世界卫生组织将罕见病定义为患病人数占总人口的0.65%～1%之间的疾病或病变。按此推算，中国共有各类罕见病患者约1500万，甚至更多。因为“罕见”，这些患者被忽视甚至放弃，他们只能在人群中寻找相似的患者“抱团取暖”。

The world health organization (who) defines a rare disease with patients accounted for 0.65% ~ 1% of the total population between disease or pathological changes.Click here to calculate,In China there are about 15 million kinds of rare diseases,Even more.Because of the"rare",These patients are neglected and even give up,They can only find similar patients in the crowd"bulk".

　　2月29日定为国际罕见病日，由于每四年才出现一次，寓意罕见。如果没有29日，将每年2月的最后一天定为国际罕见病日，也是罕见病患者们对外呼声最高的一天。

February 29 as the international day for the rare disease,Because only occur once every four years,The moral is rare.If there is no. 29,Will be the last day of February every year as the international day of rare diseases,Is a rare disease are foreign most a day.

　　今年国际罕见病日的主题是，改变从了解开始。

Is the theme of the international rare disease day this year,Change begins with understanding.

　脆弱的“蝴蝶宝贝”们 The fragile"The butterfly baby"the

　　任文莉说，由于医生认知水平有限，很多“蝴蝶宝贝”要辗转5到10位医生才能确诊，有的可能一辈子都没有确诊的机会。

Ren Wenli said,Since the cognitive level is limited,A lot of"The butterfly baby"After 5 to 10 doctors to diagnose,Some opportunity of a lifetime are not confirmed.

　　2001年，好好一出生就被直接送到了重症监护室，原因是下体无皮肤。任文莉再见到女儿的时候，她已经6个月了。

In 2001,,Was born to be directly sent to the intensive care unit,Reason is no skin to uncover her nakedness.Ren Wenli see daughter again,She had 6 months.

　　6个月里，孩子被不停地送进河南省郑州市各大医院会诊、检查，但没有人能给出结论。

In 6 months,Children are constantly sent to henan province zhengzhou city each big hospital consultation/check,But no one can give a conclusion.

　　任文莉忍不住了，请在美国的亲戚帮忙。

Ren Wenli couldn't help it,Please my relatives in the United States for help.

　　最终，好好被国外的医院确诊为罕见病——大疱表皮松解症。

In the end,Good by foreign hospital diagnosed with a rare disease - bullosa epidermolysis disease.

　　这种病让患儿的皮肤和眼睛黏膜组织，在受到轻微摩擦或没有明显原因的情况下，发生水疱或血疱，产生创伤溃烂。患儿的皮肤会反复受伤，越来越脆弱。

This illness to the patient's skin and eye mucous membrane tissue,By slight friction or without apparent reason,Blood blisters or blister,Traumatic ulcers.Children with skin will hurt over and over again,More and more fragile.

　　这类孩子被称为“蝴蝶宝贝”，因为他们的皮肤像蝴蝶翅膀一样脆弱。

This type of children is called"The butterfly baby",Because their skin is as fragile as the butterfly wings.

　　6个月后，好好出院了。医生告诉任文莉，孩子可能活不过两岁，并且没有给出具体治疗意见，只说不要让孩子感染。

After 6 months,A good hospital.The doctor told Ren Wenli,Children may survive two years old,And there is no specific treatment,Only say don't let children infected.

　　初次见到好好，好好不停地冲妈妈晃动着手脚。任文莉这才发现，由于护理不当，好好的手指、脚趾都粘连在一起，只剩一个小拳头。

Meet a good,Good constantly rushed mother shaking hands.Ren Wenli was found,Due to improper care,A good finger/Toes are glued together,Only a small fist.

　　把好好接回家的头两年，任文莉几近崩溃。

Take a good home for the first two years,Ren Wenli near-collapse.

　　没人告诉任文莉如何护理一个“蝴蝶宝贝”，好好的病情每天反复，她只能看着女儿的皮肤伤口，好不容易结痂后，又因为微小的动作破裂，并再次重新愈合。

Nobody told Ren Wenli how care"The butterfly baby",Good condition every day over and over again,She only looked at her daughter's skin wounds,Very not easy scabbed-over,Because small movements broke down again,Again and again to heal.

