“推动政府在罕见疾病领域的政策出台”——在瓷娃娃罕见病关爱中心的工作目标中，这是一项重要的内容。2009年2月，瓷娃娃罕见病关爱中心联合5家罕见病组织发起征集《呼吁尽快为罕见病立法》两会提案网络签名。此后，每年的两会，瓷娃娃罕见病关爱中心都会通过人大代表和政协委员提出建议。

"To promote the government policy that rare disease areas"- in porcelain doll rare disease care center in the target,This is a important content.In February 2009,Porcelain doll rare disease care center joint five rare disease launched solicitation[As soon as possible for rare disease called for legislation]Two meetings proposal network signature.Since then,The two meetings every year,Porcelain doll rare disease care center will be through the National People's Congress's political consultative conference (CPPCC) and put forward the proposal.

　　罕见病诊断难，治疗更难。由于每个病种患病人数相对较少，医务界和全社会对其了解较少，容易被忽视，绝大多数患者被长期漏诊误诊；罕见病“范围及诊疗规范等标准”尚未界定和制定，使得患者筛查、治疗困难；加之包括三甲医院在内的相当多的医院都缺乏必要的罕见病检测设备，绝大多数罕见病患者无法确诊。

Rare disease diagnosis difficult,Treatment more difficult.Since each disease illness relatively few number,YiWuJie and the whole society to understand its less,Easy to be ignored,The vast majority of patients were misdiagnosed as missing for a long time;Rare disease"Range and diagnosis and treatment standard standard"Has not been defined and formulation,Can make patients screening/Treatment difficulty;Together with including 3 armour hospital, quite a number of hospital are lack of necessary rare disease testing equipment,The vast majority of rare disease cannot be diagnosed.

　　据悉，世界上有罕见病6000多种，包括玻璃人、血友病、肺动脉高压、法布雷病、肺淋巴管平滑肌瘤、渐冻人等等。因为得病人数较少，多数国家的制药企业都不愿意开发治疗这些病的药，只有1%的罕见病有有效药，所以把罕见病用药称作“孤儿药”。哪个国家有孤儿药问世，全世界都要进口，又形成世界性的独家垄断，药价高得离谱，一年十几万元二十几万元甚至更多。

It is reported,The world has more than 6000 kinds of rare disease,Including glass people/hemophilia/Pulmonary hypertension/Method mining disease/Pulmonary lymphatics leiomyoma/Gradually frozen people and so on.Because the number of sick less,Most countries pharmaceutical enterprise are not willing to treat these disease development of medicine,Only 1% of the rare disease have effective medicine,So the orphan drugs called"Orphan drug".Which country has the advent of orphan drug,The world has to import,And form worldwide exclusive monopoly,Impossibly high prices,A year several hundred thousand yuan more than 20 ten thousand yuan or more.

　　我国罕见病的对症药品基本均依靠进口，价格昂贵。进口后，不补充进《医保药品目录》，医保不给报销，很多患者无力承担。在得不到对症药品的情况下，患者用于日常治标治疗的医疗费用中，自费支出部分也较高，已参加医保的患者都感到艰难，未进医保的患者更甚，许多患者选择放弃治疗。

China rare disease suit medicine basic all rely on imports,expensive.After import,Don't added into[Catalog of medicines and medical insurance],Health care not to submit an expense account,Many people cannot afford.In not suit drug cases,Patients used for everyday take temporary solution treatment in medical expenses,At one's own expense expenditure part also higher,Already medicare patients feel difficult,Not into the health care of the patients more very,Many patients choose to give up treatment.

　　目前，医保用药目录是针对大多数人的常见病、大病制订的，而治疗罕见病的药品则不包括在内。

At present,Medical insurance drugs directory is for most people's common diseases/For a serious illness,And for a rare disease drug is not included.

