Rare voices · Letter 03 of 12

A Letter to Amy from Zhao Na, Parent of a Child with Mitochondrial Encephalomyopathy

A Letter to Amy from Zhao Na, Parent of a Child with Mitochondrial Encephalomyopathy

English translation

Hello, Amy! And hello to all the friends listening to this letter!

I am Zhao Na, from Jinzhou, Liaoning Province, China. My daughter, Miaomiao, is 10 years old this year. On the night of July 10, 2022, she suddenly lost her sight, and then came headaches, a high fever of 40°C, vomiting, and coma—she was admitted to the ICU! A month later she was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, with the mutation site A3243>G, known as MELAS syndrome for short! When I heard the diagnosis, I was stunned; my mind went completely blank. I did not know what kind of disease this was, nor how to treat it going forward, and even less did I know that this was a rare disease that could strike at any moment and even be life-threatening!

The attending doctor told us that there is currently no curative medicine for this disease; all that can be done is symptomatic treatment when an episode occurs. In the days that followed, the whole family was in a state of “battle readiness” every day, and I in particular spent each day on edge, because her disease is like a time bomb—she is fine one second, and has an episode the next… always catching us off guard! The child takes large pills three times a day, seven or eight kinds of medicine at each meal. At first she couldn't swallow pills; even drinking a whole cup of water with one pill didn't guarantee it went down—let alone eating a meal, she was full just from taking medicine and drinking water. The child cried while taking her medicine, and I cried too. That feeling of helplessness and pain is truly hard to describe!

She should have been walking into a classroom to study, and should have had a happy childhood playing together with friends, but my darling can only stay at home—not daring to run or jump, unable to play any entertainment with the slightest thrill (such as trampolines, swings, water surfing, and so on). At many children's play areas, we can only stand at the entrance, gazing in with trepidation…

If she can't go to school, we just don't go; if she can't play certain activities, we simply don't play them—none of that matters much. The main thing is that this mitochondrial disease triggered epilepsy. To reduce the seizures, the child has to follow a ketogenic diet, and there are so many foods she cannot eat! Ordinary rice, noodles, ice cream, French fries, drinks, cake, cookies, and so on—she cannot eat any of them. The child often asks me: “Mom, can I eat this? Mom, can I eat it after I get better?” Each time she asks, my heart aches as if pricked by a needle… So many nights have been sleepless nights for me, my heart constantly full of self-blame. Why does fate toy with me like this? Heaven finally granted me an angel after so long (I gave birth to my darling at the age of 40)—why must it break her wings? What must I do to bring back my darling's health…

Having said all this, many people will ask: “What is mitochondrial disease?” What symptoms does someone with this disease have? The answer: the mitochondria are the “energy factories” of the human body's cells. Once mitochondrial function becomes defective, all the organs throughout the body gradually fail from a lack of energy—this is mitochondrial disease, a hereditary rare disease with an extremely high rate of disability and death. And the mitochondrial encephalomyopathy that my daughter has, MELAS syndrome, is the most difficult and complex of all mitochondrial diseases in terms of treatment and drug development. Typical manifestations include sudden stroke-like symptoms (limb weakness, loss of vision), epileptic seizures, migraines, vomiting, and impaired consciousness; it can be said to affect every organ in the body, and can trigger an episode—or claim a life—at any moment!

We are all a group of ordinary parents, yet around us there truly is such a group of forgotten lives. They are enduring the endless torment brought by mitochondrial disease, yet because the disease is rare and complex, they are trapped in the triple plight of difficult diagnosis, difficult access to medicine, and difficult access to support, struggling bitterly in the dark. They are the most fragile part of the rare-disease community; every life is racing against death, and every family is barely holding on at the brink of poverty caused by illness. At this moment, we urgently call on the state to give this niche group more attention and assistance, so that they no longer face illness and despair alone.

For families of mitochondrial disease patients, beyond the illness itself, what is even harder is the dual pressure of survival and treatment.

On one hand, specific drugs are in extreme shortage and are very expensive. At present, there is no targeted specific drug for mitochondrial disease; most treatment drugs are imported or out-of-pocket, not covered by medical insurance. Patients need thousands or even tens of thousands of yuan per month just for medicine, and together with the costs of long-term rehabilitation, hospitalization, and examinations, the annual expenses easily reach hundreds of thousands. For ordinary wage-earning families and rural families, this is an astronomical figure. Countless families are thus bankrupted and buried in debt, falling into the despairing plight of “if you can't afford treatment, you can only give up.”

On the other hand, medical insurance and social relief coverage are insufficient. Although our country has already included some rare diseases in the protection system, the diagnosis, treatment, and medications related to mitochondrial disease are still not comprehensively covered, and critical-illness insurance and medical assistance play only a limited role in backstopping such high costs. At the same time, there are very few dedicated relief funds or charitable resources for mitochondrial disease. Patients' families lack effective relief channels and can only bear all the pressure alone.

