The doctor diagnosed her 30 year health – Sohu poper

The doctor diagnosed her at the end of 30 – Sohu health when she was six years old, her posture was suddenly changed — on the toes to walk, she opened a long road to medical treatment. Over time, she began to appear in other mysterious symptoms, including foot pain, lower limb weakness, arm weakness and periodic voice; when walking, her knees will stick together, toes curled up on the feet below the age; she even simple things to do. From the age of nine, she received four Department of orthopedics operation to extend the heel tendon; neuroscientists were also the brain and spine magnetic resonance imaging (MRI) for her, but failed to diagnose the cause; when she was 30 years old, a doctor suggested it might be cerebral palsy, and later she was diagnosed hereditary spastic paraplegia. But none of these diagnoses have a positive answer. Now, at the age of 40, she is the mother of the two boys. "I just want to know exactly what’s wrong with me, but no one can tell me," she said." Eventually, in 2012, she took part in an experiment at the University of North Carolina-Chapel Hill, where scientists sequenced the blood samples. After 30 years of waiting, finally her origins of disease: GCH1 gene mutation The case is entirely cleared. The mutation meant she would drugs on a named levodopa response, the drugs for brain dopamine, to help patients with Parkinson’s disease. Taking the drug for three days, she felt her toes can be stretched, two months later, she finally could in no one to accompany the situation into the consulting room. Her name is Elizabeth Davis, the disease is a rare disease. A rare disease is a disease with a very low incidence. Orphan disease". According to the WHO (WHO) definition of rare disease prevalence accounted for 0.65 of the total population of 1000 -1% of the disease. At present, the world has recognized the rare disease of about 6000 to 7000 species, accounting for about 10% of human diseases. According to Global Genes statistics, about 350 million people around the world suffer from rare diseases, half of them children, about 80% of the genetic diseases. According to reports, the domestic rare disease patients before diagnosis, more than 30% of the patients to see a doctor 5-10, 44% patients were misdiagnosed, with early symptoms appear to need 5 to 30 years after diagnosis, many patients have been misdiagnosed for a long period of time, or even misdiagnosis. The diagnosis of rare diseases may require several generations of effort. Patients with rare diseases are not only suffering from the disease, because they can not afford expensive medical expenses, so that the whole family overwhelmed. In addition, more misdiagnosis and missed diagnosis, the current status of rare disease is quite serious. Rare disease has become an urgent social vulnerable groups. Families of patients with rare diseases have to pay a considerable price, need to cause the attention of the whole society and the national level.相关的主题文章:

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