　　一位叫“老二丫”的河北网友说，他患了一种罕见病——肺动脉高压，有疗效的进口药“全可利”医保规定不报销，他三个月的药费就要5.8万元，常年吃下去一年就20多万元。肺动脉高压现在还无法治愈，只能用药控制病情。

A call"Second ya"The hebei net friend said,He had a rare disease, pulmonary hypertension,Curative JinKouYao"All but the"Medical insurance provisions do not submit an expense account,He was three months of expenses for medicine will be 58000 yuan,Perennial eat down a year more than 20 ten thousand yuan.Pulmonary hypertension is still cannot be cured,Can drug control condition.

　　世界上有很多国家都制定和出台了有关罕见病的法律法规，为罕见病患者获取医疗援助和社会保障提供了法律依据。近年来，在全国两会和地方两会上不断有关于罕见病问题的建议和提案，这些建议和提案涉及尽快制定罕见病定义、建立国家罕见病医疗保障体系、开展罕见病患者医疗救助、制定《罕见疾病防治法》等。其中一些建议已经或正在被相关部门、地方政府接受和采纳，一些地区也对某种或某几种罕见病的医疗和社会保障进行了有益尝试并初见成效。但是全国范围内的罕见病医疗保障体系建设工作推进仍然比较缓慢。

There are a lot of countries in the world are formulated and issued a rare disease related laws and regulations,For rare patients get medical aid and social security provides a legal basis.In recent years,In the national two meetings and place on the CPPCC constantly about rare disease problem Suggestions and proposals,These Suggestions and proposals for rare disease definition in as soon as possible/The establishment of a national rare disease medical security system/In a rare disease medical assistance/make[The prevention and control of rare disease], etc.Some of the recommendations have been or are being related departments/The local government to accept and adopt,Some areas for a certain or certain rare disease medical and social security on the beneficial attempt and produced results.But all across the country, within the scope of the rare disease medical security system construction work propulsion is still slow.

　　很多医学专家也在各种场合利用各种机会进行呼吁，上海市肺科医院肺血管病诊治中心荆志成教授就是其中一位。

Many medical experts also in various occasions advantage of all kinds of opportunities are called for,Shanghai pulmonary hospital pulmonary vascular disease diagnosis and treatment center JingZhiCheng professor is one of them.

　　荆志成说，公众对白血病、尿毒症等疾病关注度很高，现在国家也已经把很多诸如此类的疾病，包括癌症都纳入了医保，但对罕见病的关注却很少。实际上，一些进入到国家医保的疾病，即便全部免费治疗，如果愈后不能得以改善，也不能延长病人的生命。比如肺癌，即便免费治疗寿命也很有限，但肺动脉高压患者只要治疗就能活下去，越正规的治疗越能延长病人的生命，且生命质量很高，但如果没有得到及时的治疗，他们通常只有两三年的生命。

JingZhiCheng said,Public to leukemia/Uremia disease such as high attention,Now the country has put a lot of such disease,Including cancer were included in the medical insurance,But for rare disease but little attention.In fact,Some into the national health care disease,Even if all free treatment,If the can't be improved,Also cannot prolong the patient's life.Such as lung cancer,Even if free treatment life is also very limited,But pulmonary hypertension patients as long as treatment can live,The more the more normal treatment can prolong the patient's life,And the life quality is very high,But if there is no get timely medical treatment,They are usually only two or three years of life.

　　荆志成说，由于我国至今没有针对罕见病群体制定相关的法律来保护其基本权益，而肺动脉高压患者还不像成骨不全症患者那样具有肢体残疾或明显的外在特征，也无法按照残疾人的待遇享受社会关爱和政策照顾。

JingZhiCheng said,Because our country has not been rare disease group to formulate relevant laws to protect the basic rights,And pulmonary hypertension patients don't like osteogenesis imperfecta patient as a physical disability or apparent external characteristics,Cannot, in accordance with the treatment of disabled people enjoy social care and policy to take care of.

　　尽管进展缓慢，但荆志成毫不气馁，他表示只要有机会，就会继续为病人的权益呼吁，因为只有制度保障才能给更多病人带来生的希望。 本报记者 朱丽亚

Although the progress to be slow,But JingZhiCheng not discouraged,He said that as long as have a chance,Will continue to the rights and interests of patients calls for,Because only system security can give more patient brings the hope of life. Our reporter Julia