Every life deserves to be treated kindly, and every patient has the right to live. Mitochondrial disease patients are not “a niche burden,” but compatriots who need to be protected jointly by the state and society. Here, we make an earnest appeal to the relevant state departments:

Speed up inclusion in medical insurance to ease the burden of seeking care: as soon as possible, include standardized diagnosis and treatment for mitochondrial disease and specific treatment drugs in the national medical insurance catalog and the scope of critical-illness insurance reimbursement, and raise the reimbursement ratio; include mitochondrial disease in the certification of chronic and special diseases, incorporate it into the scope of medical assistance for major and severe illnesses, provide special relief for families in difficulty, and build a solid line of defense against poverty and its recurrence caused by illness.

Improve the diagnosis and treatment system to enhance treatment capacity: establish a national, provincial, and municipal three-tier collaborative network for mitochondrial disease diagnosis and treatment, set up dedicated diagnosis and treatment centers and designated hospitals, open green channels for rare-disease diagnosis and treatment, and achieve early detection, early diagnosis, and early treatment; strengthen professional training for grassroots medical staff, popularize knowledge of mitochondrial disease diagnosis and treatment, and reduce rates of misdiagnosis and missed diagnosis; establish a national registry system for mitochondrial disease patients, ascertain the number of patients, and provide data support for policymaking.

Increase research investment to break through treatment bottlenecks: set up a dedicated research fund for mitochondrial disease, support research in basic medicine, clinical treatment, gene technology, and other fields, accelerate the development of domestic specific drugs and the clinical translation of cutting-edge treatment technologies, promote policy approval of safe technologies such as mitochondrial replacement therapy, and solve at the root the problem of having no drug to cure and treatments that don't work.

Improve the support mechanism to provide all-round care: introduce dedicated assistance policies for mitochondrial disease patients, providing rehabilitation care, living subsidies, and educational and employment support, especially for minor patients, granting long-term care protection; encourage charitable organizations and social forces to participate in relief, and build a multi-tiered support system that combines medical insurance, assistance, charity, and social support, so that patients feel the warmth of the state.

They are children cradled in their parents' hands yet unable to grow up healthy; they are young people who should be enjoying life yet are trapped by illness; they are the pillars who hold up their families yet have been struck down by disease. They have never given up hope of living, yet for lack of national attention and protection, they struggle bitterly in a desperate situation.

A rare disease does not mean being ignored; a niche group needs the state's backstop all the more. We earnestly ask the relevant state departments to attend to the survival plight of the mitochondrial disease community, to place this niche appeal on the agenda of livelihood protection, and to use the sunshine of policy to illuminate these lives trapped by rare disease, so that every mitochondrial disease patient can receive standardized treatment, every family can escape despair, and everyone can have the hope and dignity to live!

Let us speak out together, let love be not rare, and let every life be treated gently!

Finally, my heartfelt thanks to Amy for reading this letter out on the Atlantic, and my deep admiration for the spirit of braving the wind and waves shown by Amy and her team. I wish Amy success in the “human-powered rowing crossing of the Atlantic” challenge, and a safe return!

Kōde Mitochondrial Family Alliance; Miaomiao's mom, a mitochondrial patient

June 21, 2026

中文原文

Amy姐您好!聆听信件的朋友们,大家好!

我是来自中国辽宁锦州的赵娜,我的女儿【淼淼】今年10岁了,她在2022年7月10号晚上,突然间眼睛看不见了,然后就是头疼,高烧40度,呕吐,昏迷,住进icu!一个月后被确诊患有线粒体脑肌病伴高乳酸血症及卒中样发作,突变点位是A3243>G,简称:melas综合征!听到这个确诊结果,我当时整个人一下子蒙了,大脑一片空白,不知道这是一个什么病,也不知道接下来该如何去治疗,更不知道这个病是罕见病,随时会发作,甚至有生命危险!

主治医生告诉我们,这个病目前没有治愈的药物,只能是在发病的时候对症治疗。接下来的日子全家人每天都是"备战"的状态,我更是提心吊胆的度过每一天,因为她这个病就像是定时炸弹一样,上一秒还好好的,下一秒就发病了……总是让我们措手不及!孩子一天三顿吃着大药片,每顿都是七八种药,刚开始孩子不会咽药片,吃一粒药喝一杯水也不一定能把药咽下去,别说吃饭了,光吃药喝水都喝饱了。孩子一边吃药一边哭,我也哭,那种无助又痛苦的感觉真是难以形容!

本该走进校园坐在教室里学习的,本应该跟小伙伴们一起玩耍一起快乐的童年,我的宝贝却只能待在家里,不敢跑跳,不能玩带走一丁点刺激的娱乐项目【比如:蹦蹦床,荡秋千,水中冲浪等等】,好多儿童娱乐场所,我们只能是站在门口望而生畏……

不能上学我们就不去了,不能玩的项目我们可以不玩,这都不算啥,最主要的是因为这个线粒体病引发了癫痫病,为了减少发作,孩子不得不生酮饮食,好多食物孩子都不能吃!常规的米饭、面食、冰淇淋、薯条、饮料、蛋糕、饼干等等她都不能吃。孩子经常会问我:妈妈,这个我能吃吗?妈妈,等我病好了可以吃吗?每问一次,我的心像针扎一样的疼一下……多少个夜晚都是我的不眠夜,内心不停的自责,为什么命运如此捉弄我,上天好不容易赐给我一个天使【我40岁才生的宝贝】,为什么要折断她的翅膀?我要怎么做才能换来宝贝的健康呀……

