TVB 星期日檔案｜我兒確診罕見病｜ 無線新聞 TVB News

Summary

The script narrates the struggles and resilience of families with children affected by Duchenne Muscular Dystrophy (DMD), a rare and currently incurable muscle-wasting disease. It details the emotional journey of diagnosis, the physical challenges faced by the children, and the supportive measures taken by families and communities. The story highlights the importance of physical therapy, education, and a positive outlook, as well as the formation of a patient organization to provide mutual support and advocate for better resources.

Takeaways

• 😔 The script discusses a rare genetic disorder with a low incidence rate of one in five thousand, causing muscle atrophy and currently no cure available.
• 📜 Upon diagnosis, the shock and despair of the parents are profound, especially when realizing the severity and progression of the disease for their children.
• 🔍 The parents turn to the internet for information, only to find the lack of treatment options and the grim prognosis, which adds to their emotional turmoil.
• 🚶‍♂️ The disease primarily affects males, with a prevalence of one in every 3500 to 5000 newborn boys, but there are rare cases in females as well.
• 👣 The progression of the disease includes difficulty in climbing stairs, frequent falls, and clumsiness in running and jumping, eventually leading to a loss of mobility.
• 💔 The most severe impact is on the heart muscle, where heart failure can lead to sudden death, which is a significant cause of mortality for these patients.
• 🏥 Current treatments are limited to steroids and physical therapy, which can slow down the rate of muscle degeneration but do not provide a cure.
• 👨‍👩‍👧‍👦 The emotional journey of the parents is complex, involving feelings of guilt, acceptance, and the need to adjust to the reality of their child's condition.
• 🏫 The children with the disease are often enrolled in special schools that provide physical, occupational, and speech therapy to help them maintain their abilities for as long as possible.
• 👦 The script features a 22-year-old patient named Le Tian, who, despite his diagnosis at a young age and the rapid progression of his disease, has managed to attend university and maintain a positive outlook.
• 👨‍👩‍👧‍👦 The family dynamics are highlighted, showing the support and care provided by parents, siblings, and the community to ensure the best possible quality of life for the affected children.
• 🏊‍♀️ The importance of physical activity, such as swimming, is emphasized as a means to delay muscle degeneration and maintain the patients' physical abilities.
• 🤝 The formation of a patient organization is described, which aims to provide support and advocacy for families affected by the disease, showing the power of community and shared experiences.

Q & A

什么是罕见病？

罕见病是一类患病率非常低的疾病，世界卫生组织将罕见病定义为患病人数占总人口的0.065%~0.1%之间的疾病或病变。全球已知的罕见病超过7000种，其中约80%是由于遗传缺陷所导致。在中国，罕见病的患病人数约为2000万。

罕见病患者在中国的现状如何？

中国目前约有2000万罕见病患者，每年新增患者约20万。他们面临着诊断难、治疗难、用药难的三大难题。但近年来，中国政府积极推进三级预防策略防治出生缺陷，健全出生缺陷防治网络，并通过政策支持和医保目录调整，提高了罕见病用药的可及性和可负担性。

什么是杜兴氏肌肉营养不良症？

杜兴氏肌肉营养不良症是一种遗传性肌肉疾病，患者天生肌肉细胞缺乏一种酵素，导致肌肉无法正常运作。这种疾病主要影响男性，每3500至5000名初生男婴中就有一名受到影响。患者会逐渐失去行动能力，并且心脏肌肉也会受到影响，可能导致心力衰竭。目前尚无法根治，但通过类固醇和物理治疗可以减缓肌肉退化速度。

罕见病患者家庭面临哪些挑战？

罕见病患者家庭面临的挑战包括应对疾病带来的身体和情感压力、寻找和负担治疗费用、处理日常生活中的特殊需求，以及应对社会对罕见病的误解和歧视。家庭成员需要投入大量时间和精力来照顾患者，同时还要努力维持正常的生活和工作。

如何支持罕见病患者和他们的家庭？

可以通过多种方式支持罕见病患者和他们的家庭，包括提供情感支持、帮助他们获取医疗资源和信息、参与和支持罕见病相关的慈善活动和组织、推动社会对罕见病的认识和理解，以及倡导政策层面的改变，以改善罕见病患者的生活质量和治疗条件。

中国政府在罕见病治疗方面采取了哪些措施？

中国政府在罕见病治疗方面采取了多项措施，包括将一些罕见病药品纳入医保目录，降低患者的经济负担；建立全国罕见病诊疗协作网，提高罕见病的诊断和治疗能力；支持罕见病药物的研发和创新，提高药品供应保障；以及开展健康教育和预防工作，减少罕见病的发生。

罕见病患者的寿命如何？

罕见病患者的寿命因疾病类型和治疗条件而异。一些罕见病患者在得到及时和适当的治疗后，寿命可以接近正常人群。然而，有些罕见病由于缺乏有效的治疗方法，可能会影响患者的预期寿命。例如，杜兴氏肌肉营养不良症患者在接受治疗后，寿命有所延长，但仍然较短。

罕见病患者在教育方面有哪些特殊需求？

罕见病患者在教育方面可能需要特殊的支持和适应，包括个性化的学习计划、辅助工具和设备、以及对教师和同学的疾病教育。学校可能需要为这些学生提供特殊的教育资源和支持服务，以确保他们能够平等地接受教育。

罕见病患者如何进行日常活动和自理？

罕见病患者在进行日常活动和自理方面可能需要特殊的辅助工具和设备，以及家人或专业护理人员的协助。职业治疗师可以帮助患者训练生活自理能力，并设计或推荐适合的辅助用具。患者和家人也需要学会乐观面对生活，寻找适应自己能力的方法来完成日常活动。

罕见病患者的心理状态如何？

罕见病患者可能会经历各种心理挑战，包括对疾病和未来的恐惧、对自身能力的限制感到沮丧、以及对社交活动的限制感到孤独。家庭成员和医疗专业人员的支持对患者的心理健康至关重要，帮助他们建立自信，积极面对生活。