Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

DAKAR, Senegal (AP) — 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.

“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 said.

His research is funded by organizations including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States. And he has consulted with scientists in China, France, Boston, and elsewhere around the world, documenting rare diseases and novel disease-causing gene variants.

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 toward 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.

In the U.S., newborns are screened for treatable genetic conditions. In Senegal, newborn screening is not routine. Infants who appear healthy at birth might go undiagnosed and experience irreversible decline. Glutaric acidemia type I, for example, 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.

Prof. Moustapha Ndiaye, head of the neurology department at Fann, hopes young physicians will graduate prepared to assist rare disease patients not just in Senegal but in other African countries.

“Students travel from across Africa to study here,” Ndiaye said.

At the start of her career, Dr. Henriette Senghor saw patients who were hospitalized for months. Some died, and no one knew why.

“There was this problem—there was this void,” said Senghor, who’s now training with Rodriguez.

In 2021, Rodriguez established a partnership between the Cheikh Anta Diop University of Dakar and CNAG, the National Center for Genomic Analysis in Barcelona. Rodriguez collects patients’ blood samples and delivers the extracted DNA to Barcelona, where scientists sequence it, 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.

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 U.S. Outside, he started to climb a pile of bicycles propped up against the wall, and Gibriel followed.

“We’re climbing Mount Everest,” Adama said.

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. Gibriel's genetic test results are pending. Children often lose the ability to run or climb stairs first, and later can’t walk or raise their arms. In adulthood, they develop heart and breathing problems.

Both boys are taking corticosteroids, which can slow disease progression for patients diagnosed early.

“Without the medication, it would have been terrible. Once we started, after a few weeks we saw improvement,” Samba said. “Doctors are destined to investigate (the disease) and find a cure … I pray doctors will find a cure.”

Back at Fann Hospital, Rodriguez and Senghor consult with Woly Diene, 25, and her mother and brother. When Diene was 15, she started falling at school. Soon, she felt pain throughout her body. She couldn’t move. She lost her hearing, the strength in her hands and control of the muscles in her face.

Diene, who comes from a rural village in Senegal, has riboflavin transporter deficiency. High doses of vitamin B2—a supplement available on Amazon—can slow, stop and even reverse damage from this condition that is fatal without treatment.

Diene took her first dose when she was diagnosed in August 2023. She still has some difficulty hearing, but Diene is walking again. She has regained the strength in her face and hands. Diene’s brother Thierno said vitamin B2 is expensive, but he knows his sister needs it for the rest of her life.

“I am happy,” Diene said, smiling. “I hope to keep improving.”

While efforts like these help patients, they also allow doctors to collect data—and that’s vital for rare disease research, policy and drug development, said Lauren Moore, chief scientific officer at the National Ataxia Foundation.

“The most prevalent diseases get the most attention and the most funding,” she said. “Data … really is the first step.”

A $50,000 grant from the foundation allows Rodriguez and colleagues to enroll study participants in Senegal and Nigeria with inherited ataxias—which can lead to muscle weakness, loss of mobility, hearing and vision difficulties and life-shortening heart problems.

The USAID cuts have not affected his research, but grant awards are limited. Rodriguez, Senghor and Rokhaya Ndiaye, professor of human genetics at the University of Dakar, are making plans to ensure genetic testing continues in Senegal.

Global collaboration is essential, said Ndiaye—and strengthening local infrastructure is just as important.

“The need is there,” she said. “And we have a lot of hope.”

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Ndeye Lam sends a prayer at the foot of her daughter Mariama's grave in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

Ndeye Lam looks at photos of her deceased daughter Mariama who died at age 13 of a rare genetic disease, in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

Pathe Gueye, left, and Ndeye Lam, right, stand on their roof in Dakar, Senegal Saturday, Jan. 11, 2025. Their daughter Mariama died at age 13 of a rare genetic disease. (AP Photo/Annika Hammerschlag)

Rare disease researcher Pedro Rodriguez, left, examines Ibrahima Ndiaye, 8, in Dakar, Senegal, Friday, Jan. 10, 2025. (AP Photo/Annika Hammerschlag)

Neurology student Henriette Dieng examines Abdou Diop, a patient with genetic neuropathy at Pedro Rodriguez's clinic in Dakar, Senegal, Friday, Jan. 10, 2025. (AP Photo/Annika Hammerschlag)

Mamadou, 13, watches children play in Dakar, Senegal, Saturday January 11, 2025. (AP Photo/Annika Hammerschlag)

Fatoumata Sané holds her daughter Aissata, 8, who suffers from a rare genetic disease, at their home in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

A man helps Adiaratou Ba, right, lift her son Mamadou, 13, suffering from a rare genetic disease, onto the curb in Dakar, Senegal, Saturday Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

Neurology student Henriette Dieng examines Abdou Diop, a patient with genetic neuropathy at Pedro Rodriguez's clinic in Dakar, Senegal, Friday, Jan. 10, 2025. (AP Photo/Annika Hammerschlag)

WARSAW, Poland (AP) — A war next door in Ukraine.Migration pressure at borders. Russian sabotage across the region. Doubts about the U.S. commitment to Europe's security.

