Rare Disease Day falls on February 29 this year, the last day in the second month of the year. The article shares the story of a girl who has confronted TSC (Tuberous Sclerosis Complex) with her mother for 15 yearsr in the rare disease community.
Due to suffering from a rare disease, Niuniu often needed diverse examinations at the hospital from a young age, according to the Amity Foundation. "Stick on the EEG electrode wires, and you become a long-haired princess with twenty-nine colorful hairs!" Whenever Niuniu was scared, her mother would comfort her in this way.
In 2009, 52 days after Niuniu's birth, frequent seizures occurred in her left hand and left foot, and she was eventually diagnosed with TSC. The incidence of this rare disease is about 1 in 10,000 to 1 in 6,000, causing tumors in varied parts of the brain, heart, kidneys, and lungs. The patient's facial skin lesions form nodules centered on the nose, like a butterfly knot in shape.
In a serious condition before the age of two, she experienced seizures sometimes even up to twenty or thirty times a day. Her mother, Yuan Bixia, took care of her daughter every step of the way.
"There is no hope if you give up, but as long as I persist, we will see hope," Yuan said.
To cover Niuniu's treatment expenses, her husband continued to work, while Yuan carried her daughter around the country to seek medical advice.
Experts recommended a foreign antiepileptic drug for Niuniu. After taking it, the frequency of seizures significantly decreased. However, this drug was not yet introduced on the mainland then, so Yuan had to travel to Hong Kong to purchase it.
When Niuniu was four years old, the examination report showed tumors in her kidneys. Under the guidance of a kidney specialist in the United States, in 2015, Yuan started Niuniu on mTOR inhibitors. In the third year of taking the medication, Niuniu's kidney tumors gradually decreased.
Last year's reexamination report showed that some tumors on Niuniu's body had disappeared, undoubtedly a "miracle" for them.
However, they need to pay more than four thousand yuan in medication expenses every month. Even after reimbursement from children's medical insurance, there are still additional expenses for comprehensive reexamination, which puts a heavy economic burden on the family.
After the reduction in seizure frequency, Yuan decided to send Niuniu to a regular kindergarten. Not accustomed to kindergarten at first, Niuniu was unable even to wear socks properly, with her corrective glasses often worn incorrectly. Whenever Niuniu came home from school, Yuan would encourage her to seek help from classmates to practice her social skills.
When Niuniu entered elementary school, to lighten the family's financial burden, Yuan went to work at an association. Due to her busy schedule, she often needed help to fetch Niuniu from school on time. Once, she was late due to work, and when she arrived at the school gate, five or six parents of Niuniu's classmates who knew she hadn't been picked up came to take Niuniu home for dinner.
At home, Niuniu often shared what happened at school with her mother. One time, she told Yuan that she had a seizure during a physical education class and accidentally fell. Six or seven classmates immediately ran over to help and escorted her to the medical room.
Now, Niuniu is in her third year of junior high school, but her logical thinking abilities still lag behind those of children her age due to the illness.
Regarding the upcoming senior high school entrance examination and the problem of choosing a high school, Yuan believes there are still significant challenges. It is an urgent social problem that rare disease patients can find jobs after recovery.
"Some rare disease patients have certain work abilities but miss job opportunities due to facial symptoms or occasional seizures."
Yuan Bixia revealed that many eligible rare disease patients not only face greater difficulties than ordinary people in job hunting but also often suffer from social prejudice and discrimination. She sincerely hopes that this rare disease community can receive more attention and acceptance from society.
Looking to the future, Yuan wishes to organize a personal exhibition for Niuniu to showcase the real growth process of rare disease children and arouse society's attention and support for this community.
In collaboration with the TSC China Alliance, the faith-based Amity Foundation initiates a comprehensive project targeting the nationwide TSC community. It provides academic support, national patient meetings, outpatient appointments, MTD (Modern Techniques in Differential Equations) remote discussions, disease popularization, genetic testing, psychological counseling, education funds, personnel development, and other services nationwide. Niuniu is one of the beneficiaries of the project.
