Auri's Suspected Disease
By Patrick Winters On January 12, 2019
At this point I think everyone has heard the term "leukodystrophy," and I thought it might be good for Natalie and I (and you) to hear where Auri is at. I'm not sure how long we've been concerned about her, but I think we always noticed that she hasn't develop as fast or early as Max and Lennox. For the most part, though, she hit her milestones until about 12 months (middle of November). She failed her assessment for gross motor development (crawling, pulling up, walking, etc.). We don't know if it's related, but around Christmas we all got sick, Auri with fever. We were all beat up until after New Years, and we noticed that Auri didn't bounce back. It really took the wind out of her and she started struggling. We looked at some old pictures and videos and realized she had been regressing. She doesn't sit up by herself, can't really get out of sitting or do it unassisted, and was generally struggling to crawl around. We took her to the E.R. at Duke on Monday. She had an MRI that shows abnormal white matter changes in her brain that "raise concerns for leukodystrophy." They took spinal fluid samples, blood, etc. and sent them out for analysis and genetic testing. So far, every test for something simple has been normal; but the ones for the scary stuff won't send results for a week or two. We're just waiting. Unfortunately, we're preparing for this likelihood because everyone involved in her case has been in agreement that it does look like a leukodystrophy. By now you've googled; you can imagine my terror.
In any case, I figured you might be relieved to see that my butter bean is laughing and playing. We're spending a lot of quality time with her. I can't control what's going to happen, but I'm happy if we noticed early because she's still a lot of fun. https://photos.app.goo.gl/FJHAFF6WFh2cjavw6
I'm grateful for all of your love. Just wish the best for her and my boys.