Mariama, 13, died of rare disease – could have been saved
Doctor Pedro Rodriguez Cruz’s initiative to map rare diseases in Africa began with a specific case, writes AP. A 13-year-old girl named Mariama Lam in Senegal.
She was happy and loved to move as a child. But by the time she turned 13, her muscles weakened and her spine twisted and stiffened. She had increasingly difficulty breathing.
When her parents took her to the hospital in the city of Dakar, Rodriguez Cruz measured her lungs and suspected that Mariama had a muscular dystrophy that caused serious breathing problems. A new machine that helps with breathing could have helped, but it was too late and Mariama died, the family tells the AP.
Now Pedro Rodriguez Cruz has started a map of rare diseases in Africa so that they can be diagnosed earlier, and so that children like Mariama can survive.
Doctor Pedro Rodriguez Cruz’s initiative to map rare diseases in Africa began with a specific case, writes AP. A 13-year-old girl named Mariama Lam in Senegal.
She was happy and loved to move as a child. But by the time she turned 13, her muscles weakened and her spine twisted and stiffened. She had increasingly difficulty breathing.
When her parents took her to the hospital in the city of Dakar, Rodriguez Cruz measured her lungs and suspected that Mariama had a muscular dystrophy that caused serious breathing problems. A new machine that helps with breathing could have helped, but it was too late and Mariama died, the family tells the AP.
Now Pedro Rodriguez Cruz has started a map of rare diseases in Africa so that they can be diagnosed earlier, and so that children like Mariama can survive.
Many die without diagnosis – investment to save lives
350 million people in the world have rare diseases. But in parts of Africa, where the lack of statistics and resources is widespread, many live without diagnoses. Researcher Pedro Rodriguez Cruz wants to change that, reports the AP.
Many of all rare diseases are due to mistakes in gene formation, most are discovered early in life and others not at all. But much of the global research that has been done is based on European genetic material, which means that there is limited knowledge about other parts of the world and especially Africa, says Rodriguez.
In his collaboration with institutions in several countries, Rodriguez collects blood samples at hospitals in Senegal and Nigeria, which are then sent to a laboratory in Barcelona where the DNA is analyzed. It is used to map diagnoses. So far, 1,300 people have participated in the study in West Africa.
– The need is there, and we have plenty of hope, says researcher Rokhaya Ndiaye, who is also involved in the study.
350 million people in the world have rare diseases. But in parts of Africa, where the lack of statistics and resources is widespread, many live without diagnoses. Researcher Pedro Rodriguez Cruz wants to change that, reports the AP.
Many of all rare diseases are due to mistakes in gene formation, most are discovered early in life and others not at all. But much of the global research that has been done is based on European genetic material, which means that there is limited knowledge about other parts of the world and especially Africa, says Rodriguez.
In his collaboration with institutions in several countries, Rodriguez collects blood samples at hospitals in Senegal and Nigeria, which are then sent to a laboratory in Barcelona where the DNA is analyzed. It is used to map diagnoses. So far, 1,300 people have participated in the study in West Africa.
– The need is there, and we have plenty of hope, says researcher Rokhaya Ndiaye, who is also involved in the study.
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