My unexpected diagnosis with Gaucher disease type 1

My unexpected diagnosis with Gaucher disease type 1

When most people imagine being diagnosed with a disease, they picture a cold, sterile doctor’s office and a somber physician delivering bad news. But my story didn’t start like that. I was a healthy kid with no red flags, no strange symptoms, and no reason to think I might have a genetic disease. My diagnosis with Gaucher disease in 2020 came completely out of the blue, triggered by my sister’s prenatal genetic testing. I found out by walking in…