据中国之声《央广新闻》报道，根据报道，目前我国罕见病患者有75%治疗不规范，44%存在误诊。

According to the voice of China[Epicenter wide news]reports,According to the report,At present, China's rare disease treatment is not standard 75%,44% misdiagnosis exists.

　　我国将患病率低于50万分之一的疾病统称为罕见病，大部分人都会觉得非常陌生，这其中最常见的大是白化病。罕见病80%都是由遗传缺陷所导致的，而且目前全球范围内已经确认的罕见病的病种有5千多种，占到人类总疾病的10%左右，在我国罕见病患者已经达到1680万。

China will prevalence is less than of a disease referred to as a rare disease,Most people will feel very strange,This is one of the most common large albinism.80% rare diseases are caused by genetic defects,And now worldwide more than 5000 kinds of rare diseases of plants have been identified,Accounted for about 10% of the total human disease,In the rare diseases in China has reached 16.8 million.

　　来自北京医学会罕见病分会的消息，目前有44%的罕见病存在着误诊，75%的罕见病治疗不规范，因为罕见病有一半的患者在一出生或者是儿童时期就会发病，但是由于罕见病涉及到了血液、骨科、神经、呼吸以及重症等多个学科，所以确诊非常困难，有的罕见病的患者要辗转5到10位医生，最长的时间可达30年才能够确诊，而且目前由于不少医生对于罕见病的认知有限，误诊和漏诊也经常发生。而且目前只有不到1%的罕见病存在有效的治疗方法，绝大多数是没有特别有效的治疗方法，除了治疗方法很少之外，我国罕见病治疗也存在着治疗药品少，而且因为患病人数相对大病来说比较少，所以药品从国外进口的时候就缺乏动力，而且药品非常昂贵，支付渠道比较困难，再加上社会认知度也会比较低，北京医学会会长表示，如果罕见病防治要很顺利的进行还需要健全的法规体系以及一些激励体系，而且还需要一些活跃的民间团体的力量才能够帮助罕见病患者走出困境。

News from rare diseases branch of the Beijing medical association,44% of rare diseases exists misdiagnosis,75% of rare diseases treatment,Because half of the rare disease patients in a birth or a childhood disease,But due to the rare diseases involving the blood/The orthopaedic/nerve/Respiratory and intensive, and many other disciplines,So diagnosis is very difficult,Some rare diseases to five to 10 doctors and patients,The longest time can be up to 30 years before it can be confirmed,And there is limited knowledge due to many doctors for rare diseases,Misdiagnosis and missed diagnosis are often happen.And there is less than 1% of the rare disease there are effective treatments,The vast majority of is not particularly effective method of treatment,In addition to treatment is rarely,Rare diseases in our country there are drug treatment,And because the number of cases are relatively less serious illness,So drugs imported from abroad, lack of motivation,And the drug is very expensive,It is difficult to pay channels,Plus social awareness also will be lower,Beijing medical association says,If rare disease prevention needs to be done very well need some sound laws and regulations system and incentive system,But also need some active power of civil society organizations can help rare patients out of the woods.

　　瓷娃娃罕见病关爱中心是一家专门为成骨不全症患者提供帮助的协会，发起人是一名28岁的漂亮女孩儿，她也是一名成骨不全症患者，在28年的时间里经受了6次骨折，但她在全国10万名成骨不全症患者当中已经是名幸运儿，因为有的人打个喷嚏都会骨折。

Porcelain doll care center is a rare disease to help patients with osteogenesis imperfecta association,The promoter is a 28 year old beautiful girl,She is also a patients with osteogenesis imperfecta,In 28 years endured six fractures,But she is in the midst of the 100000 patients with osteogenesis imperfecta has is a lucky dog,Because someone sneezes will fracture.

　　由于罕见病是指发病率在千分之0.65到千之一之间的疾病，所以很多人并不了解，认为离普通人的生活非常遥远，但是中国医学科学院基础医学研究所研究员认为不能因为罕见就忽略，隐形遗传病可能存在每一个人的家中，忽视罕见病患者就是忽视自家将来的孩子。(记者李欣)

Due to the rare incidence of disease is to point to between 0.65 per thousand and thousand of disease,So a lot of people don't know,Believe that ordinary people live very far away,But Chinese academy of medical sciences, institute of basic medical researchers believe that cannot be ignored because it is rare,Invisible hereditary disease may be at risk for each and every one at home,Rare diseases is ignore their children in the future.(The reporter li xin)