My name is Annemarie and I created Gaucher’s Chat. I have type 1 Gaucher’s Disease. I’m a web developer and World of Warcraft player. I was diagnosed with Gaucher’s Disease when I was about 6 or 7 years old. I have been on enzyme replacement therapy since about 1991 and doing well on it. No one else in my family has Gaucher’s Disease.
When I was first diagnosed, I was sent to the NIH for testing. While there, it was also discovered that I am a symptomatic carrier for Hemophilia type A. Once that was discovered, all planned biopsies were canceled. I’ve been living with Gaucher’s without many symptoms. I have the enlarged belly and get leg aches, but that’s about it. I started on VPriv in about September of 2010. It is working well for me.
Growing up, my family didn’t have a network to easily reach out to for support. It is my goal to build a community for Gaucher’s patients and family so no one feels alone. Right now, I’m the only person managing and administrating this site. Go me!