We have some exciting developments! These months have been a whirlwind. We are seeing so many incredible things and Marian teetering on the edge of so much more. Marian is three years old now. We celebrated her birthday at a little water park, and again at her school,...
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 watch Adventures in Babysitting on the VCR and rewind the opening montage over and over again, jumping from the couch to the carpet,...
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" you'd get a blank stare - like it couldn't connect. Our very close family friend and speech therapist of thirty years floated the i...
This morning Marian had an ultrasound. Sounds pretty painless, right? If I were to chat with someone casually and they asked what I did today, I'd say, "Marian had an ultrasound this morning," and if asked how it went, I'd say, "fine." But, like everything, there are s...
It's been just over six months since we got the diagnosis, and almost six month since Marian started treatment. This time last year, almost exactly, I was in shock knowing Marian may and likely has a fatal genetic disorder. I was carrying her around everywhere because...
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 with my very best friends because it was so horrible. At the time we knew Marian probably had a storage disorder, but had no idea w...
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...
