昨日是公众并不熟悉的“国际罕见病日”。记者了解到，包括“瓷娃娃”在内的多家公益机构昨日发起“改变从了解开始”的宣传活动，并在中山一院和广州儿童医院开展义诊活动。在活动现场，患者和家属呼吁政府在法律法规和医疗社保体系上完善对罕见病的保障。

Yesterday is the public is not familiar with"The international day for the rare disease".The reporter understands,including"Porcelain doll"Several charity yesterday"Change begins with understanding"The propaganda activities,And in zhongshan hospital and carry out activities in guangzhou children's hospital.In the event,Patients and families, called on the government in the laws and regulations and medical social security system on the protection of rare diseases.

罕见病病例逐年增多 Rare diseases cases increased year by year

　　罕见病，是指流行率很低、很少见的疾病，大部分由基因缺陷所导致，如骨脆症、戈谢病等。同时它在国际上被公认为公共健康问题。近年来，由于国内医疗水平的提升，确诊病例也逐年上升，罕见病人的诊断治疗问题却仍旧困难多多，这也是罕见病家庭的最大困扰。

Rare diseases,Refers to the prevalence rate is very low/Rare disease,Most caused by a defective gene,Such as osteopsathyrosis/Gaucher disease, etc..At the same time, it is recognized as a public health problem in the world.In recent years,Because the domestic medical level of ascension,Confirmed cases also increased year by year,Rare patient diagnosis and treatment of the problem is still a lot of difficulties,This is a rare disease family's biggest problems.

　　邓女士的儿子邹节标今年19岁，6岁时便发现了脾胃肿大的病症，她带着儿子到医院检查后被确诊为戈谢病，一种主要临床表现为脾脏肿大、骨痛和无法正常运动的遗传病。“一开始确诊说是罕见病，我无法相信，当时真感觉天都快塌下来了。”邓女士不忍回忆那一段无助的日子，在没有治疗方法的那段时间，儿子经常痛得无法动弹，连觉都不能睡，12岁时甚至切去了部分脾脏。

Ms deng's son zou's day this year 19 years old,6 years old when he discovered the spleen enlargement,With a son to the hospital, she was diagnosed with gaucher disease after inspection,A major clinical manifestations of the spleen/Bone pain and can't normal movement of genetic disorders."At first diagnosis of rare diseases,I can't believe that,Was really feel days came down quickly."Ms deng to recall that a helpless time,In the absence of treatment during that time,Son often pain, unable to move,Even can't sleep,At the age of 12 and even went to the part of the spleen.

　　所幸的是，邹节标通过红十字会的帮助，得到了外国一家药厂的药物捐赠。“这种药非常贵，一支400毫升就要两万三，我们怎么买得起。”邓女士告诉记者，治疗戈谢病的主要药物是一种进口药，一个月必须要注射六支，根据病患身高和体重的不同，量也会相应地增加。一个戈谢病家庭如果要花钱去购买这些药物，一年的花费至少在一百万以上，而且终生不能停药。虽然儿子得到了药物捐赠，但是数量却是非常有限的。“我们经常要等两到三个月，但是这药一停，他就很容易复发”。记者了解到，戈谢病的患者用药后能和正常人一样生活，一旦停药，复发的几率极大，骨痛得无法动弹，严重的甚至会死亡。

fortunately,Zou section the help by the Red Cross,Got the foreign plant drug donations."This drug is very expensive,A 400 ml to twenty-three thousand,How can we afford."Ms. Deng told reporters,The mainstay of treatment for gaucher disease is a kind of JinKouYao,One must be injection of six months,According to the patient's different height and weight,Quantity will be increase accordingly.A gaucher disease family if you want to spend money to buy the drugs,Spend at least one million more than a year,And life can't stopped.Although the son get drug donations,But the quantity is very limited."We often have to wait two to three months,But the medicine off,He is easy to relapse".The reporter understands,Gaucher disease patients to the medicine and live like a normal person,Once stop drug,The risk of recurrence is great,Bone pain, unable to move,Serious and even death.

