SINGAPORE – Where the marks on Rumi from Netflix\u2019s animated film K-pop Demon Hunters are purple, those on nine-year-old Phoebe Hu\u2019s arms and body are light brown.<\/p>\n
As a result, she is often bullied in school, with her schoolmates making unpleasant remarks about her skin. <\/p>\n
Often called \u201ccafe au lait\u201d spots by doctors, the flat, light-to-dark brown birthmarks that resemble \u201ccoffee with milk\u201d on Phoebe\u2019s skin are the underlying signs of a genetic condition known as neurofibromatosis type 1 (NF1). <\/p>\n
NF1 causes changes in skin pigment, including flat, light-brown spots and freckles on the armpits and groin. It also causes the growth of benign, slow-growing tumours that develop on or under the skin from nerve cells. These tumours, called NF tumours, can appear as soft lumps throughout the body.<\/p>\n
Phoebe\u2019s condition was discovered when she began having pain behind her right ear around March 2023, her mother Pearlyn Goh, 42, said.<\/p>\n
She was brought to KK Women\u2019s and Children\u2019s Hospital (KKH), and an MRI scan, three doctors and a genetic test later, Phoebe was diagnosed with NF1.<\/p>\n
\u201cApart from the brown spots on her arms and parts of her body, the scan also showed that Phoebe has a tumour behind her right ear and another near her brain stem,\u201d Madam Goh said.<\/p>\n
She told The Straits Times that her research revealed that children with NF1 often have special needs related to learning, such as difficulties with attention and memory. However, Phoebe does not exhibit these difficulties, which is a relief, she shared. <\/p>\n
Dr Nikki Fong, a geneticist with KKH, explained that there is a 50 per cent likelihood of NF1 being passed on if one parent has it.<\/p>\n
\u201cIt can also occur spontaneously from a new gene change,\u201d she said, referring to what is also known as gene mutation. <\/p>\n The \u201ccafe au lait\u201d spots on nine-year-old Phoebe Hu\u2019s arm \u2013 a cause for her becoming a victim of bullying in school.<\/p>\n ST PHOTO: HESTER TAN<\/p>\n<\/figcaption><\/figure>\n Subsequent investigations revealed that Phoebe\u2019s father James Hu, 43, a taxi driver, also has the condition, though his was not inherited from either of his parents.<\/p>\n Like Phoebe, Mr Hu has the \u201ccafe au lait\u201d spots only on his arms, legs and body, \u201cexcept for this large lump at the back of my head, which is a benign NF tumour\u201d, he told ST.<\/p>\n \u201cAs I did not know what it was, it was not detected until adulthood,\u201d he added.<\/p>\n According to Clinical Assistant Professor Chiang Jianbang from the Cancer Genetics Service at the National Cancer Centre Singapore (NCCS), the adult patients seen at NCCS typically fall into one of two categories: those who were not diagnosed during childhood and those who, despite an initial childhood diagnosis, did not pursue follow-up care as they grew older. <\/p>\n Dr Chiang said that as young NF1 patients transition into adulthood, they often feel capable of managing their own health and symptoms, leading them to believe that regular follow-up appointments are no longer necessary. <\/p>\n He said that it is important for NF1 patients to be regularly monitored as they are at a higher risk for hypertension and various cancers. <\/p>\n \u201cBy the age of 50, the risk of cancer in NF1 patients can be as high as 40 per cent, compared with the 5 per cent in the general population,\u201d he said. <\/p>\n Treatment for NF1 focuses on supporting healthy growth and development in children and early management of complications.<\/p>\n Dr Enrica Tan, a senior consultant with the Haematology and Oncology Service at KKH, said: \u201cPhoebe was also in a lot of pain, and the pain was making her sick.\u201d<\/p>\n The painkillers she was previously prescribed were not effective and also impacted her appetite. <\/p>\n Phoebe is now prescribed selumetinib, a medication that treats the benign tumours \u2013 called plexiform neurofibromas \u2013 in children with NF1. It stops the growth of the tumours and shrinks them, improving pain and other symptoms.<\/p>\n \u201cShe is good at taking her meds and takes them like clockwork. She wakes up early to ensure she takes her medicine at 6.45am before school on weekdays, and at 7pm. On weekends, she wakes up a bit later and takes them at around 9am without prompting,\u201d Madam Goh said.<\/p>\n Paediatric dermatologist Valerie Ho, a senior consultant at KKH\u2019s department of dermatology, manages Phoebe\u2019s skin condition as the medications prescribed \u201chave potential side effects such as dry skin, eczema and acne when they become teenagers\u201d. <\/p>\n As Phoebe grows, she would have to be monitored for other manifestations of the condition such as scoliosis or the curvature of the spine, one of the more common deformities of NF1.<\/p>\n \u201cThis is why children with NF1 need to be managed by a multidisciplinary team, which also includes a psychologist to manage the psycho-social impact of the condition,\u201d she added.<\/p>\n Madam Goh explained that to help Phoebe understand that apart from her father and herself, there are others who also live with NF1, the family attends events organised by the Neurofibromatosis Society (NFS) Singapore and by KKH. NFS is a patient-led group formed to support individuals with neurofibromatosis.<\/p>\n \u201cThere, she has made friends with other children who have similar spots to hers. At least she knows she is not alone in this fight against her own \u2018demons\u2019,\u201d her mother said.<\/p>\n<\/div>\n<\/picture><\/div>