主要工作/ What we do

1. 患者支持 / Patient Support
1. Patient Support

项目1：举办系列专家讲座

Program 1: Expert Seminar

为缓解患者家庭应对疾病的焦虑与迷茫，自2020年至今卓蔚共举办20场专家讲座，围绕疾病与治疗方法（5场）、共患病干预（6场）、心理疏导（4场）、融合教育（3场）、遗传咨询（2场）等主题，为家庭提供科普与安慰，并答疑解惑，累计观看人次逾5万次。

To alleviate the anxiety and confusion among families of DS patients, we have organized 20 expert seminars since 2020. These seminars have covered topics such as  disease and treatment methods (5),  intervention for co-morbid diseases (6), psychological counseling (4), inclusive education (3), and genetic counseling (2). They aim to provide families with information and comfort, answering their questions and clarifying doubts, accumulating over 50,000 views in total.

项目2：出版家庭照护指南

Program 2: Guide to Home Care

为给患者家庭提供系统、充分、可靠的照护信息，2024年邀请临床专家领衔编写《中国Dravet综合征家庭照护指南》图书，全书总计6万字。本书基于《Dravet综合征诊断与治疗的中国专家共识》，致力于成为DS家庭的疾病小百科、照护经验参考书和社会资源梳理汇总的小宝典。

To provide families of DS patients with comprehensive, thorough and reliable care-giving  information, we invited clinical experts to lead the creation of  Guide to Home Care of Dravet Syndrome Patients in China in 2023. This book, which is based on the Consensus of Chinese Experts over Diagnosis and Treatment of Dravet Syndrome.  It aims to serve as an encyclopaedia on the disease, a reference book for care-giving experiences, and a compilation of social resources for DS families.

项目3：开展康复打卡项目

Program 3: Rehabilitation Check-in Initiative

为了降低家庭外出参与运动干预活动的门槛，降低共患病蹲伏步态对生活质量的影响，2023年组织干预专家拍摄患儿康复动作训练示范视频，参与家庭由家长录制视频后上传至打卡平台，由专业老师持续对完成质量予以点评。

To reduce the barrier for families with DS patients participating  outdoor exercise intervention  and to mitigate the impact of co-morbid crouch gait on the quality of life, in 2023, we organized intervention specialists to create demonstration videos for rehabilitation exercise  for DS patients with the condition. Families participated by having parents record and upload videos of their children performing the exercises to a check-in platform, where professional instructors provided ongoing feedback on the execution quality.

项目4：创建家庭喘息驿站

Program 4: Breathing Space

为了加强区域家长的互相支持，在北京、南京、深圳等地举办“饭团”聚会，家长见面交流、为后续倡导活动凝聚合力；2023年举办“饭团plus”——“喘息驿站”项目：增加心理工作坊，邀请专业老师和志愿者带领患儿开展融合活动，并配备救护车现场待命，发挥了短暂解放照护者、放松赋能的作用。

To bolster the mutual support among parents of DS patients within specific regions, off-line gatherings were held in cities such as Beijing, Nanjing, Shenzhen, facilitating face-to-face interactions and unity for upcoming advocacy efforts. In 2023, we introduced an enhanced version of this initiative, the “Breathing Space” program, which included psychological workshops. We invited professional counselors, and volunteers to lead inclusive activities for the children with DS, and ensured ambulances were on standby at the venue. This initiative played a critical role in providing temporary relief for caregivers, offering them relaxation and empowerment.

2. 社会倡导 / Society Advocacy
   2. Social Advocacy

项目1：卓蔚宝贝护航计划

Program 1: CHN Dravet Syndrome Patient Support Research

为了解患者群体需求、明确志愿者工作方向，于2022年开展“卓蔚宝贝护航计划调研”。调研从诊断、治疗、急救、用药、康复、融合、再生育、社会支持等方面梳理当前挑战，567个患者家庭参与调查。根据调研结果，向相关机构发起倡导，旨在改善患者家庭生存环境。

To better understand the needs of the patient group and clarification of the work direction of the patient support group, the “CHN Dravet Syndrome Patient Support Research” was launched in 2022. The research involved 567 families of DS patients and addressed the current challenges in diagnosis, treatment, emergency response, medication, rehabilitation, inclusion, reproduction, and social support. Based on the findings, we advocated to relevant institutions, aiming to enhance the living conditions for families of DS patients.

项目2：疾病知晓社会提升

Program 2: Greater Public Awareness of Disease

为了提升社会公众对疾病的知晓度，组织制作漫画、动画、视频等多形式解读疾病，并通过传统媒体报道和新媒体传播等多渠道提升疾病的社会认知。

To increase public awareness of the disease, we have created and disseminated disease-related content in various forms, such as cartoons, animation and videos. This effort aims to enhance societal understanding of the condition through both traditional media coverage and new media channels.