In Poland’s presidential election Sunday, security looms large. So do questions about the country’s strength as a democracy and its place in the European Union. One of the new president’s most important tasks will be maintaining strong ties with the United States, widely seen as essential to the survival of a country in an increasingly volatile neighborhood.

Voters in this Central European nation of 38 million people will cast ballots to replace conservative incumbent Andrzej Duda, whose second and final five-year term ends in August.

With 13 candidates, a decisive first-round victory is unlikely. Some have appeared unserious or extreme, with a couple expressing openly pro-Putin or antisemitic views. A televised debate this week dragged on for nearly four hours. There are calls to raise the threshold to qualify for the race.

A runoff on June 1 is widely expected, with polls pointing to a likely showdown between Rafał Trzaskowski, the liberal mayor of Warsaw, and Karol Nawrocki, a conservative historian backed by the Law and Justice party, which governed Poland from 2015 to 2023.

Poland’s geography gives the election added importance. Bordering Russia’s Kaliningrad exclave, Belarus and war-torn Ukraine — as well as several Western allies — Poland occupies a critical position along NATO’s eastern flank and serves as a key logistics hub for military aid to Ukraine.

There are growing fears that if Russia prevails in its full-scale invasion of Ukraine, it could target other countries that freed themselves from Moscow's control some 35 years ago. Against that backdrop, the election will shape Warsaw’s foreign policy at a moment of mounting strain on trans-Atlantic unity and European defense.

Both leading candidates support continued U.S. military engagement in Europe. Trzaskowski puts greater emphasis on deepening ties with the European Union, while Nawrocki is more skeptical of Brussels and promotes a nationalist agenda.

When Law and Justice held power, it repeatedly clashed with EU institutions over judicial independence, media freedom and migration.

While Poland is a parliamentary democracy, the presidency wields significant influence. The president serves as commander-in-chief of the armed forces, holds veto power, shapes foreign policy and plays a symbolic role in national discourse.

Under Duda, the office largely advanced the conservative agenda of Law and Justice. Since Prime Minister Donald Tusk’s centrist coalition came to power in late 2023, Duda has blocked key reforms aimed at restoring judicial independence and repairing relations with the EU.

“The stakes are enormous for the ruling coalition and for those concerned with the future of Polish democracy,” said Jacek Kucharczyk, president of the Institute of Public Affairs, a Warsaw think tank. “This is about democratic reform and restoring the rule of law — and that can only happen with cooperation from the next president.”

The election is also pivotal for Law and Justice, Kucharczyk noted: “Its future as a dominant political force may hinge on the outcome.”

Both Trzaskowski and Nawrocki have pledged to support Ukraine and maintain strong defense ties, but their visions for Poland diverge sharply on the role of the EU and domestic social policy.

Trzaskowski, 52, is a former presidential contender and a senior figure in Civic Platform, the centrist party led by Tusk. He is running on a pro-European platform and has pledged to defend judicial independence and rebuild democratic institutions.

Supporters describe him as a modernizer who represents a cosmopolitan, outward-facing Poland. He speaks foreign languages, has marched in LGBTQ+ parades and appeals to younger, urban voters. Trzaskowski's progressive views highlight an evolution of the once more conservative Civic Platform.

Nawrocki, 42, represents how the party backing him, Law and Justice, is turning further to the right as support for the hard right grows.

Nawrocki, who is not a Law and Justice party member, heads the state-backed Institute of National Remembrance, which investigates Nazi and communist-era crimes. He has drawn praise from conservatives for dismantling Soviet monuments and promoting patriotic education, but he faces criticism for inexperience and playing on anti-German and other resentments. He has also been embroiled in some scandals.

Earlier this month, Nawrocki met with U.S. President Donald Trump at the White House — a symbolic moment welcomed by Law and Justice-friendly media as proof that he would be the best man for keeping the relationship with the United States strong. Critics viewed it as interference by Trump's administration.

This week Nawrocki was joined on the campaign trail by Romanian nationalist George Simion, who faces a runoff vote for the presidency on Sunday. Simion is viewed by critics as pro-Russian, leading Tusk to tweet: "Russia is pleased. Nawrocki and his pro-Russian Romanian counterpart George Simion on the same stage five days before the presidential elections in Poland and Romania. Everything is clear.“

AP video reporter Rafał Niedzielski contributed to this report.

Warsaw Mayor Rafał Trzaskowski, a liberal candidate in Poland's presidential election, speaks to supporters during a campaign stop, in Lodz, Poland, Friday, May 9, 2025. (AP Photo/Czarek Sokolowski)

Far-right Confederation party's presidential candidate Sławomir Mentzen poses for a photo with supporters in Saturday,Warsaw, Poland, May 10, 2025. (AP Photo/Czarek Sokolowski)

Supporters join a campaign rally in support of presidential candidate Szymon Hołownia in Warsaw, Poland ,Tuesday, May 13, 2025. (AP Photo/Czarek Sokolowski)

People carry placards in support of conservative presidential candidate Karol Nawrocki in Warsaw, Poland, Tuesday, May 13, 2025. (AP Photo/Czarek Sokolowski)

Warsaw Mayor Rafał Trzaskowski, a liberal candidate in Poland's presidential election, waves to supporters during a campaign stop, in Lodz, Poland, Friday, May 9, 2025. (AP Photo/Czarek Sokolowski)