智旭老师长期关注罕见病领域，她将带我们走进一个既陌生又重要的世界。在那里，百万分之一的概率背后是无数家庭100%的重量。让我们屏息聆听那些被忽视的微光如何照亮生命的希望。 北京大学第三医院妇产科生殖医学中心研究员（正高级）、医 师、博士研究生导师。担任中国妇幼保健协会胎儿心脏病防治专 委会副主任委员，中国优生优育协会胎儿医学专委会常务委员等 多项社会任职。长期致力于妇产科生殖遗传咨询、预防罕见病及 出生缺陷等相关临床与科研工作。 This talk was given at a TEDx event using the TED conference format but independently organized by a local community. Learn more at https://www.ted.com/tedx ...

Group 1 - The first public art exhibition on tenosynovial giant cell tumor (TGCT) was held in Beijing, showcasing over a hundred artworks created by patients, families, healthcare workers, and artists to raise awareness about this rare disease [1][2] - TGCT, also known as pigmented villonodular synovitis (PVNS), is a benign but locally aggressive tumor that primarily affects individuals aged 20 to 50, with a low incidence rate of 1 in 20,000 [1] - The disease can lead to significant limitations in daily activities, work, and social life due to symptoms such as joint swelling, pain, stiffness, and restricted movement [1] Group 2 - There is a significant gap in societal awareness regarding TGCT, and efforts are being made to use art to illustrate the struggles and pain of patients, emphasizing that this rare tumor is closer to the public than they might think [2] - The treatment and management of rare diseases like TGCT require collaboration among government, medical institutions, enterprises, charitable organizations, and society as a whole [2] - The event aims to expand social participation in the awareness and understanding of rare diseases through innovative contributions from the medical field and community engagement [2]

Core Viewpoint - The article highlights the challenges faced by myasthenia gravis patients in China, emphasizing the need for improved diagnosis, treatment accessibility, and social support systems for this rare disease [1][2][10]. Group 1: Disease Overview - Myasthenia gravis is an autoimmune neuromuscular disorder that affects nerve-muscle transmission, with approximately 650,000 patients in China [1][5]. - The annual incidence rate of myasthenia gravis in China is about 0.68 per 100,000, meaning one person is diagnosed every 14.7 years among 100,000 people [5]. - Misdiagnosis is a significant issue, with a reported misdiagnosis rate of 58.3% among surveyed patients [3][5]. Group 2: Patient Challenges - Patients face numerous challenges, including high treatment costs, lack of insurance coverage for essential medications, and social discrimination [10][11]. - Approximately 40.9% of surveyed patients reported having no income, and 46.3% earn less than 5,000 yuan per month, making it difficult to afford long-term treatment [10]. - 70% of patients are unable to work full-time due to their condition, and 29.8% experienced a relapse in the past six months [6][10]. Group 3: Treatment and Management - Advances in treatment have led to a shift from immunosuppressive therapies to "immune resetting," with potential for clinical remission [7]. - New drug developments, such as CAR-T cell therapy, show promise in improving treatment outcomes [7]. - The article emphasizes the importance of timely and appropriate treatment to achieve clinical improvement [7]. Group 4: Social Support and Advocacy - The establishment of patient organizations, such as the Beijing Aili Myasthenia Gravis Rare Disease Care Center, plays a crucial role in providing support and advocacy for patients [15]. - The article calls for a redefinition of myasthenia gravis to enhance public understanding and reduce stigma [15]. - Continued efforts are needed to improve social support systems and reduce the economic burden on patients and their families [14].

Core Viewpoint - The story highlights the resilience and optimism of a student named Lele, who, despite suffering from a rare disease, remains determined to support her classmates during their high school entrance examination and continues to pursue her own dreams through art [5][9]. Group 1: Lele's Condition and Education Journey - Lele was diagnosed with mucopolysaccharidosis, a rare disease affecting her physical development, but she has maintained good academic performance [6][7]. - Her family was initially apprehensive about her schooling, but the school welcomed her and provided necessary accommodations, such as an elevator and a private restroom [7][8]. - Lele's teachers and classmates have shown significant support, with her teacher creating a tailored study plan for her [8]. Group 2: Lele's Aspirations and Support from Peers - Despite her health challenges, Lele expressed a strong desire to take the entrance exam and even prepared a letter of encouragement for her classmates [9]. - Her classmates have learned to appreciate their current circumstances through Lele's determination, with a reserved seat in the classroom for her [8]. - Lele has taken up self-learning in digital art, indicating her ongoing pursuit of personal dreams [9].