The story of Deborah
This is my son Rowan he was diagnosed with Tay-Sachs disease in April 2020, when he was 11 months old. He started to manage to sit unaided, then all of a sudden he couldn’t. We also noticed he wouldn’t focus with his eyes, he couldn’t roll over and could take any food that wasn’t liquidised. After an eye test at the hospital a cherry red dot was discovered, he then was referred for a blood test as the cherry red dot meant he had a metabolic condition. The blood test diagnosed Tay-Sachs. Since then he has had a gastrostomy and unable to eat anything orally as he has lost the ability to swallow. He also has epilepsy and has steadying having clusters of seizures. He is involved with the Metabolic and Pallative care team at the Royal Hospital for Children. We are grateful for every precious minute with our handsome boy, although it is very difficult day to day as symptoms can come on very sudden with Tay-Sachs.Â