Photo credit: www.yahoo.com
DAKAR, Senegal (AP) — Ndeye Lam frequently visits the cemetery, where she offers prayers and softly touches the seashells arranged at her daughter’s grave.
“Mariama will always be here,” she reflects, stepping away from the grave and onto a pathway lined with memorials crafted from tile, stone, and sand.
At home, Lam and her husband Pathé share a warm moment while watching an old video of their daughter, who radiated joy while celebrating her 13th birthday with cake and sparklers. Mariama’s childhood was filled with play, but by the age of 13, she was grappling with severe muscle weakening, a curved spine, and breathing difficulties.
During her time at Fann Hospital in Dakar, neurologist Dr. Pedro Rodriguez assessed her lung function and suspects Mariama suffered from SELENON-related myopathy, a form of muscular dystrophy leading to severe respiratory distress. Although a new BiPAP machine could have alleviated her breathing struggles, it arrived too late.
Globally, over 350 million individuals are affected by rare diseases, many caused by genetic anomalies. While some conditions can be diagnosed early and treated, in many parts of Africa, a lack of population data and resources results in many going undiagnosed. Rodriguez is working to bridge this gap by linking patients with genetic testing and medical care while compiling essential data from affected families.
“Most data on rare diseases has been dominated by individuals of European descent, leaving a significant knowledge void about other regions, particularly Africa,” Rodriguez noted.
His research, supported by organizations such as the La Caixa Foundation in Spain and the National Ataxia Foundation in the U.S., seeks to document rare diseases and discover new gene variants. This initiative is crafting a genetic database that will aid both scientists and clinicians, providing a clearer pathway to diagnosis for patients in Senegal.
Genetic testing can indeed be lifesaving.
In Guediawaye, Fatoumata Binta Sané cares for her daughter Aissata, who has glutaric acidemia type I, an inherited condition that hinders the body’s ability to properly metabolize certain proteins. Aissata, who is reliant on her mother’s constant support, is unable to walk, speak, or sit independently.
In the U.S., newborn screening for treatable genetic conditions is standard practice, unlike in Senegal, where these screenings are not routinely conducted. As a result, healthy-looking infants can be undiagnosed and suffer irreversible harm. Glutaric acidemia type I can lead to severe complications, including brain damage and even premature death.
Sané awaits genetic test results for her one-year-old daughter, Aminata. Early treatment can allow patients to lead full and healthy lives, which may include adhering to a strict diet and taking supplements like L-carnitine. While consultations with Rodriguez are complimentary, the ongoing costs of treatment can be daunting. Should Aminata test positive for the same condition, Sané will require governmental support to afford necessary medications.
Dr. Moustapha Ndiaye, the head of the neurology department at Fann Hospital, aspires for emerging doctors to be equipped to assist patients with rare diseases, not only in Senegal but across Africa.
“Students from all over Africa come here to study,” Ndiaye shared.
Dr. Henriette Senghor recalls her early career when many patients were hospitalized for extended periods, often without a clear diagnosis.
“There was a significant gap,” stated Senghor, who is currently collaborating with Rodriguez.
In 2021, Rodriguez initiated a partnership between Cheikh Anta Diop University in Dakar and the National Center for Genomic Analysis in Barcelona. He collects patient blood samples to be analyzed in Barcelona, contributing vital data to a growing database. His study now includes nearly 1,300 participants from patients and their families focused on rare diseases in West Africa.
Families often travel across borders seeking medical care.
In the Gambia, Fatou Samba’s sons Adama and Gibriel enjoy typical childhood activities like soccer and playing with toys. After Adama began falling frequently, Samba sought a diagnosis in Dakar, where Rodriguez confirmed he had Duchenne muscular dystrophy. Gibriel’s test results are still awaited; this condition often starts with losing the ability to run or climb stairs, ultimately leading to more serious complications.
Both boys are on corticosteroid treatment, which can delay disease progression if initiated early.
“Without the medication, the situation would be dire. After we began treatment, we noticed improvements in just a few weeks,” Samba said, expressing her hope for a cure.
Data collection is a crucial first step.
Back at Fann Hospital, Rodriguez and Senghor meet with Woly Diene and her family. After Diene, 15, began experiencing falls and pain, she lost her hearing and mobility. Diene has riboflavin transporter deficiency—a condition that can be managed with high-dose vitamin B2, a supplement easily accessible through online vendors.
After being diagnosed in August 2023, Diene took her first vitamin B2 dose and has since regained mobility and strength, although some hearing impairment remains. Her brother Thierno acknowledges the high cost of the medication, which Diene will need long-term.
“I am happy,” Diene said, smiling. “I hope to keep improving.”
These efforts benefit patients while also allowing for vital data collection, which is essential for advancing research and policy in rare diseases, according to Lauren Moore, chief scientific officer at the National Ataxia Foundation.
“The most common diseases receive the greatest focus and funding,” she noted. “Data is really the first step.”
A grant of $50,000 from the foundation enables Rodriguez and his team to enroll participants in Senegal and Nigeria with inherited ataxias, leading to serious health challenges.
Although funding from USAID has not yet impacted his research, grants are limited. Rodriguez, Senghor, and Dr. Rokhaya Ndiaye from the University of Dakar are committed to ensuring that genetic testing continues in Senegal.
Global collaboration is essential, underscored Ndiaye, as is the enhancement of local infrastructure.
“The need is palpable,” she expressed. “And we have much hope.”
___
For more on Africa and development: https://apnews.com/hub/africa-pulse
___
The Associated Press receives financial support for global health and development coverage in Africa from the Gates Foundation. The AP is solely responsible for all content. Find AP’s standards for working with philanthropies, a list of supporters and funded coverage areas at AP.org.
Source
www.yahoo.com