Imagine the terror of watching your child slowly slip away, as doctors look at you with uncertainty and offer yet another treatment that fails. This long, exhausting search for answers, with no clear diagnosis in sight, is what thousands of Tanzanian families endure year after year. For Dr Mariam Noorani, Assistant Professor and Chair of the Department of Paediatrics and Child Health at Aga Khan University (AKU) in Dar es Salaam, these crushing cases have become her personal calling.
It all started with a small boy named Ali Kimara. “He came to us with what looked like a simple case of pneumonia," Mariam recalls softly. “But he just didn't get better."
Months of searching for treatment at various hospitals globally, revealed the issue lay in his muscles. Years of testing followed, yet a clear diagnosis never emerged. His younger sister Nasreen faced the same battle and sadly passed away at just three years old. Those experiences turned Mariam into a determined advocate.
Driven by what she had witnessed, Mariam later teamed up with colleagues to carry out a landmark study. Published in May this year in PLOS Global Public Health, it asked a straightforward question: what do Tanzania's paediatricians see and struggle with when it comes to children with suspected rare diseases?
The team reached 168 paediatricians through the Pediatric Association of Tanzania (PAT). The responses were startling. Every single doctor had cared for at least one child they suspected had a rare disease during their career, and more than half had seen such a case in the previous six months. Genetic and metabolic conditions were the most common, followed by neurological, muscular and heart disorders. Many described children with unusual combinations of symptoms that left doctors confused.
“We often assume rare means these conditions hardly ever appear. But when you look at them together, they touch far more lives than most people realise."
The biggest challenge, mentioned by nearly every doctor, was the lack of access to proper diagnostic tests, especially genetic ones. Many also reported having no effective treatments and facing long delays or never getting a clear diagnosis.
“The burden is much bigger than we thought; many children are misdiagnosed or die before we even know what they have."
A mere minority of doctors were taught about rare diseases at university or during specialist training. A significant majority felt unprepared when these children came into their clinics, and an overwhelming proportion had no easy way to get expert advice. “These doctors don't always know where to refer a child or who to call for guidance," she explained.
Beyond the hospital walls, the misunderstanding runs even deeper. In many communities, families often face blame, with conditions dismissed as witchcraft or the mother's fault. Children are sometimes hidden away, or families turn to risky alternatives because hospitals seem to offer no answers.
It is to combat this very stigma and lack of support that Mariam serves on the board of the Ali Kimara Rare Disease Foundation (AKRDF). Inspired by Ali's story, the foundation helped secure government approval for home-schooling children with rare conditions. Ali, now 15 and dependent on a ventilator, was the first to benefit.
Despite the challenges, Mariam encourages parents to watch for recurring serious illnesses, developmental delays, or minor issues that quickly escalate. Most importantly, she urges them to seek help early and trust the healthcare system.
“We don't have all the answers yet, but we cannot give up on these children."
