Rare Life: A Documentary Illuminating the Struggles and Resilience of China's Rare Disease Community
The last day of February each year is the renowned “International Rare Disease Day.” This year marks the 16th International Rare Disease Day.
According to the “2021 Research Report on the Definition of Rare Diseases in China,” rare diseases are defined as conditions with an incidence rate of less than 1 in 10,000 among newborns, a prevalence rate of less than 1 in 10,000, and fewer than 140,000 affected individuals. There are more than 7,000 known types of rare diseases worldwide. In China, approximately 20 million people suffer from rare diseases, with 80% of these conditions caused by genetic factors. Although the number of newly diagnosed patients may seem negligible against the backdrop of China’s 1.4 billion population, the annual figure of over 200,000 new diagnoses is by no means insignificant.
Rare diseases are a global issue, with countries worldwide facing significant challenges in their diagnosis and treatment. For patients, rare diseases are typically characterized by complex etiologies, atypical symptoms, diagnostic difficulties, and high treatment costs. Consequently, patients often contend with long-term therapy and substantial medical expenses, while also frequently encountering social stigma and psychological stress. A diagnosis of a rare disease implies facing the immense challenge of lifelong treatment.
From a macro perspective, the diagnosis and treatment of rare diseases involve multidisciplinary expertise across fields such as clinical medicine, scientific research, and pharmaceutical development. Research capabilities both domestically and internationally remain relatively limited, with only top-tier tertiary hospitals and leading specialists possessing the technical proficiency to diagnose and manage these conditions. More disheartening still, despite decades of advancement in rare disease care, only 5% of rare diseases worldwide have approved therapeutic treatments, subjecting patients to enduring physical suffering and psychological distress.
Jointly initiated by the China Primary Health Care Foundation, the Institute of Journalism and Communication at the Chinese Academy of Social Sciences, the Organizing Committee for the Public Welfare Activities of Nobel Laureates’ Home, and the Foundation for Science Popularization and Prevention Education of Major Diseases, the team behind *Chinese Doctors* launched *Rare Lives*, the first domestic documentary focusing on rare diseases. The film strives to vividly portray the real-life circumstances and current status of diagnosis and treatment for patients with rare diseases in China. The production team visited top-tier Grade A tertiary hospitals, including Peking Union Medical College Hospital, West China Hospital of Sichuan University, Peking University First Hospital, Beijing Children’s Hospital affiliated with Capital Medical University, Children’s Hospital of Fudan University, The Children’s Hospital affiliated with Zhejiang University School of Medicine, and Tianjin Medical University General Hospital, uncovering moving and thought-provoking stories between doctors and patients dealing with rare diseases. These stories vividly illustrate the struggle against rare diseases: a battle against the cruelty of fate, a fight against the finiteness of life, an transcendence of the limitations of medicine, an embodiment of the highest value of physicians, and an exploration into the unknown realms of life. However, in the long-standing confrontation between humanity and rare diseases, what is even more touching is the tenacious will to survive and the powerful vitality that emerge when facing life-threatening predicaments.
A documentary, a story, a life—we have witnessed the resilience and courage of many patients with rare diseases. Despite the physical and psychological suffering caused by their conditions, these individuals have never relinquished their tenacious pursuit of life. They continually explore various treatment options, confronting their illnesses with optimism and a proactive attitude, thereby challenging the very limits of life.
We have also witnessed the professionalism and sense of responsibility demonstrated by physicians. In the face of rare diseases, they continuously explore new treatment methods and regimens, never relinquishing any opportunity to save patients, while providing selfless care and support. This professional ethos and commitment profoundly underscore the critical importance and value of physicians in the fight for life.
The warmth of humanity and respect for life are the most profound themes of this documentary. In the face of rare diseases, we cannot predict the end of life, but everyone has the right to receive respect and care for their life. This documentary profoundly reflects society's attention and calls for patients with rare diseases, and also allows us to see the helplessness and vulnerability when facing rare diseases.
“Rare Lives,” a documentary, has received strong support from the China Primary Health Care Foundation, the Institute of Journalism and Communication at the Chinese Academy of Social Sciences, the Organizing Committee for Public Welfare Activities of Nobel Laureates’ Home, and the Foundation for Science Popularization and Prevention Education of Major Diseases. As a key component of health science popularization under the China Primary Health Care Foundation’s “Phase I Public Welfare Project for Rare Disease Science Popularization and Education,” the project also saw the participation of numerous major international and domestic pharmaceutical companies, which contributed their care and strength to the public welfare science popularization and development of rare disease diagnosis and treatment in China.
“Rare Lives” is more than just a documentary chronicling medical stories; it is a work that reflects society’s attention to and advocacy for vulnerable groups. Every individual has the right to respect and care for their life, and patients with rare diseases are no exception. We need greater attention and support to help sustain these lives. It is hoped that the release of this documentary will draw wider public attention, evoke social resonance and action, and encourage more people to join the efforts in the diagnosis and treatment of rare diseases, thereby providing greater support and assistance to patients with rare diseases!