The First Case of ‘Stone Man Disease’ in Singapore

Even before birth, Raphaella Gautama’s lifespan was already limited. The 20-year-old NTU student is living with an extremely rare condition called fibrodysplasia ossificans progressiva (FOP), also known as “stone man disease.” It is caused by a mutation in a gene that plays a role in the formation of the skeleton in the embryo.

At 13 years old, what seemed like a simple sprained ankle from an accidental fall was revealed by X-rays to have triggered an abnormal bone growth. For two years, doctors struggled to diagnose the cause, until a breakthrough in 2019 when she was diagnosed with FOP after genetic testing. This one-in-a-million disease causes extra bone to form in muscles, tissues, and ligaments, causing her pain, stiffness and limited mobility. As a result, she became bound to a wheelchair and required significant assistance from those around her, facing daily major setbacks in living a normal life.

As daunting as it seems, Raphaella continues to fearlessly pursue her dreams. She is currently taking degree in Linguistics and Multilingual Studies at NTU, following her graduation with a diploma in Law & Management.

Click HERE: https://www.straitstimes.com/singapore/medical-mysteries-the-student-who-is-slowly-turning-into-stone to read more about this mysterious condition and her mindset as she navigates this ‘rocky’ journey.