This Saturday Marian and I are flying to Maryland to attend the Patient Focused Drug Development Meeting for Niemann-Pick Type C. I,...

We have some exciting developments! These months have been a whirlwind. We are seeing so many incredible things and Marian teetering on...

On our way to Chicago for her 12 month assessment. When I was little I was pretty sure I’d be on tv one day. My cousin Gina and I used to...

Marian is singing! This is huge. When Marian was a baby she would babble, smile and communicate, but if asked to do something "on demand"...

This morning Marian had an ultrasound. Sounds pretty painless, right? If I were to chat with someone casually and they asked what I did...

It's been just over six months since we got the diagnosis, and almost six month since Marian started treatment. This time last year,...

When Marian turned one I did not know if she would live to be two. That sounds like an exaggeration, it’s not. I only shared this thought...

Marian is the youngest patient in the world that we know of to be receiving this treatment via IT (spinal fluid). Another title holder is...

Marian has ultra high frequency hearing loss. We sat in the little room together for the hearing test. Not to brag but I could hear all...

I sometimes would sit at night looking at charts for NPC. There's a white line for pre-neurological symptoms, a grey line for...