Wednesday, September 17, 2014
The purpose of my Paints and Pistols blog (which probably needs to be renamed) is to inform interested parties about my family: keeping friends and family updated on our goings-on, informing curious parents and family members about various medical terms in the plainest of speech, and hopefully making readers laugh 6% of the time.
I started an informational series on Optic Nerve Hypoplasia, which is a brain condition affecting the eyesight (among other things), and my younger son Hayes has it. But I've neglected to post since the very beginning of the summer, and I have realized over the past months that focusing solely on ONH on the blog is misleading to (most) people who don't know Hayes and what's going on.
Hayes is dealing with quite a bit more than ONH. At the very end of summer / beginning of the school year, Hayes had his second MRI, which showed 'white matter loss' in his brain. To put it so simply that it may be mostly incorrect, the 'grey matter' in your brain is where information is stored, and the 'white matter' is where information is transmitted, or carried and connected, throughout the brain so you can use it. Hayes' 'white matter' did not show up in the amount that is normal for an almost-two-year-old brain. We don't yet know if this is because these parts of his brain are completely without function, or because of something called 'delayed myelination', which essentially just means that his brain hasn't made the connections yet that would make that part of his MRI picture show up the way it should. For this reason, he'll have another MRI in a year, to see if his brain continues to develop or stagnates.
We know Hayes is globally developmentally delayed, meaning that he reaches his 'milestones' across all categories (mobility, social, cognitive, etc.) more slowly than most other children. Which would obviously explain why certain connections are not showing up on an MRI picture. What we don't know is WHY (he has no official diagnosis that explains his disabilities and for this reason we are in the sloooooow process of genetic testing, which has not given us any knowledge thus far except that we cannot depend on our local labs to get blood work to the places the blood work needs to go) or WHAT WILL HAPPEN NEXT. (But who really does, anyway,..)
About a week ago, we began to notice Hayes having some spasms, and they seem to have increased in frequency since. These instantaneous spasms last for a mere second, and usually involve Hayes falling forwards or to the side, dropping his head and/or hunching his shoulders/raising or extending his arms. He seems confused afterwards. I called our neurologist (brain specialist) the first day I noticed him doing this more than once (he may have done it in isolation the previous week/weeks, but I'd assumed he'd startled himself), and we were able to get in for an EEG on Tuesday (yesterday). An electroencephalographic (EEG) reading notes the electric impulses the brain makes during different activities. We hoped to catch some of Hayes' brain waves during spasmic activity, but he did not have an outright spasm during the 30-45 minutes of the EEG, most of which recorded his brain during sleep. (More aptly named EEN: extremely expensive nap. <<< This is that 6% I was talking about.)
Though we're still waiting on the official EEG results, I was able to video Hayes having one of his spasms last night and emailed it to our neurologist this morning. Based on the video, our neuro ordered a 24 hour surveillance study of Hayes, to better determine these 'concerning' episodes (his words), despite anything our EEG results show/do not show when we get them over the next few days. This appointment is yet to be scheduled (I should hear tomorrow, or so they tell me as I keep calling).
There are a few conditions/types of seizures we're discussing that I'll expand on in more detail once I know for sure what I should put out for every one to read. We're concerned, obviously because some seizures can slow and regress development, rendering the victim with brain damage. In Hayes' case, we are especially wary of this and ready to begin measures to control seizures (if they are, in fact, seizures) as his brain is already working around other developmental issues/damage.
We (Koby, Knox, Hayes and I) covet your prayers during this time of testing and waiting - prayers for answers, peace, and effective treatment for Hayes. Thank you for your encouragement, support, and concern for our sweet son.