Month: June 2017

I talked a while ago about the fits and starts with developmental delays. Jojo will make a big leap, and then we will go for a while with seemingly no progress. We’re living in a leap right now and it is so fun. And it is thanks to this fantastic little contraption. Jojo has mastered this scooter and now is getting around on her own. This has been a game changer. Her curiosity to explore the word is unfolding at a rapid pace.

There is a cause and effect dynamic that while hard to articulate, is easy to observe. The more she can move and explore on her own, the more her intellect shines through, and the more she tries to communicate. She talks all the time, most of which is unintelligible, or what we call babble. Words are surfacing clearly more and more (fork up!) which supports my hypothesis that she has been speaking English for the last year, and the low tone in the muscles that support speech obfuscate what she’s saying.

When Jojo’s brother was first crawling, we had to baby proof like crazy. He got into everything. Seriously, everything. We left all the baby proofing in place, thinking Jojo wasn’t far behind. We had to get this huge obtrusive gate for our stairs, as we have stairs going up and down from the main floor. I’ve been thinking of taking the gate down recently. Then bam! We need it! Jojo is scooting right up to it. She’s opening kitchen drawers, getting out all the toys and not cleaning up. I left a basket of folded laundry on the floor by the stairs and she pulled it all out and threw it around. I’ve never been so pleased and amused to refold a load of laundry.

When our first kiddo got into things “he wasn’t supposed to” I was irritated. I would never have let him tear apart a basket of folded laundry. Which now in hindsight seems absurd. If you have to choose between a neat, orderly home and a kid that wants and is able to explore, well that is a very easy choice to make. Because life is messy, and who cares if your little munchkin adds a little more mess. So to Jojo I say: explore your world, make a mess, figure things out, go, do, pull, push, try, fail, try again, laugh, try something else, scream in frustration, try again, clap and smile, and just keep going. It is all right here waiting for you. I will refold one thousand loads of laundry for you.

 

We got the results from Jojo’s MRI and there is good news and not surprising news. Thankfully there is no bad news. First the good: there is no structural damage to her brain or spine. Translation, Jojo does not have brain damage and has never had a stroke.

The not surprising news: there was a non-specific finding. What does that mean? It is a fancy way of saying there is something abnormal and nobody knows what it means. Sounds familiar, right? Like the variances of unknown significance in the genetic testing. So Jojo continues to befuddle the medical community.

The non-specific finding: there are perivascular spaces in the corpus callosum. Translation time again. Perivascular spaces are little pockets of fluid that normally occur around the blood vessels in the brain. They are normally in the basal ganglia, cortex, and mid-brain. They are not normally in the corpus collosum, which is just below the cortex and connects the right and left sides of the brain.

There is a group of metabolic disorders this finding is to which this finding has been associated. Mucopolysaccharidosis. Don’t research this on the internet, it is terrifying. It is weird because it doesn’t fit for Jojo. This wasn’t on her doctor’s radar at all. Most of the problems associated with these disorders have been ruled out for Jojo. And it didn’t show up in the genetic test. So most likely, this will turn out to be nothing, or nothing that anyone can make a diagnosis from. Or maybe some mild, rare variant of Mucopolysaccharidosis. The next step is to do another blood draw for full metabolic testing, which we are doing tomorrow. Her neurologist is thinking of this not as an answer, but just another sign post indicating where to go next.

Meanwhile Jojo continues to get stronger and stronger, which is a much better indication of her prognosis than a non-specific finding on a scan. Go Jojo go!