Rare diseases often go undiagnosed in Africa

Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. “Mariama will always be here,” she said, stepping away from the grave and onto a path that winds through rows of monuments outlined with white tile, stone and sand. At home, Lam and her husband Pathé smiled over an old video clip of their daughter beaming as she celebrated her 13th birthday with cake and sparklers. When the girl was little, she loved to play. By 13, her muscles had weakened, her spine had curved and stiffened and in her last months, she struggled increasingly to breathe.

She visited Fann hospital in Dakar, where neurologist Dr. Pedro Rodriguez Cruz measured her lung capacity. He suspects Mariama had SELENON-related myopathy, a muscular dystrophy that causes severe respiratory compromise. A new BiPAP machine might have helped to ease her breathing, but it was too late. Globally, more than 350 million people live with rare diseases, most of them caused by a misstep hidden within their genes. Some conditions can be caught early and treated – but in parts of Africa where population data and resources are scarce, many people go undiagnosed. Rodriguez is trying to change that by connecting patients with genetic testing and medical support, while gathering key data from those patients and their families.

His research is funded by organisations including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States. That research is creating a library of genetic data for scientists and clinicians. Patients in Senegal are benefiting, too, with a path to diagnosis. In Guediawaye, Fatoumata Binta Sané’s daughter Aissata has glutaric acidemia type I, an inherited disorder in which the body can’t process certain proteins properly. Her arms and legs are tightly drawn up towards her chest. She can’t walk or reach for things, speak, sit on her own or hold her head up. Sané cradles Aissata in her arms constantly, and the 8-year-old smiles at the sound of her mother’s voice, according to the Associated Press.

In the US, newborns are screened for treatable genetic conditions. In Senegal, newborn screening is not routine. Glutaric acidemia type can cause brain damage, seizures, coma and early death. Sané is waiting for genetic testing results for Aissata’s one-year-old sister Aminata. Patients can live long, healthy lives if they start treatment before the onset of symptoms. That includes following a strict diet, avoiding protein-rich foods like nuts, fish and meat and taking the supplement L-carnitine. Though consultation with Rodriguez was free, lifelong treatment is not. If Aminata shares her sister’s disease, Sané will need government assistance to buy medication.

In 2021, Rodriguez established a partnership between the Cheikh Anta Diop University of Dakar and the Center for National Center for Genomic Analysis in Barcelona. Rodriguez collects patients’ blood samples and delivers them to Barcelona, where scientists analyse the extracted DNA, storing the answers it holds in a large database. Almost 1,300 participants –patients and families – have enrolled in his study of rare disease in West Africa, the AP report adds.

In the Gambia, Fatou Samba’s sons Adama, 8, and Gibriel, 4, like to play soccer and feed the sheep in their backyard. On a recent afternoon, they took turns playing with a toy airplane and a globe. Adama, who hopes to be a pilot, pointed to where he wanted to go: the US. Outside, he started to climb a pile of bicycles propped up against the wall, and Gibriel followed. Standing on a bicycle wheel, Adama hesitated.

Samba reached for him, setting him down on solid ground. There is a tiny scar on his forehead where broken skin has been stitched back together. Last year, Samba couldn’t explain his frequent falling, so she sought answers in Dakar. Rodriguez confirmed Adama had Duchenne muscular dystrophy. Both boys are taking corticosteroids, which can slow disease progression for patients diagnosed early.