Feature: “She looked so normal” – Embodied Narratives and Promoting Awareness about Rare Disease in China

by Daniel Vuillermin and Li Zhuoya

In China, embodied narratives –– the construction, performance and process of “making meaningful one’s own body” in auto/biographical forms –– are emerging as a means of promoting awareness about rare disease (Heavey 2015). As home to the world’s largest population, China has an estimated 16 million people with a rare disease (Song et al 2017). Definitions of rare disease, however, vary internationally. In the US a rare disease is one that affects less than 200,000 people, whereas in Japan the population figure is significantly lower with any condition that affects less than 50,000 people (Cui and Han 2015). At present China does not yet have an official quota. Cui and Han (2017) propose that any condition that affects 300,000-500,000 individuals could be a “reference for the lower limit of prevalence to define rare diseases for China” on the basis of pharmaceutical companies being able to make a “reasonable profit” from the development of orphan drugs. Of the 7,000 identified rare diseases only 5% are treatable and patients who have access to medicines face very high expenditure (Dong and Wang, 2016). According to a national survey conducted by the China-Dolls Center for Rare Disorders and Tencent News the costs of treatment for Chinese people with a rare disease was three times higher than their personal income or almost double that of the combined family income (Dong and Wang, 2016). In addition to the financial burden or lack of medical treatments, many people with a rare disease suffer social isolation due to unemployment and stigma, particularly those whose conditions affect their skin, stature or mobility. Rare disease in China, as elsewhere, receives significantly less research, funding, and public awareness compared to high-profile communicable diseases such as HIV/AIDS and chronic diseases such as breast cancer. As a whole rare diseases may be considered a hidden disease as they are often overlooked by medical researchers, pharmaceutical companies, and government health departments. Individuals with a rare diseases are also often overlooked as often their symptoms may be misinterpreted resulting in misdiagnosis. Due to the lack of treatments for the vast majority of rare diseases, patients have no choice but to wait in hope for the development of orphan drugs.

In response to the personal, economic, social and medical challenges of living with a rare disease, a group of Chinese NGOs are striving to provide innovative and inclusive programs that promote education and encourage social engagement. Among these organizations is the Illness Challenge Foundation (ICF). Established in 2015, the ICF is dedicated to providing resources about rare disease and improving access to services through the use of a range of narrative-based projects including RareCompass Lab, the Rare Disease Science Popularization Program and the People Born to Challenge short documentary series. By drawing upon embodied narratives, ICF aims to motivate and enable the rare disease community to speak out and educate the public about rare diseases, address misunderstandings, biases and prejudices, to create an inclusive and respectful social environment and bring about changes in government policies and the social welfare system.

RareCompass Lab is an innovative research and development web platform that endeavours to solve urgent health communication issues. This narrative project brings together volunteers with rare disease from the ICF, undergraduate medical students from the Institute for Medical Humanities at Peking University and rare disease specialists to create profiles about the personal, social, and medical aspects of living with a rare disease. Whether before, during or after diagnosis, patients with a rare disease often receive medical information that is difficult to comprehend or outdated. These new narrative-based profiles are being developed by medical students and verified by specialists. They deliver accurate and up-to-date information in a way that is accessible for general readers, but also addresses the personal and social aspects of living with a rare disease.

The illness profiles are intended to describe “the patient’s perception, experience, expression, and pattern of coping with symptoms” (Kleinman 1991) and are also intended to enable medical students to have an in-depth understanding of the bio-psycho-social dimensions of living with a rare disease. The project aims to make use of selected profiles to promote awareness and increase access to knowledge about aetiology, symptoms, (mis)diagnosis and (un)availability of treatments in China via online platforms and social media.

In 2017, the RareCompass Lab project attracted 32 volunteers (23 women and 9 men) from a wide range of backgrounds and ages; as this is a voluntary project we can not determine factors such as sex, age or socioeconomic status. The volunteers were matched with undergraduate medical students enrolled in a course –– Illness Narratives: The Body –– at the Institute for Medical Humanities at Peking University. Many of the profiles of women with rare disease reflected upon how their conditions affected their femininity in a Chinese context. For example, one profile describes how Aunt Xiao, who in the early 1970s started her career as a welder, was empowered by her profession yet after being diagnosed with ALS became physically inactive and “totally dependent on her husband” (Zheng). During the Cultural Revolution (1966–76), women were encouraged to break free of their traditional roles and to enter professions that were the domain of male workers. Although, on the whole women continued to suffer “extremely low status in Chinese culture” (Li 2000), women such as Aunt Xiao were able to become a “leading figure” in their professions. As one student writes:

Aunt Xiao told her story about ALS with a smile … At a young age, she was so energetic that she did everything with great enthusiasm, which made her a leading figure in welding. No matter how heavy work it was, Aunt Xiao was able to conquered it. It seems that her life was about hard work and diligence, until the day she was diagnosed with ALS.

Aunt Xiao speculated that there may be a connection between her “heavy work” and ALS yet the causes of ALS are still largely unknown. ALS deprived her of the active, independent life that historically women in China were deprived of; now she was “like a bird without its wings”. For women of Aunt Xiao’s generation, traditional notions of femininity –– much like most other vestiges of ancient Chinese culture –– were uprooted and replaced with proletarian virtues; beauty was for the bourgeoisie. However, for young Chinese women today beauty is considered an essential ingredient not only in attracting partners but also for improving one’s employment opportunities. As one woman with Neurofibromatosis 1 –– a genetic disorder that produces benign tumors on the skin –– states “I did not think my disease would hinder me from getting a job when I’m graduated from university, but I do not dare to change my current job easily, since the tumors have changed my appearance and some people may feel uncomfortable about this.”

As private medical services in China are often very costly family members must perform a range of health care roles: nurse, physical therapist, counsellor. For women with a rare disease this can be very confronting, particularly when male family members must attend to their personal needs. One young woman with neuromyelitis optica — an autoimmune disease, which predominantly affects the spinal cord and optic nerves –– describes the shame and embarrassment she felt having her father assist her with enemas:

For the first few years, her parents would take turns to help her. Although she thought that it was really shameful for a girl for her father to assist her, she had to accept it. “Although he never complained my father was not always as patient as my mother and he would go outside sometimes. It may be that he also felt embarrassed or disgusted. That hurt me a lot.

For some volunteers the process of raising awareness about rare disease may seem futile and, in some cases, can affect their health. One woman with scleroderma who had immersed herself in chat groups, online forums, and public events questioned the means and efficacy of randomly disseminating leaflets. She states:

The hospital just asked us patients to distribute leaflets to people passing by. Does it make any sense? If we let public know about our situation and they show their sympathy and understanding, then what? Will our illness be cured? After that, I never participated in those activities.

However, upon hearing about the Profile of an Illness project she decided that it may be worthwhile participating as it may encourage medical students to focus their future research on rare disease. At the first meeting a volunteer asked “What is the aim of your project?” One student responded that “Although us students can not yet cure their diseases we are the next generation who are going to build the future.” In response the volunteer encouraged them to devote themselves to improving diagnosis and to find treatments for rare disease, stating, “If nobody works in this area, these kind of events will be held forever.”

Daniel Vuillermin is a Lecturer at the Institute for Medical Humanities, Peking University.

Li Zhuoya is a Project Manager at the Illness Challenge Foundation.


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