by Judith Tan Published on The Straits Times on 15 Nov 2025 Phoebe Hu with doctors (from left) Nikki Fong, Valerie Ho and Enrica Tan at KK Women’s and Children’s Hospital on Oct 21. SINGAPORE - Where the marks on Rumi from Netflix’s animated film KPop Demon Hunters are purple, those on nine-year-old Phoebe Hu’s arms and body are light brown. As a result, she is often bullied in school, with her schoolmates making unpleasant remarks about her skin. Often called “cafe au lait”

by Judith Tan Published on The Straits Times on 15 Nov 2025 Ms Tan Siew Ling, an assistant manager in the innovation division at SG Enable, with her older brother Tan Yan Cai, an IT engineer. SINGAPORE - Life for Ms Tan Siew Ling, 38, an assistant manager in the innovation division at SG Enable, is not only dark, but also silent. Ms Tan lost her sight when she was 10 and, after fully depending on her hearing thereafter to navigate life, she also lost her auditory sense when s

by Judith Tan Published on The Straits Times on 15 Nov 2025 Neurofibromatosis sometimes manifests itself in the growth of thousands of benign tumours on the body and face, which can result in social stigma and misunderstanding for patients. SINGAPORE - Patients with a rare genetic condition called neurofibromatosis have come together to provide emotional, psycho-social and financial support for one another as well as others with the disorder. They have formed a group, called

by 冯凯麟 Published on 联合早报 on 16 Sep 2025 陈琇玲（左二）在朋友鼓励下参与RunningHour举办的“SG60 SwimTogether”活动，成功学会游泳。 （取自受访者脸书） 11岁时完全失明，步入职场后又丧失听力，尽管面临双重残疾，女郎从未向命运屈服，工作之余也尝试攀岩划龙舟，活出精彩人生。 38岁的陈琇玲接受《新明日报》采访时，在朋友李晓思（52岁）的协助下，通过盲文助读器与记者进行交流，分享了她的人生经历。 陈琇玲忆述，视力在10岁时出现异常，上课时无法看清黑板的字，后来经眼科专科医生诊断出患有先天性视神经萎缩（optic atrophy）。她的视力逐渐衰退，11岁时完全失明, 年纪小小就不得不开始学习使用盲人手杖。 “失去视觉后，我原本依靠听觉来补偿，但现在我完全不知道周围发生了什么，甚至不知道自己说话的音量是否合适。”这场巨变一度让她的性格变得更为封闭、消极和紧张。 陈琇玲说，她高度依赖盲文助读器进行阅读和工作，需要将其连接至电脑和手机来感应文字。此外，她也学用聋盲手语字母与朋友沟通。..

Published on The Active Age on 9 Sep 2025 Living with a rare condition can feel isolating — especially when it’s one that’s misunderstood, underdiagnosed, and visibly affects your appearance. That’s why the newly launched Neurofibromatosis Society (NFS) Singapore is such a vital step forward. Co-founded by individuals living with neurofibromatosis (NF) , the group is Singapore’s first patient-led initiative focused on emotional, social and community support for those affect

Published on PR Newswire on 18 Aug 2025 Co-founded by individuals living with this rare genetic condition, the Neurofibromatosis Society Singapore seeks to close gaps in mental and emotional care SINGAPORE, Aug. 18, 2025 /PRNewswire/ -- A new patient-led support group, the Neurofibromatosis Society (NFS) Singapore, has been recently registered with the Registry of Societies to provide emotional, psychosocial, and financial support for people affected by neurofibromatosis (NF

Published on KKH News on 28 Mar 2024 Early detection in primary care grants young patients access to timely support and life-long care. WHAT IS NF1? Neurofibromatosis Type 1 (NF1) is a rare disease caused by a fault in the tumour suppressor NF1 gene, which produces a protein that blocks the development of tumours and cancer. About one in 3,000 people are born with NF1. This condition can affect the brain, spinal cord, nerves and skin, resulting in skin changes and the growth

