Rare voices · Letter 09 of 12

A Letter to Amy from Wang Lihua, Mother of a Child with Duchenne Muscular Dystrophy (DMD)

A Letter to Amy from Wang Lihua, Mother of a Child with Duchenne Muscular Dystrophy (DMD)

English translation

Dear Amy,

Hello! I am the mother of a child with Duchenne muscular dystrophy (DMD). My name is Wang Lihua. I am writing this letter today, entrusting Kōde to deliver it to your side, hoping that out on the vast Atlantic you can hear the cry that we DMD families keep deep in our hearts, and can feel, through these words, our tenacity!

You may be hearing the name of this rare disease, DMD, for the first time too. DMD is the English abbreviation for Duchenne muscular dystrophy. It is a fatal X-linked recessive rare genetic disease that almost exclusively strikes boys. The affected child's body lacks the dystrophin protein that repairs muscle, so the skeletal muscles, cardiac muscle, and respiratory muscles throughout the body continuously and irreversibly atrophy and degenerate. Around age 3 the child frequently falls and walks unsteadily; around age 10 he completely loses the ability to walk and depends on a wheelchair for life; in the later stage, heart and lung function are continuously impaired. There is currently no cure. Gene therapy drugs have been approved and marketed in the United States, Japan, Saudi Arabia, and other countries; China is still in the clinical stage. Unfortunately, the DMD-causing gene is far, far too big—it is the largest gene in the human body known to us at present—so gene drugs, too, only slow the disease's progression. In the past, most patients' lives were fixed at the adolescent stage. Now one can choose long-term steroids, rehabilitation stretching, and ventilator-assisted breathing to delay the ability to walk by several years or even more than ten years, and to prolong life. There is now a new steroid drug developed for DMD patients with fewer side effects, vamorolone, but unfortunately the vast majority of ordinary families in China find it hard to afford long-term. We often see hope, yet painfully find that the light of hope has not yet shone into reality.

I once had smooth sailing—loved by my elders, cherished by my parents, accompanied by my husband, having started a family and a career and given birth to a child, everything I sought coming true; I thought this would be my whole life. I never expected that the muscular dystrophy that my college textbook once mentioned only in passing would fall on my beloved son. We have no family history; the pregnancy went smoothly, my diet was healthy and my emotions stable, all the prenatal check-ups got the green light, the delivery went smoothly, the child's cry was loud and clear and even praised by the midwife, and the newborn score was perfect. One episode of spitting up milk, one hospital visit, one blood test, one genetic test—and in the end we received a diagnosis. My lovely son, at just over forty days old, had already begun the countdown of his life!

I taught him to walk and to feed himself, only to watch, helplessly, as years later he loses the ability to walk bit by bit, comes to depend on a wheelchair, then—his upper limbs too weak—can only accept being fed, and finally depends on a ventilator to breathe and a nasal feeding tube to eat—and by then he may only be in his twenties or thirties, the age when one should be in high spirits! I am a nurse; I never imagined that everything I learned would in the end be used entirely on my own son.

Over these years, I have never resigned myself to fate. The whole family works together to care for the child—daily rehabilitation stretching, giving medicine on time, going for follow-ups on time; I keep consulting materials at home and abroad, connecting with patient families and popularizing knowledge of the disease. I have joined the management committee of the national alliance of DMD patient families, devoting myself to raising the popularization rate of standardized treatment, uniting the strength of the community, jointly promoting the development of new drugs, and personally supporting basic research. In others' eyes I am forever tenacious; only I know that on countless deep nights I too shed tears, then once again gather up my emotions and accompany my child to face each day's challenges. I have no earth-shaking heroic deeds; I am just one of tens of millions of DMD mothers, an ordinary person unwilling to admit defeat.

Our DMD community is facing all kinds of hardships. First is the heavy economic pressure. Long-term steroids, rehabilitation equipment, regular cardiopulmonary examinations, ventilator consumables—more than 70% of families spend over 60% of their total annual income on medical care, and many families are forced to empty their savings, borrow from all directions, and even interrupt standardized treatment. Second is the lack of social awareness and the discrimination. Many grassroots doctors are unfamiliar with DMD, so children are easily misdiagnosed and miss the golden intervention period; schools lack accessibility facilities, so children in wheelchairs find it hard to attend school normally; the strange looks of passersby and the uncomprehending gossip of others make children feel inferior and withdrawn, and also burden family members with invisible psychological pressure. Third is the double torment of caregiving and survival. As the child's muscles keep declining, turning over, dressing, and using the toilet all require all-day care by family members, and many mothers are forced to give up work, causing family income to plummet like a cliff; and once the child's breathing and heart are impaired, even a small cold can endanger his life—we live every day in fear and anxiety. Fourth is the remaining gap in the protection system. The vast majority of localities have not included DMD among chronic and special diseases, vamorolone is not covered by medical insurance and the cost pressure is high, and the popularization of rare-disease screening and genetic counseling is insufficient, so many families still face unknown risks when having children.

We do not beg for pity; we only hope to be seen and treated fairly.

What I want to say to Amy, who is braving the wind and waves

Learning that you are going to row a two-person, human-powered boat across three thousand miles of the Atlantic, carrying the voice of the rare-disease community across the ocean, I am filled with heartfelt admiration and deep emotion.

You must face 20-foot waves, rowing day and night without rest, endless exhaustion and loneliness, and the sea's changeable extreme weather—just as we DMD families, day after day, fight the disease that slowly erodes the body; both are a long, bitter struggle with no end in sight, one we can only get through by gritting our teeth.

On the sea there is no supply ship; you rely solely on your hands to fight the sea. In our lives there is no specific drug as a backstop; we can only fight fate through day-after-day perseverance. The oars in your hands are your strength to move forward; our day-after-day companionship, rehabilitation, and running around are the oars that protect our children.

However great the wind and waves, do not be afraid; when weariness sets in, read this letter. We, tens of millions of rare-disease families, will be watching over you from the land. May the sea wind soothe your weariness, may every stroke bring a harvest, and may you arrive safely. You are carrying the stories of rare disease to the middle of the ocean on our behalf, letting the whole world hear our voice—faint, yet never ceasing. You are the hero of us all!

What I want to say to every ordinary person

Please have a little more patience, a little more understanding, and set aside your unfamiliarity with and prejudice against rare diseases. Rare diseases are not far away—out of every hundred newborns, one is a child with a rare disease. DMD children are not “weak and delicate”; their muscles are simply continuously failing. Rare-disease families are not a “burden”; they are just ordinary people protecting a life with all their might.

I hope hospitals will improve early screening and multidisciplinary diagnosis and treatment for rare diseases; I hope medical insurance policies will keep tilting toward us, so that life-saving drugs are no longer out of reach; I hope campuses and public spaces will improve accessibility facilities, giving children in wheelchairs an equal right to study and travel; I hope the public will cast fewer strange looks and show a little more inclusion and kindness.

Only by seeing the rare will we keep countless vivid lives from being submerged in corners no one knows.

Even though the road ahead is full of suffering, I will never stop my steps of protecting my child. Day after day of persistence, year after year of holding fast—with a glimmer of light, I will hold out against the long years! I hope this generation of DMD patients can receive better treatment, and that in the future they too will have the chance to follow in Amy's footsteps and take part in extreme-sports challenges!

Wang Lihua, mother of a child with DMD

June 21, 2026

中文原文

杜氏肌营养不良DMD患儿妈妈王丽华写给Amy姐的一封信

亲爱的Amy姐:

您好!

我是一名杜氏肌营养不良(DMD)患儿的妈妈,我叫王丽华,今天写下这封信,托付蔻德送到你的身边,愿你在茫茫大西洋上,能听见我们DMD家庭藏在心底的呐喊,能通过文字感受到我们的坚韧!

可能你也是第一次听到DMD这个罕见病名字,DMD是杜氏肌营养不良的英文缩写,这是一种致命的X连锁隐性罕见遗传病,几乎只侵袭男孩。患儿体内缺少修复肌肉的抗肌萎缩蛋白,全身骨骼肌、心肌、呼吸肌会持续不可逆萎缩退化。孩子3岁左右频繁摔跤、走路摇晃;10岁前后彻底失去行走能力,终身依靠轮椅;后期心肺功能持续受损,目前无法治愈,基因治疗药美国、日本、沙特等国家已经获批上市,中国目前还是在临床阶段,可惜DMD治病基因太太太大了,是我们人类目前已知的人体最大基因,所以基因药物也是延缓疾病发展,在过去多数患者生命定格在青少年时期。如今可以选择长期激素、康复拉伸、呼吸机辅助通气得以延缓数年甚至十年以上的行走能力以及延长生命,现在有款副作用小的针对DMD患者研发的激素新药伐莫洛龙,可惜国内绝大多数普通家庭难以长期负担。我们时常看见希望,但是又痛苦的发现希望之光还没照进现实。

曾经的我顺风顺水,长辈疼父母爱,爱人相伴,成家立业生子,所求皆如愿,我以为这会是我的一生。万没想到,我大学时课本上曾经一带而过的肌营养不良,会落在我心爱的儿子身上。我们没有家族史,孕期顺利,饮食健康情绪稳定,产检一路绿灯,生产顺利,孩子哭声嘹亮还被助产师夸奖,新生儿评分满分。一次吐奶、一次就医、一次验血、一次基因检测最终得到一纸诊断书,我可爱的儿子,出生不过四十多天就已经开启人生倒计时的模式了!

