Nearly a year ago now Will had an evaluation done at Children's Hospital in Aurora, Colorado by a developmental pediatrician and her team of therapists and a psychologist. They all looked at him and asked him to do things. The only thing Will wanted to do was open and close the various doors in the unit. It was so hard to get him to do anything. We had to tell them that he can do more than he is showing you now. And they had a zillion and one questions all about everything from our family history to pregnancy history to Will's history. It was an exhausting day. It feels really strange to have people poking and prodding your child as if he were a specimen to behold. I had to remember the goal was to find out what exactly is going on with him and if there is anything else we should be doing, and I guess this is how it's done.
So why did we want to have Will evaluated? Mainly I really wanted to know what is going on with him. He is in a gray area for many things. He could have this, or he does this sometimes, etc. I thought maybe he has some kind of brain damage or something. Or maybe there is a genetic condition. I had read tons of times about how early intervention is key and I wanted to make sure there wasn't something we were missing. I'm one of those people who really want to know I guess. I just want to know! It may not even change anything, but I just can't stand to leave a stone left unturned.
The results of this evaluation were official diagnoses of childhood apraxia of speech, global developmental delay, intellectual disability (formerly known as mental retardation). I couldn't stand that last one. It's as if they were telling me my son would never amount to much. They told us to get him into the Special Olympics. They gave me a handout with this poem called "Welcome to Holland." If you have time, read it here. It's a nice sentiment and all, but not really comforting at the time. I suppose it may be more meaningful down the road. I still don't really believe my son has an intellectual disability... or might not be very severe... or maybe he will grow out of it. He is very far behind his peers at this point, but I see intelligence in his face. I see a boy who can't make his body do the things he wants it to.
From this evaluation Will was referred to several different doctors and tests. We spent a good deal of time in Aurora over the fall and winter. He was ordered evaluations by Genetics, Ophthalmology, and Neurology. They ordered a full body bone scan, front and back; and a brain MRI to look for anything unusual. He also had urine and blood work done for a metabolic panel.
The Genetics evaluation was the one I was most looking forward to. They dissect your child and lives even deeper, but it's nice to see actual results in the end. I found it funny that they said he had slight dysmorphic facial features, mainly his big smile. I wanted to ask, "well have you seen his dad or his brother?" All three have that same large smile! -Same thing with his tall, lanky body. Genetics ordered a microarray of his DNA and we waited and waited for 5 months for the results. At this point I was searching for every possible genetic condition that he could possibly fit into. I made myself batty waiting. I thought it was taking so long because they were examining it even deeper. I didn't really understand much about genetic testing at the time and I honestly still don't. It turned out the results were "lost in the mail" for a couple of those months. Nice! I actually asked Will's usual pediatrician if he had gotten anything from them and he was the one who told me they found no concerning findings. The doc was looking on his little computer trying to tell me what everything means. It was kinda funny. I did end up getting the official report that went into greater detail. I'm glad to know he doesn't have a genetic disorder. However, that leaves even more unknown.
Will saw an ophthalmologist from Children's who had an amazing bedside manner. I loved that old dude! My mom came with us to that appointment and I think the doc enjoyed that. Will's eyes looked normal. I was worried about Will's eyes because his pupils tend to be really large while everyone else in the room's look the same. There was no explanation for this and, in fact, they were normal size and reacted perfectly during the exam, of course.
The worst part of this whole workup was the bone scan. I couldn't stay in the room for this. Will hates being confined or held down in any way. He screamed bloody murder for a good 20 minutes while the techs got it done. It was ridiculous. I was crying in the hallway by the time it was over. When the lead tech came out to tell us it was over, all four people in there were sweating and did not look happy. This leads me to wonder about post-traumatic stress. Why does Will scream like that when anyone unfamiliar comes close? Why will he not lay flat on his back? Why will he not let me cut his hair without throwing a raving tantrum? Why does it take three people to hold him down to cut his toenails? A lot of this has to do with his monster sensory processing disorder, I'm sure. I hope all these things aren't going to cause some bad problems for him as he gets older. I think he feels the loss of control greatly. He doesn't understand why we are doing this to him. We aren't trying to hurt him.
Finally, Will had the brain MRI under sedation. This showed two things of note: 1) An old brain bleed; and 2) A Chiari I malformation. The brain bleed looked old, something that happened during birth or right after birth and was punctate. I have no clue as to how this happened. It isn't in a region of the brain that controls speech or development and the neurologist was not concerned. It is yet another mystery. Now, the Chiari malformation I can write much more about.... so I'm going to do that in my next post. It's a complicated and sometimes controversial condition. A link to some general info is here to get you started if you're interested.
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