项目3：就近急救改善计划

Program 3: Nearby Emergency Response Improvement Program

为了提升基层急救水平、增加患儿家庭及时获得癫痫持续状态急救的机会，制作疾病知晓与急救信息卡。通过快递免费发放给患儿家庭，并由患儿家庭将权威、专业的疾病知识带给家门口医院的相关医生，完善院内急救流程、促进院内急救效果提升。

For the Nearby Emergency Response Improvement Program, we aim to improve emergency medical response at the  grassroots level and  increase the chances for DS patients to access timely emergency care for status epilepticus. We produced and distributed, free of charge via courier, information cards about the disease and emergency procedures. These cards enabled families to share authoritative and professional knowledge with doctors in their local hospitals, thereby improving in-hospital emergency processes and outcomes.

3. 研究协作 / Research collaboration
   3. Research Collaboration

项目1：国际家庭与专家研讨会

Program 1: International Dravet Syndrome Family & Professional Conference

2022年，由中国健康促进与教育协会、卓蔚主办，北京大学第一医院儿科提供学术指导和支持的首届中国Dravet综合征家庭与专家国际研讨会于线上成功召开。会议邀请到12位来自美、加、澳、法、英等国家(含最早报道疾病的Charlotte Dravet教授)以及国内关注Dravet综合征领域的顶尖医学、药学专家，畅谈Dravet综合征领域的全球诊疗前沿与研究进展；邀请医药政策专家、康复干预专家，与患者家庭围绕照护、康复、入学和成人转衔等主题举行座谈交流。活动获得中国网、生命时报等十余家媒体关注报道，1.8万人观看了全网会议直播。

In 2022, the first China International Drave Syndrome Family and Professional conference, co-organized by China Association of Health Promotion and Education and CHN Dravet Syndrome Patient Support Group, was successfully held online with academic guidance and support from Pediatrics Department of Peking University First Hospital. The conference featured 12 leading medical and pharmaceutical experts in the field of Dravet Syndrome around the world, including countries such as  U.S., Canada, Australia, France, UK, and notably included Prof. Charlotte Dravet, who first described the disease. Discussions at the conference covered the latest advances and research progress in global DS diagnosis and treatment. Additionally, medical policy experts and rehabilitation intervention specialists engaged in dialogue with families of DS patients on topics such as care, rehabilitation, schooling.

项目2：疾病负担队列研究

Program 2: Cohort Study on Burden of Disease

2023年，为提高全社会对Dravet综合征的关注，助力Dravet综合征药物准入，并为国家制定改善Dravet综合征患者及其家庭生活质量相关保障措施提供客观数据，由北京大学医药管理国际研究中心史录文教授团队、香港中文大学赛马会公共卫生及基层医疗学院董咚教授团队、北京大学第一医院小儿神经内科张月华主任、北京儿童医院神经内科田小娟副主任医师与Dravet综合征患者代表共同设计并开展《Dravet综合征患者家庭疾病负担调研》。研究包括社会人口学基本特征、疾病情况、治疗情况、疾病经济负担、照护者负担、患儿生存质量六部分。截至2月25日，逾420个家庭已完成调研。研究期间完成了PedsQL癫痫量表的汉化工作，量表及调研结果文章将陆续撰稿完成并发布。
In 2023, to increase societal awareness of Dravet Syndrome, facilitating the approval of DS medications, and provide objective data for national policy aimed at enhancing the quality of life for DS patients and their families, a comprehensive cohort  study titled Study on the Burden of Disease on Families of Dravet Syndrome Patients was launched. This collaborative effort involved Prof. Shi Luwen’s team from the International Research Center for Medicinal Administration at Peking University, Prof. Dong Dong’s team from the Jockey Club School of Public Health and Primary Care at the Chinese University of Hong Kong, Prof. Zhang Yuehua, Chief Physician of the Pediatric Neurology at Peking University First Hospital, Dr. Tian Xiaojuan, Associate Chief Physician of Neurology at Beijing Children’s Hospital, and representatives of DS patients. The study covered various aspects including sociodemographic characteristics, disease conditions, treatment conditions, economic burden of the disease, caregiver burden, and the quality of life of DS patients. As of February 25th, over 420 families had participated in the survey. The study also included the localization of the PedsQL Epilepsy Scale, with the intention of completing and publishing the scale along with the research findings.

项目3：自然病史队列研究（拟启动）

Program 3: Cohort Study on Natural History of Disease (Pending Start)

2024年，为更加科学深入地了解疾病与开发药物，拟启动Dravet综合征自然病史研究，短期将完成患者疾病情况相关的横断面研究，长期将建立患者队列，跟进疾病进展。其中，自然病史研究包括对DS患儿步态的关注，了解步态异常的发生概率、进展过程及影响因素，探索干预措施对步态发展的影响，对改善患儿家庭长期生活质量具有积极意义。

In 2024, to gain a deeper and more scientific understanding of Dravet Syndrome and the development of medications, a study on the natural history of Dravet Syndrome is slated to begin. This research aims to initially complete a cross-sectional study detailing patient disease states and, over the long term, to establish a patient cohort to monitor disease progression. The study will particularly focus on the gait of DS patients, investigating the likelihood, progression, and influencing factors of gait abnormalities, as well as examining the effects of intervention measures on gait development. This has significant potential to positively affect the long-term quality of life for families of DS patients.