Monday, October 26, 2015

Genetics and Complex Care

I think it's been a while since we've actually had anything hopeful to say, but as we wrap up October, we've been moving forward and feeling kind of positive about things.

We did see Genetics, although it was not the most productive visit.  Disappointing, since we've been waiting so long to get in there.  Their only idea, really, was to test him for Russell Silver Syndrome - a congenital growth disorder.  We'll see how that turns out, although I don't expect any big answers there.  He doesn't look like an RSS kid.  I don't even think Genetics expects answers.  On the up side, Aidan thought the Genetics waiting room was the most fun waiting room he's seen in a long time.

Being silly at Genetics
Thankfully, the Diagnostic/Complex Care Center visit went better.  So much better.  I have no idea how we got in to see Dr. M so quickly, but I'm thankful for whatever backstage witchcraft and wizardry made it all happen.  Anyway, the plan from our visit was to have Dr. M's office coordinate all of our future inpatient stays, which should hopefully make a big difference in our overall level of frustration every few months.  He will also be contacting Genetics to suggest that they dig deeper on the PHKB mutation.  The bigger (scarier?) thing he's going to work on is having CHOP's Mito team review Aidan's chart get their thoughts and see if we can start evaluating him for a Mitochondrial disease.  I don't know exactly how to feel about this, so for the moment, I'm going to just focus on being hopeful that this is a new idea that we haven't explored yet, and maybe it will take us in new directions that will give us betters ideas for treatment.

Aidan has been so tired lately.  I feel like all I hear from him is that he's too tired to play, or too tired to go anywhere.  I don't know what's going on.  His night sleep isn't good - but it's certainly not worse than it has been.  Weekend visits to Nikki's new house have been pretty sleepy - I just don't know how to make this better, and it breaks my heart.

But we do still get to see this Aidan - our sweet little goofball, who brings so much light into our lives.  I'll do anything - take him anywhere, to see anyone - to get just a bit more of this face into our lives.

Silly :)
The rest of this month will see Aidan at CHOP for his swallow study and his GJ tube change.  Hopefully, he'll be back on his feet and feeling good in time for Halloween - he's got big Trick or Treat plans with his best buddy.

Still working to schedule our trip to Pittsburgh.  I know they've been reviewing his records, and hope to get in to see them soon.

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