　　病患盼纳入医疗社保 Patients are incorporated in the medical and social security

　　张美甜是戈谢病关爱中心的一名义工，同时她也是一位戈谢病患者。今年28岁的她在两年前才确诊为戈谢病，然而，她却无法得到捐赠的药物，她告诉记者：“2009年后确诊的病例，大多都无法得到捐赠的药物。”昂贵的进口药物是治病的关键，达不到捐赠要求的家庭只能自行购买，“几乎没有病患家庭可以承担得起药费”。

Zhang Meitian gaucher disease care center is a volunteer,She is also a patients with gaucher disease.28 for gaucher disease diagnosed in her two years ago,however,But she couldn't be donated drugs,She told reporters:"After 2009 confirmed cases,Most can be donated drugs."The expensive imported drugs is the key to healing,Families can only buy reach donation request,"Almost no patient families can afford expenses for medicine".

　　没有主治的药物，张美甜只能看关节骨科，吃止痛药来缓解病情。“没有药，病情会越来越严重，我的骨头已经开始坏死。”曾经在公司做销售的她，如今转做较为轻松的文职，身体无法长期站立，也无法久坐。“我不知道自己还能工作多久，但我还是会为宣传罕见病的出一份力。”

Not attending,The orthopaedic Zhang Meitian can only look at joints,Eat painkillers to alleviate the illness."No medicine,Condition will be more and more serious,My bones have begun to necrosis."She have in company do sales,Now turn to do relatively easy civilian,The body can't stand for a long time,Also you can't sit for long."I don't know how much longer you can still work,But I will still contribute to promote rare disease."

　　不少帮助宣传的家属表示，他们来这里都是为了呼吁社会的关注，让政府在法律法规和医疗社保体系上完善对罕见病的保障。据悉，国家对于罕见病并没有相关的立法保障，在医疗社保方面，只有少数的省市将其纳入了保障体系。2013年上海市将罕见病纳入医疗保障体系，也只能报销50%的治疗费。记者了解到，美国、日本等国家早就有相关的立法，港澳台地区对这方面的保障制度也让病患得到了巨大的帮助。

Many help propaganda's family said,They come here is to call for attention,Let the government laws and regulations and medical social security system on the protection of rare diseases.It is understood,For rare diseases and no relevant legislation protection,In the medical aspects of social security,To be only a few provinces and cities in the security system.In 2013 Shanghai will be rare diseases in the medical security system,Also only covered 50% of the treatment.The reporter understands,The United States/Japan and other countries have legislation,Hong Kong, Macao and Taiwan regions on this aspect of the security system also let patients get the great help.

　　医生盼国家投入研发 Doctors hope countries on research and development

　　广州儿童医院内分泌代谢科副主任黄永兰是此次义诊的坐诊医生，她告诉记者，国内的医疗水平和资源对于罕见病治疗非常不足：“这类疾病需要跨科诊断，临床表现又没有特异性，小孩和大人的症状又有所不同，不是一下子就能确诊的。”

Guangzhou children's hospital endocrine metabolic Huang Yonglan is deputy director of the division of the free clinic visit doctor,She told reporters,Domestic medical level and resources for treatment of rare diseases is very insufficient:"These diseases need to cross the diagnosis,The nonspecific clinical manifestations and,Symptoms of children and adults is different,It is not can be confirmed."

　　据悉，国内可以治疗罕见病的医院集中在北京、上海、广州和武汉几个大城市，而且只有特定的大医院才有。黄永兰希望国家能够投入研发药物和提高医疗教学水平，以解决依赖进口药和治疗难题。（记者 冯小静 实习生 傅雨）

It is understood,Domestic to treat rare diseases hospital focused on Beijing/Shanghai/Several big cities of guangzhou and wuhan,And only a certain big hospital.Huang Yonglan hope that countries can in drug research and development and improve the level of medical teaching,In order to solve JinKouYao and treatment problem.(The reporter Fu Yu Feng Xiaojing intern)