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 our friend Parker who is only six months old and just started it but through an IV to target his liver. Spain allows compassionate...

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 the sounds, but Marian couldn't. She sat in my lap as they played sounds from speakers on either side of her. A little on the left, a...

I sometimes would sit at night looking at charts for NPC. There's a white line for pre-neurological symptoms, a grey line for neurological symptoms and sometimes a blue line for attempted interventions. Sometimes these lines are long, usually when there's no symptoms u...