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 inevitably be here she mentioned 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 quota He individuals 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 the greater part of them caused by a misstep hidden within their genes Specific conditions can be caught early and treated but in parts of Africa where population records and tools are scarce plenty of people go undiagnosed Rodriguez is trying to change that by connecting patients with genetic testing and health help while gathering key statistics from those patients and their families Majority of rare syndrome records 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 reported 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 details for scientists and clinicians Patients in Senegal are benefiting too with a path to evaluation Genetic testing and evaluation 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 medicine before the onset of characteristics 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 healing is not If Aminata shares her sister s condition San will need administration assistance to buy medication Prof Moustapha Ndiaye head of the neurology department at Fann hopes young physicians will graduate prepared to assist rare ailment patients not just in Senegal but in other African countries Students passage from across Africa to examination here Ndiaye commented At the start of her career Dr Henriette Senghor saw patients who were hospitalized for months Specific died and no one knew why There was this trouble there was this void stated 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 inquiry of rare malady 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 contemporary afternoon they took turns playing with a toy airplane and a globe Adama who hopes to be a pilot pointed to where he yearned 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 commented 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 proven 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 complaint progression for patients diagnosed early Without the medication it would have been terrible Once we started after a limited weeks we saw improvement Samba stated Doctors are destined to investigate the malady and find a cure I pray doctors will find a cure Content 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 therapy Diene took her first dose when she was diagnosed in August She still has a few difficulty hearing but Diene is walking again She has regained the strength in her face and hands Diene s brother Thierno disclosed vitamin B is expensive but he knows his sister requirements it for the rest of her life I am happy Diene declared displaying cheer I hope to keep improving While efforts like these help patients they also allow doctors to collect evidence and that s vital for rare malady research procedures and drug improvement revealed Lauren Moore chief scientific officer at the National Ataxia Foundation The majority prevalent diseases get the greater part attention and the greater part funding she revealed Statistics really is the first step A grant from the foundation allows Rodriguez and colleagues to enroll research 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 revealed Ndiaye and strengthening local infrastructure is just as vital The need is there she mentioned And we have a lot of hope For more on Africa and progress https apnews com hub africa-pulse The Associated Press receives financial sponsorship for global fitness and enhancement 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