- Translated by Abigail Wu
2月29日，是今年的“国际罕见病日”。今天，让我们走近罕见病群体的世界，倾听他们的故事。
据爱德基金会，“乖乖贴上脑电图的电极线，你就是拥有二十九根彩色头发的长发公主！”由于身患罕见病，妞妞从小就经常需要在医院接受各种检查。每当妞妞害怕时，妈妈总是这样抚慰女儿。
2009年，在妞妞出生第52天，因左手左脚出现频繁抽搐，最终被检查出患有TSC（结节性硬化症）。
这种罕见病的发病几率约为1/6000~1/10000，可导致大脑、心脏、肾脏、肺部等部位长肿瘤。
由于患者脸上皮肤病变是以鼻子为中心，向鼻翼两侧以蝴蝶形状长出结节点，因此TSC还有个美丽的名字叫“蝴蝶结”。
在妞妞两岁前，她的病情十分严重，每日癫痫发作的次数有时甚至高达二三十次，袁碧霞便寸步不离照料女儿。
“放弃就没有任何希望了，但只要坚持，就一定会看到希望。”
为了维持妞妞的治疗开支，丈夫继续上班，而袁碧霞独自背着妞妞辗转全国求医问药。
专家为妞妞推荐了一款国外的抗癫痫药物，服用后，妞妞的癫痫发作次数明显减少。然而这种药物在当时的内地仍未引进，袁碧霞只能前往香港购买。
在妞妞四岁时，检查报告显示她的肾脏已出现错构肿瘤。在美国肾脏专家的建议下，2015年，袁碧霞开始给妞妞服用mTOR抑制剂治疗药物。在服用该药物的第三年，妞妞的肾脏肿瘤已经逐渐减少。
去年的复查报告显示，妞妞身上的一些肿瘤已经消失，这对于袁碧霞和妞妞来说无疑是一个“奇迹”。
但袁碧霞每月需自费四千多元的药费，加之少儿医保报销后仍需自费全面复查的部分费用，让这个家庭承受着沉重的经济压力。
在癫痫发作次数减少后，袁碧霞决定将妞妞送入普通幼儿园。
起初妞妞在幼儿园很不适应，连袜子都穿不好，矫正眼镜也经常戴反。每当妞妞放学回家后，袁碧霞都会鼓励她积极寻求同学的帮助，以此提升妞妞的社交能力。
在妞妞上小学时，为了减轻家里的经济负担，袁碧霞前往协会参加工作。由于工作繁忙，她经常无法准时接送妞妞放学。有一次袁碧霞因工作太忙迟到了，当她赶到学校门口时，有五六位同学家长知道她还没有被接走时就来接妞妞回家吃饭。
在家里，妞妞也经常和袁碧霞分享学校里发生的事情。有一次，她告诉妈妈在上体育课时癫痫发作了，不小心摔倒。班上六七位同学立即跑过来帮忙，护送她去医务室。
如今，妞妞已经读初三了，由于患病，妞妞的逻辑思维能力相较同龄小孩仍有差距。
面对即将到来的中考和高中择校问题，袁碧霞认为仍是一个极大的挑战。罕见病患者恢复后如何就业，也成为了亟待解决的社会问题。
“有些罕见病患者其实具备一定的工作能力，却因为脸上的症状影响，或癫痫会偶尔发作而错失工作机会。”
袁碧霞透露，许多适龄的罕见病患者，在求职道路上不仅面临着比常人更大的困难，还时常受到社会偏见和歧视的困扰。她深切地希望，这个罕见病的群体能够得到更多人的关注和接纳。
谈及未来，袁碧霞充满期待。她有一个心愿，那就是为妞妞举办一场个人专题展，通过展现罕见病儿童的真实成长历程，引起社会对这一群体的关注和支持。
做蝴蝶结的守护者项目是由爱德基金会携手蝴蝶结罕见病关爱中心发起的、全国性的针对罕见病TSC群体的综合性项目。在全国范围为TSC群体提供学术及全国病友年会、门诊预约、MTD远程讨论、疾病科普、基因检测、心理疏导、助学基金、人员建设等服务。妞妞，就是项目的受益人之一。
十五年，她用母爱对抗发病率万分之一的“蝴蝶结”
Rare Disease Day falls on February 29 this year, the last day in the second month of the year. The article shares the story of a girl who has confronted TSC (Tuberous Sclerosis Complex) with her mother for 15 yearsr in the rare disease community.
