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.
2 comments:
I'm glad you were able to go to Utah & get another Dr's diagnosis & hopefully he can keep you updated with future developments!
She looks SO CUTE with her new glasses!
I'm sure this has nothing to do with your daughter’s case but one of my sons doctors told me that we needed to get more aggressive about his low weight because being underweight as a baby could lead to low 'white matter'. Just thought I'd throw it out there.
Post a Comment