Do not think how far away from the rare disease you Hangzhou mother records daughter encounter aizi

Don’t think of rare disease how far is it from your mother Hangzhou record of her encounter "is only the first step in the long march!" In room 8, building rehabilitation Children Hospital of Zhejiang University, 61 year old Zhao Mei holding the granddaughter of cocoa sighed. Since cocoa was diagnosed with a rare disease, Rett syndrome (Rett Sydrome, a genetic disorder caused by mutations in the nervous system), she often said it. Now 18 month old cocoa at first glance, and there is no difference between the children of the same age. But mother Qu Yingying know, cocoa is too special, and her life will be full of thorns. It is estimated that the world’s current record of nearly 7000 rare diseases, the total prevalence of rare disease in China is about 16 million 440 thousand. Seeking survival state so many "cocoa" who, in urgent need of social concern and change. Why is it that every year tens of thousands of babies are born in Hangzhou? 35 year old Qu Yingying in 2015 Lunar New Year’s Eve gave birth to her daughter, the family happy, especially retired grandparents, offered to take the child, and even his daughter received a home. Qu Yingying recalled, cocoa 11 months old when no longer play toys like before, do not listen to the instructions of the adults, the outside world did not respond to the stimulus, the original is learning to climb and go hobby, but also gradually disappeared. At first, they thought it was autism. But repeated several times after the examination, the doctor told the son Qu Yingying is likely to be a rare disease (according to the definition of WHO, suffering from disease or disease accounted for 0.65 of the total population of between 1 per 1000% of the number of patients): Rett syndrome. That is the first time in the life of Yingying heard this word, this is what disease? She searched the authority of Rett syndrome: Rett is a rare type of neurodevelopmental disorders, most of the sporadic mutations in the MeCP2 gene, almost only against women, with severe weakness and disabling injury, involving serious mental retardation. At present, there is no complete cure of the disease, which can be treated by expectant treatment and rehabilitation training. About 1/10000 of the probability of illness, the patient can not take care of themselves, the loss of the function of the hands of the 99%, the 99% will never be able to speak, with epilepsy, with a spinal scoliosis, the 50% will never be able to walk on the 75%, 64%…… Looking at the information, Qu Yingying has always been unable to believe: when the inspection of the production of a decline, her husband and she are in good health, Hangzhou, 2015, tens of thousands of newborns, why is my daughter? For insurance purposes, the doctor suggested that she go to Beijing to find a package of Xinhua doctor confirmed that the doctor is a doctor Rett syndrome authoritative experts. At that time 11 years of retirement grandmother granddaughter to return to the workplace earn medical expenses waiting for the diagnosis of cocoa, began to appear serious sleep disorder, very difficult to sleep, needs a quiet environment, even after a sleep can wake up and could not sleep. So, the whole family with insomnia. In March this year, Qu Yingying and her husband holding cocoa all the way north. On the same day, she simply wrote in her diary: "Friday, March 18th,.相关的主题文章: