Rare voices · Letter 04 of 12

A Letter to Amy

A Letter to Amy from Wang Zhipeng, a Spinal Muscular Atrophy (SMA) Patient

English translation

Hello, Amy. I am Wang Zhipeng, from Inner Mongolia, China. The disease I have is SMA type II (spinal muscular atrophy).

Overview: SMA is a rare autosomal recessive genetic disease. Due to a defect in the SMN1 gene on chromosome 5, the motor neurons of the spinal cord are damaged, causing weakness and atrophy of muscles throughout the body.

Types: Type 1 is the most severe, with onset in infancy and difficulty breathing and feeding independently; Type 2 has onset in early childhood, and patients can sit but cannot walk; Type 3 has onset in childhood/adolescence, patients can walk but gradually weaken in adulthood; Type 4 is a mild adult-onset form.

Characteristics: intelligence and the senses are normal; only motor function declines. Parents are mostly asymptomatic carriers, so there is a genetic risk in childbearing.

Current status: SMA now has targeted drugs that can slow progression and improve symptoms; combined with rehabilitation, respiratory care, and nutritional care, they can greatly improve quality of survival.

I am currently doing rehabilitation in Qingdao. I am 11 years old, and my hobbies are singing and photography. The medicines I have used include nusinersen sodium, risdiplam oral solution, and GC101. We are the spinal muscular atrophy (SMA) rare-disease community. Because of gene defects, our motor nerves are damaged and our muscles atrophy and weaken, but our intelligence is unaffected. There are patients of all ages; we need medication for life, and rely on rehabilitation aids to maintain mobility.

Main challenges: long-term high costs and care expenses, a lack of public accessibility facilities, being prone to misdiagnosis, and many obstacles in seeking and finding employment. We are mentally sound and have the ability to learn and work; our mobility difficulties come from a neuromuscular disease, not from low intelligence. Standardized treatment can significantly improve our quality of life. We look forward to social inclusion, better accessibility infrastructure, and improved medical protection.

Amy, I think you are truly amazing. When I heard that you were going to cross 5,000 kilometers, and to do it by rowing by hand, I was astonished—covering such a great distance without any power or assistance. Keep going! I believe you will surely succeed in the challenge. And to friends with the same illness in other countries, please don't give up either. One day we will all be able to walk and run; even if our bodies are limited, we can still see the world just the same. We are not just rare—we must pull ourselves together. I believe that one day, all rare diseases will be treatable.

What I want to say to society on behalf of the SMA rare-disease community:

We are patients with spinal muscular atrophy. Although our bodies are trapped by weak muscles, our minds and hearts are just as vivid and complete as everyone else's. We do not need pity; we only ask for equal understanding. Our mobility difficulties are not laziness, still less impaired intelligence—they are only the inconvenience brought by a neuromuscular disease.

We work hard at rehabilitation and persist in taking our medication, just to have a little more ability to live independently. We hope cities will improve accessibility ramps, elevators, and restrooms so that we too can move about freely. We hope schools and workplaces will show a little more inclusion, giving us a fair chance to learn and realize ourselves. We hope more people will understand rare diseases and reduce misunderstanding and strange looks. Expensive drugs sustain our lives, and we also look forward to continued improvement in medical protection to ease the burden on countless families.

I also believe that one day I too will be able to stand up, walk, and run. Keep going.

Wang Zhipeng, SMA type II (spinal muscular atrophy) patient

June 2026

中文原文

给Amy的一封信

你好Amy姐姐,我是来自中国内蒙古的王志鹏,我所患疾的疾病是SMA二型(脊髓性肌肉萎缩症)。

简介:SMA是罕见常染色体隐性遗传病,因5号染色体SMN1基因缺陷,脊髓运动神经元受损,全身肌肉无力、萎缩。

分型:1型最重,婴儿期发病,难自主呼吸进食;2型幼儿发病,能坐不能走;3型儿童/青少年发病,可行走,成年后逐渐无力;4型成年轻症。

特点:智力、感官正常,仅运动功能衰退。父母多为无症状携带者,生育有遗传风险。

现状:SMA现有靶向药物可延缓、改善症状,配合康复、呼吸与营养护理,能大幅提升生存质量。

我目前在青岛做康复,我11岁了,我的爱好是唱歌,摄影,我用过的药有,诺西那生钠、利司扑兰口服液、GC101、我们是脊髓性肌肉萎缩症(SMA)罕见病群体,因基因缺陷导致运动神经受损,肌肉萎缩无力,智力不受影响,各年龄段均有患者,终身需要药物,康复辅助维持行动。

主要挑战:长期高额费用与护理开支,公共无障碍设施缺失,易被误诊,求业就业存在许多阻碍,我们心智健全,拥有学习和工作的能力,行动不便源于神经肌肉疾病,并非智力低下,规范治疗能显善住改善生活质量,期待社会包容,完善无障碍配套与医疗保障。

Amy姐姐,我觉得你特别厉害,当我听到你要跨越5000公里,且手动划船跨越,我很震惊,在没有动力和辅助的情况下,能跨越这么远的距离,加油啊,我相信amy姐姐肯定能挑战成功的。在其他国家的病友们也不要放弃,总有一天我们都能走起来,跑起来,即使我们的身体受限,我们也可以照样看世界,不止罕见,我们一定要振作起来,我相信总有一天,所有罕见病都被治疗。

代表SMA罕见病群体想对社会说的话:

我们是脊髓性肌肉萎缩症患者,身体虽然被无力的肌肉困住,可我们的头脑,内心和所有人一样鲜活完整。我们不需要怜悯,只求一份平等的理解,我们行动不便,不是懒惰,更不是智力受损,只是神经肌肉带来的不方便.

我们努力康复,坚持用药,只为能多一点自主生活的能力,希望城市多完善无障碍坡道,电梯,卫生间让我们也能自由出行。希望学校职场多一点包容给我们公平学习,实现自我的机会,希望更多人了解罕见病,减少误解与异样的目光。昂贵的药物支撑着我们的生命,我们也期待医疗保障持续完善,减轻无数家庭的重担,

我也相信我有一天也能站起来,走起来,跑起来,加油。

SMA二型(脊髓性肌肉萎缩症)患者 王志鹏

2026年6月