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.
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| Donuts with Daddy! |
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