VietNamNet Bridge – When the eight-month-old daughter of Le Thi Mai Huong kept vomiting and crying, she brought her to hospital with the hope of getting a diagnosis and treatment. Difficult circumstances: There are about 450 million people with rare diseases around the world. Yet it took six months and visits to several hospitals for her daughter, Nha Quyen, to be finally diagnosed with urea cycle disorder, a rare genetic condition. “After six months and many hospital visits, I was relieved and happy to know that finally doctors could name my daughter’s disease. My family and I were hopeful that after treatment, she would grow up, go to school and would no longer have to see doctors every week like before,” Huong said. Yet when the doctor explained more about the rare disease and she also researched it by herself, Huong started to understand that the disorder will be present throughout her daughter’s life. Urea cycle disorders are hereditary metabolic disorders caused by a deficiency of one of the enzymes in the urea cycle responsible for removing ammonia from the bloodstream. These disorders represent a substantial cause of brain damage and death among newborns and infants. Life changing: After her… Read full this story
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