　　任文莉只能在孩子忍受病痛折磨时，总结着经验。

Ren Wenli only when children are endure suffering,To sum up the experiences of the.

　　今年，好好12岁了，任文莉建立的QQ群也从最初的几十人增长到近300人。

This year,Well at the age of 12,Ren Wenli build QQ group from an initial dozens of men grew to nearly 300 people.

　　但全国一共有多少蝴蝶宝贝，任文莉说不出来，她说，很多患者由于医生认知水平有限仍被误诊，有的患者要辗转5到10位医生才能确诊，有的可能这辈子都没有确诊的机会。

But the country how many butterflies are there baby,Ren Wenli said not to come out,She said,Many patients due to limited level of doctors cognition misdiagnosed,Some patients after 5 to 10 doctors to diagnose,Some chance in this life are not confirmed.

　　这是罕见病患者普遍面临的现状。

This is a rare disease commonly facing the status quo.

　　让人欢喜让人忧的“孤儿药” Let a person glad to sorrow"Orphan drug"

　　医生知道怎么治疗，有效的药物也已经进口到国内了，但病人就是吃不起，只能在希望中再次绝望。

The doctor knows how to treat,Effective drug have been imported into the domestic,The patient is to eat,Only in the hope in despair again.

　　黄欢是2005年被确诊为特发性肺动脉高压的，但她没有立刻开始治疗，“国际有药，但国内没有”，黄欢说由于罕见病患者少、市场需求少、研发成本高，很少有制药企业关注这类治疗药物的研发，致使很多患者只能面临选择昂贵的进口药或者无药可用。

Huang Huan was diagnosed with idiopathic pulmonary arterial hypertension in 2005,But she didn't immediately start treatment,"International have medicine,But not at home",Huang Huan said due to the rare disease/The market demand less/Research and development cost is high,Few pharmaceutical companies have focused on research and development of this kind of treatment,Make many patients can only choose expensive JinKouYao or no drugs available.

　　没有药就只能等，黄欢心里清楚，肺动脉高压患者的平均寿命只有2.8年。在等药的过程中，很多熟悉的病友已经相继去世。

No medicine can only, etc,Huang Huan know,Pulmonary hypertension in patients with an average life expectancy is only 2.8 years.In the process of drug, etc,A lot of familiar patients have died.

　　黄欢每天依旧照常上班、下班、出差、加班，但她越来越虚弱，时常感觉胸痛或心跳加速，甚至每走几步都要停下来休息。

Huang Huan still as usual to work every day/after work/On a business trip/To work overtime,But she is more and more weak,Often feel chest pain or palpitations,Even every walk should be stopped to have a rest.

　　去复查时，医生也只能叮嘱她注意休息，避免感冒，多吸氧，药也是一些基础性式治疗。

When I went to review,The doctor only told her to pay attention to rest,Avoid getting a cold,More oxygen,Medicine is also some basic therapy.

　　2006年，黄欢在经历过一次长达8分钟的昏厥后，用上了刚刚在中国上市的进口药。

In 2006,,Huang Huan after an eight minute after fainting,Using the JinKouYao just listed in China.

　　但这种药，一个月的价格高达两万余元。黄欢勉强吃了半年，因为承担不起高昂的医药费，只能减少药量。

But this kind of medicine,Price is as high as twenty thousand yuan a month.Huang Huan barely ate half a year,Because can't afford high medical bills,Can only reduce the quantity.

　　后期，黄欢产生了抗药性，病情愈加严重。

In the late,Huang Huan resistant,More and more serious illness.

　　但黄欢是个幸运儿，一名熟悉的病友为她提供了肺移植的手术信息。

But Huang Huan is a lucky dog,A person familiar with the patients provides a lung transplant surgery for her information.

　　去年，她成功接受了肺移植手术，有了生的希望。

Last year,,She received a lung transplant success,With the born of hope.

　　手术后，黄欢还要终身服用抗排异药物，这个药费不能报销，每个月费用高达5000元。沉重的负担又重新压回到她的身上。

After the operation,Huang Huan to take anti-rejection drugs for life,This drug cannot submit an expense account,Cost is as high as 5000 yuan every month.Heavy burden pressure again returned to her.