我教会他走路,自己吃饭,再眼睁睁看着若干年后,他一点点失去行走能力,依靠轮椅,继而上肢无力只能接受喂饭,最后呼吸依靠呼吸机、进食依靠鼻饲管,而此时他可能才二三十岁,本该是意气风发的啊!我是护士,没想到我最终所学还会全部用于我儿身上。

这些年,我从未认命,全家齐心合力照料孩子,每日康复拉伸、按时喂药、按时复诊;我一直查阅国内外资料,对接病友家庭、科普疾病知识。并加入全国DMD患者家庭联盟管委会,致力于提高规范治疗普及率、凝聚群体力量、共同推动新药研发、身体力行的支持基础科研。旁人眼里我永远坚韧,只有我知道,无数深夜,我也会落泪,又再次收拾好情绪,陪孩子直面每一天的挑战。我没有惊天动地的壮举,只是千万个DMD妈妈里,不肯认输的普通人。

我们DMD群体正在面对各种困境。第一是沉重的经济重压。长期激素、康复器械、定期心肺检查、呼吸机耗材,七成以上家庭全年医疗支出超过总收入六成,很多家庭被迫掏空积蓄、四处举债,甚至中断规范治疗。第二是社会认知匮乏与歧视。很多基层医生不熟悉DMD,孩子容易误诊错过黄金干预期;学校缺少无障碍设施,轮椅患儿难以正常上学;路人异样的眼光、旁人不理解的闲话,让孩子自卑、封闭,也让家属背负无形精神压力。第三是照护与生存双重煎熬。随着孩子肌肉不断衰退,翻身、穿衣、如厕全都需要家人全天照料,很多妈妈被迫放弃工作,家庭收入断崖式下跌;等到孩子呼吸、心脏受损,一场小小的感冒就可能危及生命,我们每一天都活在提心吊胆里。第四是保障体系仍有缺口。绝大部分地方未将DMD纳入慢特病,伐莫洛龙未进医保费用压力大,罕见病筛查、遗传咨询普及不足,很多家庭生育时仍面临未知风险。

我们不奢求怜悯,只盼望被看见、被公平对待。

我想对乘风破浪的Amy姐说

得知你要双人无动力划船横渡三千英里大西洋,带着罕见病群体的声音漂洋过海,我由衷敬佩、满心动容。

你要直面二十尺巨浪、昼夜不休的划桨、无尽疲惫与孤独、海上多变的极端天气,如同我们DMD家庭日复一日对抗缓慢侵蚀身体的病魔,都是一场看不到终点、只能咬牙坚持的漫长苦战。

海上没有补给船,全靠双手对抗大海;我们的生活里没有特效药兜底,只能靠日复一日的坚守对抗命运。你手中的船桨是你前行的力量,我们日复一日的陪伴、康复、奔走,是守护孩子的船桨。

风浪再大,你不要害怕;疲惫袭来,就读一读这封信。我们千万罕见病家庭,会在陆地为你守望。愿海风抚平你的疲惫,愿每一次划动都有收获,平安抵达。你替我们把罕见病的故事带到大洋中央,让全世界听见我们微弱却从未停歇的声音,你是我们所有人的英雄!

我想对每一个普通人说

请多一点耐心,多一点了解,放下对罕见病的陌生与偏见。罕见病并不遥远,每一百个新生儿里,就有一名罕见病患儿。DMD孩子不是“体弱娇气”,他们只是肌肉在持续衰败;罕见病家庭不是“负担”,他们只是拼尽全力守护生命的普通人。

希望医院完善罕见病早筛、多学科诊疗;希望医保政策持续倾斜,让救命药不再遥不可及;希望校园、公共空间完善无障碍设施,给轮椅孩子平等求学出行的权利;希望大众少一点异样眼光,多一份包容与善意。

看见罕见,才不会让无数鲜活生命淹没在无人知晓的角落。

纵使前路满是煎熬,我永远不会停下守护孩子的脚步。日日坚持,岁岁坚守,以微光,抵漫长岁月!希望我们这代DMD患者们可以获得更好的治疗,将来也有机会跟随Amy姐的步伐参与到极限运动挑战!

DMD患儿妈妈:王丽华

2026年6月21日