说了这么多,好多人会问:“什么是线粒体病”?得了这个病会有什么样的症状?答:线粒体,是人体细胞的“能量工厂”,一旦线粒体功能出现缺陷,人体全身器官都会因缺乏能量逐步衰竭,这就是线粒体病——一种致残率、致死率极高的遗传性罕见病。而我闺女患有的这个线粒体脑肌病MELAS综合症更是线粒体病中治疗和研发药物最难最复杂的一种。典型表现为突发类似中风的症状(肢体无力、视力丧失)、癫痫发作、偏头痛、呕吐及意识障碍等,可以说是影响着全身各个器官,随时会发作或者失去生命!

我们都是一群普通的父母,身边确有这样一群被遗忘的生命,他们正承受着线粒体病带来的无尽折磨,却因疾病的罕见与复杂,深陷诊疗难、用药难、保障难的三重困境,在黑暗中苦苦挣扎。他们是罕见病群体中最脆弱的一部分,每一个生命都在与死神赛跑,每一个家庭都在因病致贫的边缘苦苦支撑,此刻,我们迫切呼吁国家给予这个小众群体更多关注与帮扶,让他们不再独自面对病痛与绝望。

对于线粒体病患者家庭而言,病痛之外,更难的是生存与治疗的双重压力。

一方面,特效药物极度短缺且价格昂贵。目前线粒体病缺乏针对性的特效药,多数治疗药物为进口药或自费药,未纳入医保报销范围,患者每月仅药费就需数千元甚至上万元,加上长期康复、住院、检查的费用,一年花费动辄数十万,对于普通工薪家庭、农村家庭来说,这是天文数字,无数家庭因此倾家荡产、负债累累,陷入“治不起就只能放弃”的绝望境地。

另一方面,医疗保障与社会救助覆盖不足。尽管我国已将部分罕见病纳入保障体系,但线粒体病相关诊疗项目、用药仍未被全面覆盖,大病保险、医疗救助对这类高额费用的兜底作用有限。同时,针对线粒体病的专项救助基金、慈善帮扶资源极少,患者家庭缺乏有效救助渠道,只能独自承担全部压力。

每一个生命都值得被善待,每一位患者都有活下去的权利。线粒体病患者不是“小众的负担”,而是需要国家与社会共同守护的同胞,在此,我们向国家相关部门发出恳切呼吁:

• 加快纳入医保,减轻就医负担:尽快将线粒体病规范化诊疗项目、特效治疗药物纳入国家医保目录与大病保险报销范围,提高报销比例;将线粒体病纳入慢特病认证,加入重特大疾病医疗救助范畴,对困难家庭给予专项救助,筑牢因病致贫、因病返贫的防线。

• 完善诊疗体系,提升救治能力:建立国家、省、市三级线粒体病诊疗协作网,设立专门的诊疗中心与定点医院,开通罕见病诊疗绿色通道,实现早发现、早诊断、早治疗;加强基层医护人员专业培训,普及线粒体病诊疗知识,降低误诊、漏诊率;建立全国线粒体病患者病例登记系统,摸清患者底数,为政策制定提供数据支撑。

• 加大科研投入,突破治疗瓶颈:设立线粒体病专项科研基金,支持基础医学、临床治疗、基因技术等领域的研究,加快国产特效药研发与前沿治疗技术的临床转化,推动线粒体替代疗法等安全技术的政策准入,从根源上破解无药可治、治疗无效的难题。

• 健全保障机制,给予全方位关怀:出台针对线粒体病患者的专项帮扶政策,为患者提供康复护理、生活补助、教育就业支持,尤其是未成年患者,给予长期照护保障;鼓励慈善组织、社会力量参与救助,构建医保、救助、慈善、社会帮扶相结合的多层次保障体系,让患者感受到国家的温暖。

他们是父母捧在手心却无法健康成长的孩子,是本该享受生活却被病痛困住的青年,是撑起家庭却被疾病击垮的顶梁柱,他们从未放弃生的希望,却因缺乏国家的关注与保障,在绝境中苦苦挣扎。

罕见病不代表被忽视,小众群体更需要国家的兜底。恳请国家相关部门重视线粒体病患者群体的生存困境,将这份小众的诉求纳入民生保障的议程,用政策的阳光,照亮这些被罕见病困住的生命,让每一位线粒体病患者都能得到规范治疗,每一个家庭都能摆脱绝望,拥有活下去的希望与尊严!

让我们携手发声,让爱不罕见,让每一个生命都被温柔以待!

最后,非常由衷的感谢Amy姐能在大西洋上读出这封信,也敬佩Amy姐和她的团队这种乘风破浪的挑战精神,预祝Amy姐“人工划船横渡大西洋”挑战成功,平安返航!

蔻德线粒体家庭联盟、线粒体患者淼淼妈

2026年6月21