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 reliably be here she explained 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 Path smiled over an old video clip of their daughter beaming as she celebrated her th birthday with cake and sparklers When the girl was little she loved to play By 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 maximum He persons of interest 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 million people live with rare diseases majority of of them caused by a misstep hidden within their genes Certain conditions can be caught early and treated but in parts of Africa where population content and tools are scarce multiple people go undiagnosed Rodriguez is trying to change that by connecting patients with genetic testing and diagnostic promotion while gathering key evidence from those patients and their families Preponderance rare condition facts 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 commented 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 facts for scientists and clinicians Patients in Senegal are benefiting too with a path to assessment Genetic testing and determination can be life-saving In Guediawaye Fatoumata Binta San 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 San cradles Aissata in her arms constantly and the -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 San is waiting for genetic testing results for Aissata s one-year-old sister Aminata Patients can live long healthy lives if they start medication before the onset of signs 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 cure is not If Aminata shares her sister s affection San will need establishment assistance to buy medication Prof Moustapha Ndiaye head of the neurology department at Fann hopes young physicians will graduate prepared to assist rare malady patients not just in Senegal but in other African countries Students trip from across Africa to inquiry here Ndiaye commented At the start of her career Dr Henriette Senghor saw patients who were hospitalized for months Chosen died and no one knew why There was this difficulty there was this void announced Senghor who s now training with Rodriguez In 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 them to Barcelona where scientists analyze the extracted DNA storing the answers it holds in a large database Almost participants patients and families have enrolled in his assessment of rare condition in West Africa Families cross borders for care In the Gambia Fatou Samba s sons Adama and Gibriel like to play soccer and feed the sheep in their backyard On a up-to-date afternoon they took turns playing with a toy airplane and a globe Adama who hopes to be a pilot pointed to where he needed 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 declared 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 authenticated 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 disorder progression for patients diagnosed early Without the medication it would have been terrible Once we started after a scant weeks we saw improvement Samba disclosed Doctors are destined to investigate the illness and find a cure I pray doctors will find a cure Input is the first step Back at Fann Hospital Rodriguez and Senghor consult with Woly Diene and her mother and brother When Diene was 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 B a supplement available on Amazon can slow stop and even reverse damage from this condition that is fatal without remedy Diene took her first dose when she was diagnosed in August She still has various difficulty hearing but Diene is walking again She has regained the strength in her face and hands Diene s brother Thierno stated vitamin B is expensive but he knows his sister requirements it for the rest of her life I am happy Diene disclosed showing joy I hope to keep improving While efforts like these help patients they also allow doctors to collect input and that s vital for rare condition research plan and drug advancement explained Lauren Moore chief scientific officer at the National Ataxia Foundation The largest part prevalent diseases get the greater part attention and the bulk funding she announced Input really is the first step A grant from the foundation allows Rodriguez and colleagues to enroll inquiry 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 commented Ndiaye and strengthening local infrastructure is just as vital The need is there she disclosed And we have a lot of hope For more on Africa and progress https apnews com hub africa-pulse The Associated Press receives financial advocacy for global healthcare and growth 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