五岁的霍莉·奈勒患有罕见的巴顿病, 根据NHS的呼吁接受延长生命的治疗, 每天面临150次发作. Five-year-old Holly Nayler with rare Batten disease gets life-extending treatment under NHS appeal, facing 150 seizures daily.

来自埃塞克斯的5岁的Holly Nayler患有CLN2 Batten病,这是一种罕见的致命神经退化性疾病,影响全世界不到2 000名儿童。 Five-year-old Holly Nayler from Essex is living with CLN2 Batten disease, a rare, fatal neurodegenerative disorder affecting fewer than 2,000 children worldwide. 在她三岁时第一次后被诊断出, 她根据NHS协议通过大奥蒙德街医院的大脑端口每两周接受一次布莱内拉注射. Diagnosed after her first seizure at age three, she receives bi-weekly Brineura infusions via a brain port at Great Ormond Street Hospital under an NHS agreement. 虽然治疗将预期寿命延长至十几岁末期并减缓了病情恶化，但霍莉每天仍有大约150次癫痫发作。 While the treatment has extended life expectancy into the late teens and slowed decline, Holly still has around 150 seizures daily. 由于药物的年费50万英和数据有限,NICE最初拒绝长期资金,但上诉延长了获取权限至2026年6月或更早. NICE initially denied long-term funding due to the drug’s £500,000 annual cost and limited data, but an appeal extended access until June 2026 or earlier. 尽管存在挑战,Holly仍然很快乐,被称为“霍利恐龙公主 ” ( Holly the Dinosaur Princess ) 。 巴特滕疾病家庭协会为家庭和研究倡导者提供支持。 Despite her challenges, Holly remains joyful, known as “Holly the Dinosaur Princess.” The Batten Disease Family Association supports families and advocates for research.