Ndeye Lam visits the cemetery usually, praying and gently touching the seashells laid out throughout her daughter’s gravesite.
“Mariama will at all times be right here,” she mentioned, stepping away from the grave and onto a path that winds by 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At house, Lam and her husband Pathé smiled over an outdated video clip of their daughter beaming as she celebrated her thirteenth birthday with cake and sparklers.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 woman was little, she cherished to play. By 13, her muscular tissues 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 respiration, but it surely was too late.
Globally, greater than 350 million individuals reside with uncommon ailments, most of them brought on by a misstep hidden inside their genes. Some circumstances might be caught early and handled—however in elements of Africa the place inhabitants information and sources are scarce, many individuals go undiagnosed. Rodriguez is making an attempt to alter that by connecting sufferers with genetic testing and medical assist, whereas gathering key information from these sufferers and their households.
“Most uncommon illness information has been collected from individuals of European ancestry, so we’ve got little or no data about what’s occurring in different elements of the world, primarily 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 USA. And he has consulted with scientists in China, France, Boston, and elsewhere world wide, documenting uncommon ailments and novel disease-causing gene variants.
That analysis is making a library of genetic information for scientists and clinicians. Sufferers in Senegal are benefiting, too, with a path to prognosis.
Genetic testing and prognosis might be life-saving
In Guediawaye, Fatoumata Binta Sané’s daughter Aissata has glutaric acidemia sort I, an inherited dysfunction wherein 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, communicate, 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 shouldn’t be routine. Infants who seem wholesome at beginning may go undiagnosed and expertise irreversible decline. Glutaric acidemia sort I, for instance, could cause mind harm, seizures, coma and early dying.
Sané is ready for genetic testing outcomes for Aissata’s one-year-old sister Aminata. Sufferers can reside lengthy, wholesome lives if they begin therapy earlier than the onset of signs. That features following a strict food plan, avoiding protein-rich meals like nuts, fish and meat and taking the complement L-carnitine. Although session with Rodriguez was free, lifelong therapy shouldn’t be. If Aminata shares her sister’s illness, Sané will want authorities help to purchase medicine.
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.
“College students journey from throughout Africa to check right here,” Ndiaye mentioned.
Firstly of her profession, Dr. Henriette Senghor noticed sufferers who have been hospitalized for months. Some died, and nobody knew why.
“There was this downside—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 Heart 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 individuals—sufferers and households—have enrolled in his examine of uncommon illness in West Africa.
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 current 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 check outcomes are pending. Youngsters usually lose the flexibility to run or climb stairs first, and later cannot stroll or elevate their arms. In maturity, they develop coronary heart and respiration issues.
Each boys are taking corticosteroids, which might gradual illness development for sufferers recognized early.
“With out the medicine, it could have been horrible. As soon as we began, after a number of weeks we noticed enchancment,” Samba mentioned. “Docs are destined to research (the illness) and discover a treatment … I pray medical doctors will discover a treatment.”
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 at college. Quickly, she felt ache all through her physique. She could not transfer. She misplaced her listening to, the energy in her arms and management of the muscular tissues in her face.
Diene, who comes from a rural village in Senegal, has riboflavin transporter deficiency. Excessive doses of vitamin B2—a complement accessible on Amazon—can gradual, cease and even reverse harm from this situation that’s deadly with out therapy.
Diene took her first dose when she was recognized 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 arms. Diene’s brother Thierno mentioned vitamin B2 is pricey, however he is aware of his sister wants it for the remainder of her life.
“I’m completely satisfied,” Diene mentioned, smiling. “I hope to maintain bettering.”
Whereas efforts like these assist sufferers, in addition they enable medical doctors to gather information—and that is very important for uncommon illness analysis, coverage and drug growth, mentioned Lauren Moore, chief scientific officer on the Nationwide Ataxia Basis.
“Essentially the most prevalent ailments get essentially the most consideration and essentially the most funding,” she mentioned. “Knowledge … actually is step one.”
A $50,000 grant from the muse permits Rodriguez and colleagues to enroll examine individuals in Senegal and Nigeria with inherited ataxias—which might 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.
World collaboration is important, mentioned Ndiaye—and strengthening native infrastructure is simply as essential.
“The necessity is there,” she mentioned. “And we’ve got quite a lot of hope.”
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Uncommon ailments usually go undiagnosed or untreated in elements of Africa. A venture seeks to alter that (2025, April 27)
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