　　根据国家相关政策，肝肾移植可以享受报销，但由于心肺移植手术相对较少，还没有纳入政策中。

According to the relevant national policy,Liver and kidney transplantation can enjoy for reimbursement,But as a result of heart and lung transplant are relatively few,Has not yet been incorporated into the policy.

　　黄欢大概算了算，从患病到完成手术，已经花费了近百万元。

Huang Huan probably calculated,From the sick to perform operations,Has spent nearly ten thousand yuan.

　　黄欢期待罕见病立法的出台，她不希望自己有生的希望，却因为药价昂贵而放弃治疗。

Huang Huan expect legislation of rare diseases,She doesn't want his hope in my life,But because the price is expensive and give up treatment.

　因了解而改变 Change because of the understanding

　　李嘉想让更多的人了解她的孩子，因为只有了解了，才能知道罕见病患者的需要，才能改变他们的生活环境。

Li want to let more people know about her children,Because only understand,Will need to know the rare disease,To change their living environment.

　　安安今年三岁零一个月，直到最近，安安的妈妈李嘉才希望孩子的病情被人了解。

In three years and one-month this year,Until recently,In peace mother Li Jiacai hope children was understood.

　　安安出生前，李嘉只盼望孩子健健康康、平平安安，但事与愿违。

Born in peace,Li all look forward to a healthy boy/Go in peace,instead.

　　2011年10月7日，李嘉永远记得这一天，医生说安安活不过十岁，安安被确诊为RETT综合征。

On October 7, 2011,Li always remember this day,The doctor said to live in peace but at the age of ten,In was diagnosed with RETT syndrome.

　　这是一种严重影响儿童精神运动发育的疾病，并且只有女孩发病。

This is a serious diseases affect children's spiritual movement development,And only girl.

　　安安在一岁四个月时就表现出一些症状：她不玩玩具，不理人，只站在窗前看摇动的树叶，这是RETT综合征的第一阶段病症，与自闭症相似。

In in the first four months old, showing symptoms:She doesn't play with toys,Talk to people,Only stand at the window watching moved the leaves,This is the first stage of RETT syndrome symptoms,Similar to autism.

　　但随后的发展与自闭症有所区别。

But the subsequent development and autism.

　　李嘉记得安安的最后一个手部动作是用手指头捏着葡萄干，那时安安只有一岁十一个月。

Li remember in the last hand movements is to use fingers to pinch the raisins,At that time in 11 months of age only.

　　李嘉只能眼睁睁地看着孩子一点点地丧失手部功能。

Li watched children a little loss of hand function.

　　慢慢地，她可能会出现癫痫、呼吸困难、吞咽困难直至死亡。

slowly,She might have seizures/Difficulty in breathing/Dysphagia until death.

　　这个病被命名只有30多年，李嘉觉得最大的障碍是从医生到患者都不了解病情，即使给安安确诊的医生也不是很了解情况。

The disease was named only 30 years,Li felt that the biggest obstacle is from doctors to patients don't know about his condition,Even if is confirmed to be a doctor is not very understanding.

　　直到现在，这个病依然病因不详，也无药可治，但李嘉仍怀着希望。

Until now,,The disease is still the cause is unknown,Also no cure,But li is still with hope.

　　在家，她给安安创造了一切能让她快乐的条件，安安想看书，李嘉就把书递到安安面前，安安想跳舞，李嘉就拉着她的手，左右摇摆，连安安多笑两声都让李嘉有盼头。

In the home,Her to create conditions of everything to make her happy in peace,Want to read in peace,Li was handed the books to the in front,In want to dance,Li took hold of her hand,From side to side,Even in two loud laugh let Li Jiayou hope.

　　在外，她也想让更多的人了解她的孩子，因为只有了解了才能知道罕见病患者的需要，才能改变他们的生活环境。

outside,She also wants to let more people know about her children,Because only understand the need to know the rare disease,To change their living environment.

　　即使没有药，李嘉觉得通过一年的康复训练，她能够看到安安的进步和她绽放在眼神里的笑容。

Even if there is no medicine,Li felt by rehabilitation training for a year,She could see in the progress of the bloom in the look in her eyes and smile.

　　她想让自己的安安，好好活着。 (记者侯雪竹)

She wants to be,A good living. (Reporter hou XueZhu)