Rare diseases often go undiagnosed in Africa

Ndeye Lam visits the cemetery often, praying and gently touching the sea shells 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.

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At home, Lam and her husband Pathé smiled over an old video clip of their daughter beaming as she celebrated her I3th birthday with cake and sparklers. When the girl was little, she loved to play. By I3, 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.