Due to suffering from a rare disease, Niuniu often needed diverse examinations at the hospital from a young age, according to the Amity Foundation. "Stick on the EEG electrode wires, and you become a long-haired princess with twenty-nine colorful hairs!" Whenever Niuniu was scared, her mother would comfort her in this way.
In 2009, 52 days after Niuniu's birth, frequent seizures occurred in her left hand and left foot, and she was eventually diagnosed with TSC. The incidence of this rare disease is about 1 in 10,000 to 1 in 6,000, causing tumors in varied parts of the brain, heart, kidneys, and lungs. The patient's facial skin lesions form nodules centered on the nose, like a butterfly knot in shape.
In a serious condition before the age of two, she experienced seizures sometimes even up to twenty or thirty times a day. Her mother, Yuan Bixia, took care of her daughter every step of the way.
"There is no hope if you give up, but as long as I persist, we will see hope," Yuan said.
To cover Niuniu's treatment expenses, her husband continued to work, while Yuan carried her daughter around the country to seek medical advice.
Experts recommended a foreign antiepileptic drug for Niuniu. After taking it, the frequency of seizures significantly decreased. However, this drug was not yet introduced on the mainland then, so Yuan had to travel to Hong Kong to purchase it.
When Niuniu was four years old, the examination report showed tumors in her kidneys. Under the guidance of a kidney specialist in the United States, in 2015, Yuan started Niuniu on mTOR inhibitors. In the third year of taking the medication, Niuniu's kidney tumors gradually decreased.
Last year's reexamination report showed that some tumors on Niuniu's body had disappeared, undoubtedly a "miracle" for them.
However, they need to pay more than four thousand yuan in medication expenses every month. Even after reimbursement from children's medical insurance, there are still additional expenses for comprehensive reexamination, which puts a heavy economic burden on the family.
After the reduction in seizure frequency, Yuan decided to send Niuniu to a regular kindergarten. Not accustomed to kindergarten at first, Niuniu was unable even to wear socks properly, with her corrective glasses often worn incorrectly. Whenever Niuniu came home from school, Yuan would encourage her to seek help from classmates to practice her social skills.
When Niuniu entered elementary school, to lighten the family's financial burden, Yuan went to work at an association. Due to her busy schedule, she often needed help to fetch Niuniu from school on time. Once, she was late due to work, and when she arrived at the school gate, five or six parents of Niuniu's classmates who knew she hadn't been picked up came to take Niuniu home for dinner.
At home, Niuniu often shared what happened at school with her mother. One time, she told Yuan that she had a seizure during a physical education class and accidentally fell. Six or seven classmates immediately ran over to help and escorted her to the medical room.
Now, Niuniu is in her third year of junior high school, but her logical thinking abilities still lag behind those of children her age due to the illness.
Regarding the upcoming senior high school entrance examination and the problem of choosing a high school, Yuan believes there are still significant challenges. It is an urgent social problem that rare disease patients can find jobs after recovery.
"Some rare disease patients have certain work abilities but miss job opportunities due to facial symptoms or occasional seizures."
Yuan Bixia revealed that many eligible rare disease patients not only face greater difficulties than ordinary people in job hunting but also often suffer from social prejudice and discrimination. She sincerely hopes that this rare disease community can receive more attention and acceptance from society.
Looking to the future, Yuan wishes to organize a personal exhibition for Niuniu to showcase the real growth process of rare disease children and arouse society's attention and support for this community.
In collaboration with the TSC China Alliance, the faith-based Amity Foundation initiates a comprehensive project targeting the nationwide TSC community. It provides academic support, national patient meetings, outpatient appointments, MTD (Modern Techniques in Differential Equations) remote discussions, disease popularization, genetic testing, psychological counseling, education funds, personnel development, and other services nationwide. Niuniu is one of the beneficiaries of the project.
- Translated by Abigail Wu
Story: Amity Foundation Helps Girl With Rare Disease
