than those on pure animal feeds or feeds enhanced with organic acids. Additionally, broilers fed on low-dose antibiotics exhibited the highest feed intake, indicating a stimulated appetite. 

According to the Commonwealth Agricultural Bureaux International (CABI) blog, the veterinary use of antibiotics as growth promoters in Kenya is linked to economic gains─ they contribute to higher yields of meat, milk, and eggs, hence boosting food security and supporting livelihoods. 

The Ministry of Agriculture and Livestock reports that commercial poultry farmers in Kenya typically rear between 500 and 5,000 birds, with larger farms exceeding these numbers. 

When hundreds of birds are kept in confined spaces, this can lead to stress and poor hygiene, creating a perfect breeding ground for bacteria. Consequently, farmers put antibiotics in animal feeds and water to prevent the spread of infections. Flocks of chickens end up being dosed with antibiotics, whether sick or not. 

The scale-up of antibiotics, primarily as a substitute for good nutrition and proper hygiene in livestock production, including poultry, is unsustainable because it contributes to antimicrobial resistance. It also raises concerns about food safety and environmental impact. 

A Breeding ground for resistance

In 2021, Harrison Rware, the learning, monitoring, and evaluation officer at CABI in Africa, carried out a study that sought to examine veterinary antibiotic use in Kenya. He collected data from Machakos, Isiolo, Narok, Elgeyo Marakwet, and Trans Nzoia counties. 

His findings revealed that 80% of the surveyed farms used antibiotics; 58% administered antibiotics themselves, often without a prescription from the veterinary professionals. The same study found that 95% of farmers had acquired antibiotics without prescriptions. They relied on over-the-counter antibiotics, contributing to the risk of managing undiagnosed diseases, using the wrong medicine, and/or administering incorrect dosages. This can lead to the emergence of bacteria that are resistant to antibiotics. 

Salmonella spp., Campylobacter spp., and Escherichia coli are some of the most prevalent bacteria responsible for infections in poultry species in Kenya. 

The World Health Organization (WHO) states that the use of antibiotics like ciprofloxacin in livestock has led to the emergence of ciprofloxacin-resistant strains of Salmonella spp., Campylobacter spp., and E. coli, which have caused difficult-to-treat human infections. 

These resistant bacteria (superbugs) are transmitted to humans via direct contact between animals and people or through the food chain and the environment.  For example, poultry meat can become contaminated with drug-resistant Campylobacter spp. through faeces during butchering. Consuming such chicken that is undercooked may lead to gastroenteritis, which is characterized by symptoms such as diarrhoea, abdominal cramps, fever, nausea and vomiting. 

Antibiotic-resistant genes have been detected in humans, suggesting indirect evidence of transfer through the food chain. In his study of Escherichia coli, Dr. Dishon Muloi, a veterinary scientist and affiliate of ILRI, identified antibiotic-resistance genes in humans, livestock, and wildlife in Nairobi. This revealed the interrelationship of these populations, with the results aligning with a similar study conducted in Maasai Mara by Winfridah Onyari, a Kenyan veterinary researcher. 

What needs to change

Indeed, the accidental discovery of penicillin by British scientist Alexander Fleming in 1928 marked the dawn of the antibiotic era, revolutionizing human and veterinary medicine. Antibiotics treated previously troublesome infections like cow mastitis. They have also enhanced livestock productivity, reshaping agriculture. 

However, the overuse and misuse of antibiotics have given rise to resistant bacterial strains ─ an unfortunate battle for humans and future generations. 

The use of antibiotics in livestock can impact public health. Failure to observe withdrawal periods can result in animal products with antibiotic residues. According to the WHO, consuming such contaminated products increases the risk of developing allergic reactions or liver damage in people with compromised immunity. 

As such, distributing veterinary products directly to farmers vis-à-vis doing so through animal health providers may lead to higher antibiotic use, potentially driving the development of antimicrobial resistance, while strengthening the role of veterinarians and other animal health professionals is vital to address this issue. 

To address antimicrobial resistance (AMR) in animals and decrease its impact on Kenyans, the government can improve surveillance systems that track antibiotic usage and resistance patterns, ensuring accurate data collection and analysis. 

It can enact legislation to limit non-therapeutic antibiotic usage, promote alternatives such as enhanced sanitation, biosecurity measures, and probiotics, and educate farmers and veterinarians about the dangers of AMR and responsible antibiotic use. 

Finally, experts can implement the One Health concept, which requires collaborative efforts among the health, agriculture, and environmental sectors, as well as research investments to produce novel vaccines, treatments, and diagnostic tools. These initiatives attempt to reduce antibiotic abuse, prevent the spread of resistance, and protect both animal and human health for long-term sustainability. 

Dr Sharon Wambua is a pharmacist and creative non-fiction writer.