Neurology scholar Henriette Dieng examines Abdou Diop, a affected person with genetic neuropathy at Pedro Rodriguez’s clinic in Dakar, Senegal, Friday, Jan. 10, 2025. Credit score: AP Photograph/Annika Hammerschlag
Ndeye Lam visits the cemetery usually, praying and gently touching the seashells laid out throughout her daughter’s gravesite.
“Mariama will always be here,” she mentioned, stepping away from the grave and onto a path that winds via rows of monuments outlined with white tile, stone and sand.
At house, Lam and her husband Pathé smiled over an outdated video clip of their daughter beaming as she celebrated her thirteenth birthday with cake and sparklers. When the lady was little, she liked to play. By 13, her muscle tissue had weakened, her backbone had curved and stiffened and in her final months, she struggled more and more to breathe.
She visited Fann hospital in Dakar, the place neurologist Dr. Pedro Rodriguez Cruz measured her lung capability. He suspects Mariama had SELENON-related myopathy, a muscular dystrophy that causes extreme respiratory compromise. A brand new BiPAP machine may need helped to ease her respiratory, however it was too late.
Globally, greater than 350 million folks stay with uncommon ailments, most of them attributable to a misstep hidden inside their genes. Some circumstances will be caught early and handled—however in elements of Africa the place inhabitants knowledge and assets are scarce, many individuals go undiagnosed. Rodriguez is attempting to alter that by connecting sufferers with genetic testing and medical assist, whereas gathering key knowledge from these sufferers and their households.
“Most rare disease data has been collected from people of European ancestry, so we have very little knowledge about what’s happening in other parts of the world, mainly in Africa,” Rodriguez mentioned.
His analysis is funded by organizations together with the La Caixa Basis in Spain and the Nationwide Ataxia Basis in the US. And he has consulted with scientists in China, France, Boston, and elsewhere all over the world, documenting uncommon ailments and novel disease-causing gene variants.
That analysis is making a library of genetic knowledge for scientists and clinicians. Sufferers in Senegal are benefiting, too, with a path to analysis.
A person helps Adiaratou Ba, proper, raise her son Mamadou, 13, affected by a uncommon genetic illness, onto the curb in Dakar, Senegal, Saturday Jan. 11, 2025. Credit score: AP Photograph/Annika Hammerschlag
Genetic testing and analysis will be life-saving
In Guediawaye, Fatoumata Binta Sané’s daughter Aissata has glutaric acidemia sort I, an inherited dysfunction through which the physique cannot course of sure proteins correctly. Her legs and arms are tightly drawn up towards her chest. She will be able to’t stroll or attain for issues, converse, sit on her personal or maintain her head up. Sané cradles Aissata in her arms consistently, and the 8-year-old smiles on the sound of her mom’s voice.
Within the U.S., newborns are screened for treatable genetic circumstances. In Senegal, new child screening just isn’t routine. Infants who seem wholesome at delivery would possibly go undiagnosed and expertise irreversible decline. Glutaric acidemia sort I, for instance, could cause mind harm, seizures, coma and early demise.
Sané is ready for genetic testing outcomes for Aissata’s one-year-old sister Aminata. Sufferers can stay lengthy, wholesome lives if they begin therapy earlier than the onset of signs. That features following a strict eating regimen, avoiding protein-rich meals like nuts, fish and meat and taking the complement L-carnitine. Although session with Rodriguez was free, lifelong therapy just isn’t. If Aminata shares her sister’s illness, Sané will want authorities help to purchase remedy.
Prof. Moustapha Ndiaye, head of the neurology division at Fann, hopes younger physicians will graduate ready to help uncommon illness sufferers not simply in Senegal however in different African international locations.
“Students travel from across Africa to study here,” Ndiaye mentioned.
Initially of her profession, Dr. Henriette Senghor noticed sufferers who have been hospitalized for months. Some died, and nobody knew why.
“There was this problem—there was this void,” mentioned Senghor, who’s now coaching with Rodriguez.
