Monday, October 13, 2014

Neurologist Appointments Come and Go...

Bexley had her 2 month follow up with Neurology and it actually went well overall.  It was probably the best neurology appointment we’ve ever had regarding his assessment.  To sum up the content that was discussed on his end…

He was very happy with her social development since the last time we were there.  Right away he noted that she was very attentive to his presence and tracking everyone as we discussed her status.  As Lindsey and I went through Bex’s past several months, he was pleased with all of the progress.  He upped her dosage of Topamax, which was expected, and told us we wouldn’t have to be back for another 4 months.

Here is the part that was interesting.   He kind of surprised us by giving us the results of her genetic testing today.  The good news is that one of the urine tests that was initially run when she was a month old and always came back weird...came back completely normal this time, so we are happy about that. The Epilepsy Panel came back inconclusive at this point.  There was a variation on one of her genes, which could mean something or could mean nothing.  We had to follow up with Genetics to see what they recommended.  

Lindsey called to talk to the genetic counselor later today to get a little more clarification on these results.  The counselor explained that in order to have the disorder associated with this gene...Bex would have to have two mutations, thankfully, she has none.  However, since she does have a variance on this gene, there are additional blood and urine tests that they want to run to explore if they can figure out any more about what the variance on this gene might mean. We are going to take her in tomorrow morning to get her blood drawn (again) and give another urine sample.  Those results should be back in about 2-4 weeks.  Anyways, the genetic information is all kind of confusing, but I guess the good news is that at this point, it didn't come back with a conclusive diagnosis.

I do want to say that there was one part today that made my day.  When the neurologist explained the genetic testing, I, of course, had to ask questions regarding the variance.  As I was asking them, Bex was sitting on Lindsey’s lap next to me and reached out to me and smiled.  I bent over and let her touch my face and she smiled bigger.  This may sound impractical, but it was almost like she was trying to tell me something.  I’d like to think she wanted to say, “You don’t have to worry about this stuff, Dad.  No matter what, we will figure it out and I’ll be okay.”  I actually got a bit choked up when she was doing that.  Maybe it was nothing and just a silly thought in my head, but it was one bright spot that helped make it a better day.

Donuts with Daddy!

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