Published on KKH News on 30 Oct 2023 In Singapore, a rare disease is defined as a condition that affects fewer than one in 2,000 people. Persons with rare diseases are typically identified during the mother’s pregnancy following screening or testing, or at birth due to the presence of congenital anomalies. In some cases, a rare disease may be late-onset, with symptoms only presenting gradually from early childhood, school-going age or even as late as adulthood. Hence, these

by 陈映蓁 Published on 联合早报 on 23 Sep 2023 每年大约有2%至3%的新生儿会受到罕见疾病的影响，其中包括第一型神经纤维瘤病。 （iStock图片） 罕见疾病基金近期将Selumetinib纳入援助基金的治疗选项。该药物有助于管控与第一型神经纤维瘤相关的丛状神经纤维瘤（NF1-PN）。 NF1-PN是什么？能否根治？症状与治疗选项有哪些？竹脚妇幼医院儿科内科部门两名医生逐一解答，并分享个案。 受访医生：竹脚妇幼医院遗传学科顾问医生邝温妍；竹脚妇幼医院血液学与肿瘤学科资深顾问医生陈意佳。 For the full article, please refer to https://www.zaobao.com.sg/lifestyle/health/story20250923-7536753

by Eveline Gan Published on Channel NewsAsia (CNA) on 27 May 2023 Ms Nur Nabilah Zakaria (pictured) has been diagnosed with neurofibromatosis since she was 12 years old. SINGAPORE — Having people steer clear of her is part of the everyday experience of Ms Nur Nabilah Zakaria and her mother Sharifah Zakaria. Just recently, while taking public transport, her 61-year-old mother recalled that a child had stared hard at the lumps on her face and burst out crying. “Some people do

by 王康威 Published on 联合早报 on 21 May 2023 莎拉患有遗传病神经纤维瘤病，手上布满肿块，肿块也导致她失去右手其中两只手指的知觉。她提醒公众这种疾病并不会传染，也希望病患和他们的家属不要忽视任何肿块和疼痛。 （陈渊庄摄） 身上突然出现的斑点和肿块，可能是遗传病神经纤维瘤病的症状，严重的话可能导致长期疼痛、神经损伤，甚至增加患癌风险。国立癌症中心响应全球运动，用蓝色和绿色灯点亮本地标志，提高公众对神经纤维瘤病的认识。　 莎拉（化名，53岁，看护经理）17岁时第一次发现腋下出现一个肿块，求医后被诊断患有第一型神经纤维瘤病（Neurofibromatosis ，简称NF）。 她说：“当时知道后我感到非常震惊和不知所措，虽然是一种遗传病，但家里没有其他人得过，甚至都没听说过这种病。除了身上有一大块浅褐色的斑，我当时也没有其他症状或感到任何疼痛。由于资讯比较不发达，医生说有百分之一的可能性会致癌，除了减缓疼痛也没有其他治疗方法。” For the full article, please refer to h...

Published on National Cancer Centre Singapore (NCCS) on 17 May 2023 Singapore, 15 May 2023 – Affecting millions worldwide, Neurofibromatosis (NF) is a genetic condition that causes tumours to grow on nerves in the spinal cord, brain and other parts of the body. NF includes Neurofibromatosis Type 1 (NF1) and all types of schwannomatosis, including NF2-related schwannomatosis (NF2), formerly known as Neurofibromatosis Type 2. The most common type of NF is NF1, which is estim

by 孙慧纹 Published on 联合早报 on 16 Aug 2022 一型神经纤维瘤患者陈嘉仪说，接受基因测试是为了更了解病因与采取更有效的应对措施。 神经纤维瘤患者大约一半是因为父母遗传并有家族病史，另一半则是在母亲孕期因胎儿体内基因突变而患此病。常见的神经纤维瘤有三种，以一型神经纤维瘤（NF1）最为普遍。本地目前约有30户家庭被诊断患有NF1，但仍有患者未被识别出来，因此本地病况属于诊断不足。医生建议符合任何NF特征的人，宜考虑做基因检测接受评估，以控制病情及了解此病对下一代的影响。 神经纤维瘤（Neurofibromatosis，简称NF）是由特异性基因突变所引起的一组病症。 新加坡国立癌症中心癌症基因咨询服务主任与肿瘤内科高级顾问饶润仪副教授说，大约一半的NF病人是因为父母遗传并有家族病史，另一半或没家族病史但在母亲孕期因胎儿体内基因突变而患此病。 三种常见类型 也在南洋理工大学李光前医学院基因组担任医学副教授的饶润仪指出，以下是三种最常见的神经纤维瘤。 一型神经纤维瘤（简称NF1） 普及率：1：3000 ...