The Real Game

We've known for the past month that Bridget has had a sharp decline in motor ability, seizures, cognition and speech. After numerous intricate tests, Dr. Smith met with us today and went over the results. He has had a few other doctors consult with him, as well. As far as all her tests, he's fairly certain that
Bridget has a degenerative neurological/chromosomal disorder called
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). You can google it, as did our doctor with us. This is a good medical website http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl
there's also a support group/website http://www.bdsra.org/#

Basically, the lysosomes in her cells are collecting the garbage (which is their job), but not getting rid of it. She's lacking a specific enzyme. When you read about the symptoms, one that doesn't actually fit Bridget is vision loss, although she has acute visual sensitivity (hence, the photo sensitive seizures). We are also waiting to have the test for the specific enzyme she is missing.

We're going to research the hell out of this as is our doctor. We're going to find the best doctor, hospital, treatment (which could be a clinical trial) there is.

Our angel, little bunny girl is doing well right now...gaining weight under the influence of steroids, which continue to help her with motor control. She's having less seizures (which are so very brief, but there nonetheless) and being very vocal about her wants and needs. She's even using some of her signs again.
We honestly live one day at a time. Sometimes, life just makes you see things in a whole different light.

We, of course, thank you for your kind thoughts and prayers for our beautiful Bridget.

1 comment:

Deborah said...

So many prayers for you all.
Debby and John