‘My rare disease left me blind and obese, it took decades to get a diagnosis’

Mihaela Măncilă

Rachael Zimbler has spent the last 14 years learning to live with her rare diagnosis and gradually loosing her sight to Bardet-Biedl Syndrome. She shared her story with Reach for Rare Disease Day , celebrated on February 28 to raise awareness of rare conditions people around the world are being affected by. Rachael’s condition is caused by an inherited gene mutation and causes a range of seemingly unconnected symptoms. Once she was diagnosed “things clicked into place and made sense as to why I