一个11个月大的卡迪夫女孩 最初被误诊 现在用化疗、手术和即将进行的移植 与罕见的遗传性免疫障碍HLH抗争 An 11-month-old Cardiff girl, misdiagnosed at first, now fights rare genetic immune disorder HLH with chemo, surgeries, and a pending transplant.

来自卡迪夫的11个月的女孩Billie Frankcombe在显示红色耳朵和喉咙后,最初被误诊断为病毒感染,但后来出现了严重症状,包括高烧、黄麻和变成“浮躁”。 An 11-month-old girl from Cardiff, Billie Frankcombe, was initially misdiagnosed with a viral infection after showing red ears and throat, but later developed severe symptoms including high fever, jaundice, and becoming "floppy." 2025年9月,她住院并被诊断患有血友生物学淋巴骨细胞病(HLH),这是遗传突变造成的罕见、威胁生命的免疫障碍。 In September 2025, she was hospitalized and diagnosed with hemophagocytic lymphohistiocytosis (HLH), a rare, life-threatening immune disorder caused by a genetic mutation. 发现父母双方都是承运者。 Both parents were found to be carriers. Billie目前正在接受化疗和多次手术,并将在纽卡斯尔的一家专科医院接受骨髓移植。 Billie is now undergoing chemotherapy, multiple surgeries, and will receive a bone marrow transplant at a specialist hospital in Newcastle. 尽管她心脏病发作到208,但她已经稳定并开始一种新的治疗疗法,其副作用较少。 Despite a critical episode where her heart rate spiked to 208, she has stabilized and begun a new treatment regimen with fewer side effects. 她的家人发起了一次筹款活动,以支付他们在长期逗留期间的医疗费用和生活费用。 Her family has launched a fundraiser to cover medical and living costs during their extended stay.