Cleaning a Toilet

Cicily was a little quiet and I hadn't seen her for a few minutes, so I asked Maya to go see what she was up to. Maya comes back, laughing and says, "Mom you're going to want to see this, come on." I followed her to the bathroom and this is what I found.

How many Moms get the chance to feel sincere joy at a scene like this??? I love it for a few reasons: 1. She somehow reached all those things and manipulated them appropriately. 2. She knows what to do with a toilet brush and toilet paper. I've never taught her that. We know she's cognitively on target, but I always love seeing proof! 3. She was LOVING it! Loving cleaning a toilet.

My Nurse

This is my very own nurse Kelly. She comes to play with me everyday except for Wednsdays and Saturdays. She also takes my temperature and listens to me breathe. I love playing with Kelly everyday, I wasn't ever nervous around her like I am some new people. I like that she wears glasses like me! Kelly is learning all about me and my little extras, today she even changed my trachy. Hopefully she can go to school with me in October to keep me safe. Thanks for being in my life Kelly!

White matter specialist appointment update

We took Cicily to see Dr. Bonkowsky in Salt Lake City this week. He is a PhD/MD who researches white matter diseases (leukodystrophies - I'm going to have to get used to spelling that one!) He confirmed that Cicily does have hypomyelination (an absence of the white matter/ myelin coating her brain). He also was somewhat surprised to see her abilities given her limited white matter. From what I understand (which is not a lot, as I'm learning yet another set of medical jargon), hypomyelination is caused by an underlying leukodystrophy. According to Dr. Bonkowsky, 30-50% of leukodystrophies are undiagnosable at this point and none of them are treatable/curable. The United Leukodystrophy Foundation has some good information: http://www.ulf.org/ Cicily's leukodystrophy is "static" though, meaning she should not get progressively more severe.
Dr. Bonkowsky suggested 5 more tests in addition to the other ones her doctors here have already done to identify the leukodystrophy or what causes her hypomyelination. The good doc also enrolled Cis into his research pool to use her case in future research and inform us if there are any new developments.

So Cicily has "Treacher-Collins - like syndrome" and a currently unknown leukodystrophy. It's a novel combination and Cicily will show us all how they affect one another and what she can do inspite of it all.

Glasses Girl!