In 2021, Rodriguez established a partnership between the Cheikh Anta Diop College of Dakar and CNAG, the Nationwide Middle for Genomic Evaluation in Barcelona. Rodriguez collects sufferers’ blood samples and delivers the extracted DNA to Barcelona, the place scientists sequence it, storing the solutions it holds in a big database. Nearly 1,300 members—sufferers and households—have enrolled in his examine of uncommon illness in West Africa.
Fatoumata Sané holds her daughter Aissata, 8, who suffers from a uncommon genetic illness, at their house in Dakar, Senegal, Saturday, Jan. 11, 2025. Credit score: AP Photograph/Annika Hammerschlag
Households cross borders for care
Within the Gambia, Fatou Samba’s sons Adama, 8, and Gibriel, 4, prefer to play soccer and feed the sheep of their yard. On a latest afternoon, they took turns enjoying with a toy airplane and a globe. Adama, who hopes to be a pilot, pointed to the place he needed to go: the U.S. Outdoors, he began to climb a pile of bicycles propped up towards the wall, and Gibriel adopted.
“We’re climbing Mount Everest,” Adama mentioned.
Standing on a bicycle wheel, Adama hesitated. Samba reached for him, setting him down on stable floor. There’s a tiny scar on his brow the place damaged pores and skin has been stitched again collectively. Final yr, Samba could not clarify his frequent falling, so she sought solutions in Dakar. Rodriguez confirmed Adama had Duchenne muscular dystrophy. Gibriel’s genetic take a look at outcomes are pending. Kids usually lose the power to run or climb stairs first, and later cannot stroll or increase their arms. In maturity, they develop coronary heart and respiratory issues.
Each boys are taking corticosteroids, which may gradual illness development for sufferers identified early.
“Without the medication, it would have been terrible. Once we started, after a few weeks we saw improvement,” Samba mentioned. “Doctors are destined to investigate (the disease) and find a cure … I pray doctors will find a cure.”
Knowledge is step one
Again at Fann Hospital, Rodriguez and Senghor seek the advice of with Woly Diene, 25, and her mom and brother. When Diene was 15, she began falling in school. Quickly, she felt ache all through her physique. She could not transfer. She misplaced her listening to, the energy in her fingers and management of the muscle tissue in her face.
Diene, who comes from a rural village in Senegal, has riboflavin transporter deficiency. Excessive doses of vitamin B2—a complement obtainable on Amazon—can gradual, cease and even reverse harm from this situation that’s deadly with out therapy.
Mamadou, 13, watches kids play in Dakar, Senegal, Saturday January 11, 2025. Credit score: AP Photograph/Annika Hammerschlag
Diene took her first dose when she was identified in August 2023. She nonetheless has some problem listening to, however Diene is strolling once more. She has regained the energy in her face and fingers. Diene’s brother Thierno mentioned vitamin B2 is dear, however he is aware of his sister wants it for the remainder of her life.
“I am happy,” Diene mentioned, smiling. “I hope to keep improving.”
Whereas efforts like these assist sufferers, in addition they permit docs to gather knowledge—and that is important for uncommon illness analysis, coverage and drug improvement, mentioned Lauren Moore, chief scientific officer on the Nationwide Ataxia Basis.
“The most prevalent diseases get the most attention and the most funding,” she mentioned. “Data … really is the first step.”
A $50,000 grant from the muse permits Rodriguez and colleagues to enroll examine members in Senegal and Nigeria with inherited ataxias—which may result in muscle weak spot, lack of mobility, listening to and imaginative and prescient difficulties and life-shortening coronary heart issues.
The USAID cuts haven’t affected his analysis, however grant awards are restricted. Rodriguez, Senghor and Rokhaya Ndiaye, professor of human genetics on the College of Dakar, are planning to make sure genetic testing continues in Senegal.
International collaboration is crucial, mentioned Ndiaye—and strengthening native infrastructure is simply as necessary.
“The need is there,” she mentioned. “And we have a lot of hope.”
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Uncommon ailments usually go undiagnosed or untreated in elements of Africa. A challenge seeks to alter that (2025, April 27)
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