in the current rare disease work difficult, there is such a group of people who are willing to stand up and walk in the forefront. They actively cooperate with medical treatment, to assist the doctor patient management group, so that the doctor of clinical research; they represent patient groups to positive voice, calling for legitimate medical security rights; they encountered disease in the group is actively running for their help, they also bear the psychological haze of evacuation; science education of the public, so that more people understand and pay attention to this group of rare but real people. China’s rare disease organization. In this article, we introduce you to the rare disease organization, the association of methyl malonate.
Yuan Ming is my son babe in 2008, family members of patients, diagnosed with methylmalonic aciduria (Methylmalonic academia, MMA), motor nerve and nerve are affected. Yuan Ming said that the child at birth, there have been some symptoms, but due to lack of experience in neonatal care, did not attach importance to the child’s attention. In 2007, the child falls into a coma for long time, the doctor was removed, children can not be diagnosed through information, misdiagnosed as cerebral palsy, eventually diagnosed in 2008.
in children before the illness, Yuan Ming knows little about the rare disease groups, but that the child’s condition, had a few days up to search mmachc news, for their catching the disease knowledge, by all means to treat the child.
currently rely on family nursing baby son, can not go to school. The more serious situation is that because of the disease is a metabolic disease, Beibei’s diet also needs special treatment. For MMA patients with imported eating expensive, cans of milk per month about 400 yuan, while the baby will need at least five cans of milk powder, the Yuan Ming economic situation poses great pressure.
Yuan Ming said, methylmalonic aciduria patients and families are faced with tremendous economic pressure, because the development of the diet of the patients and the particularity of the disease, the patient’s life can not take care of themselves, often rely on the parents of a full-time care at home, so the family’s economic sources are also affected.
subsequently, Yuan Ming talked about the establishment of the original intention of the MMA association. He said, because the baby had been misdiagnosed, he experienced a long period of confusion and helplessness, so he hopes MMA patients can take some detours, as soon as possible to get accurate diagnosis, and because of the particularity of metabolic diseases, treatment of patients without delay, so he also encouraged to join the patients and their families to MMA the association can share medical experience.
currently, MMA association has 7 QQ group online, the sum of the total number of more than 4300 people; in addition, MMA association has its own official WeChat. MMA core members of more than ten people, all patients or relatives of patients, the main content of the work around the patient support, experience sharing, joint treatment;