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ST Medical Mysteries

Medical Mysteries

Looking towards gene therapy to give baby Ginny a normal life

Ginny at five months, smiles at familiar faces and recognises the voices of her parents but her condition resulted in her not able to lift her head, sit up, suck or swallow properly, and has a weak cough.
Ginny at five months, smiles at familiar faces and recognises the voices of her parents but her condition resulted in her not able to lift her head, sit up, suck or swallow properly, and has a weak cough.

Medical Mysteries

Cracking the code: Diagnosing rare medical conditions can take up to 15 years

The team of medical "investigators": (from left) Portraits of Ms Shreya S Shetty, Case Management Officer, Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat – National University Children's Medical Institute (KTP-NUCMI), National University Hospital (NUH); Adjunct Associate Professor Chan Yee Cheun, Senior Consultant, Division of Neurology, Department of Medicine, NUH; Dr Lau Kin Mun, Senior Resident, Division of Neurology, Department of Medicine, NUH; and Adjunct Associate Professor Chin Hui-Lin, Senior Consultant, Division of Genetics and Metabolism, Department of Paediatrics, KTP-NUCMI, NUH.
The team of medical "investigators": (from left) Portraits of Ms Shreya S Shetty, Case Management Officer, Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat – National University Children's Medical Institute (KTP-NUCMI), National University Hospital (NUH); Adjunct Associate Professor Chan Yee Cheun, Senior Consultant, Division of Neurology, Department of Medicine, NUH; Dr Lau Kin Mun, Senior Resident, Division of Neurology, Department of Medicine, NUH; and Adjunct Associate Professor Chin Hui-Lin, Senior Consultant, Division of Genetics and Metabolism, Department of Paediatrics, KTP-NUCMI, NUH.

Medical Mysteries

Mother of two suffered falls, double vision and memory loss because of rare condition

Ms Poonam Choudhary, (right) 43, a home baker; and her sons (from left): Aayansh Choudhary, 11; and Aarav Choudhary, 13.
Ms Poonam Choudhary, (right) 43, a home baker; and her sons (from left): Aayansh Choudhary, 11; and Aarav Choudhary, 13.

Genomics for Kids in ASEAN programme to set up registry to further tackle rare diseases in region

Ms Abigail Chua (left) and Ms Raphaella Gautama, who were both diagnosed with rare conditions in 2019.
Ms Abigail Chua (left) and Ms Raphaella Gautama, who were both diagnosed with rare conditions in 2019.

Medical Mysteries

Saving face: He’s had four major operations since he was 1½ to make him look ‘normal’

jucrouzon/ST20260115_202635200685/Ng Sor Luan/Mr. Tobie Goh, 22, who underwent surgery for Crouzon syndrome.
jucrouzon/ST20260115_202635200685/Ng Sor Luan/Mr. Tobie Goh, 22, who underwent surgery for Crouzon syndrome.

Medical Mysteries

Life on a teaspoon: S’pore teen with rare condition drinks cornstarch water to stay alive

Kayden Soh, 13, who has Glycogen Storage Disorder Type 1A (GSD1A), with his mother, Ms Yong Xiao Ping. GSD1A caused Kayden's body to prioritise essential functions over growth, making him much smaller than his classmates.
Kayden Soh, 13, who has Glycogen Storage Disorder Type 1A (GSD1A), with his mother, Ms Yong Xiao Ping. GSD1A caused Kayden's body to prioritise essential functions over growth, making him much smaller than his classmates.

Medical Mysteries

This 35-year-old’s immune system attacks her own body, causing lumps to grow in her left breast

Mrs Kinnari Bhosale is recovering from surgery to remove the benign tumours in her left breast caused by granulomatous mastitis, a rare, benign inflammatory breast condition that mimics breast cancer, making diagnosis challenging.
Mrs Kinnari Bhosale is recovering from surgery to remove the benign tumours in her left breast caused by granulomatous mastitis, a rare, benign inflammatory breast condition that mimics breast cancer, making diagnosis challenging.

Medical Mysteries

She had her daughter through IVF, ensuring the baby would not inherit her genetic condition

Housewife Felicia Lee (left) was diagnosed with Familial Adenomatous Polyposis when she was 12. Seen here with her husband Mr Cedric Ng and their one-year-old daughter Phoebe who was conceived through IVF.
Housewife Felicia Lee (left) was diagnosed with Familial Adenomatous Polyposis when she was 12. Seen here with her husband Mr Cedric Ng and their one-year-old daughter Phoebe who was conceived through IVF.

Medical Mysteries

Life rewired: Deep brain stimulation curbs excessive, involuntary movements in boy with rare disorder

An 11 year-old Singaporean, known here as Adrian, is the first paediatric patient with GNAO1, a rare genetic neurological disorder, in Singapore and  Asia to undergo Deep Brain Stimulation surgery for this condition. Adrian (with his back and his mother Felicia, 42, looking at a baby photo of Adrian.
An 11 year-old Singaporean, known here as Adrian, is the first paediatric patient with GNAO1, a rare genetic neurological disorder, in Singapore and  Asia to undergo Deep Brain Stimulation surgery for this condition. Adrian (with his back and his mother Felicia, 42, looking at a baby photo of Adrian.

Medical Mysteries

Rare skin condition gives 9-year-old girl skin like KPop Demon Hunters character

Phoebe Hu with her doctors (left to right) Dr Nikki Fong, Dr Valerie Ho and Dr Enrica Tan at KK Women’s and Children’s Hospital on Oct 21.
Phoebe Hu with her doctors (left to right) Dr Nikki Fong, Dr Valerie Ho and Dr Enrica Tan at KK Women’s and Children’s Hospital on Oct 21.

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MDDI (P) 046/10/2025. Published by SPH Media Limited, Co. Regn. No.202120748H. Copyright © 2026 SPH Media Limited. All rights reserved.