Friday, August 6, 2010

The Latest on Klaw!

Okay...I've been waiting to cover Klaw's latest & greatest doctor appointments until I had as much information as possible.

I'll start with the easy stuff:  He is just over 16lbs and just over 25".  He is growing exactly like he should be and everyone from his pediatrician to the geneticist are very happy with his growth and development.  So far, he seems to be a little ahead of average on the development chart...much to my dismay.  I am not ready for a mobile Klaw.  However, Chris & I are both overachievers, so I guess it's understandable.  He started having some issues with reflux, so he's been getting a little rice cereal added to his Monogen at every meal. Thankfully, this was enough to help him out and we haven't had to move on to medicine.  He still has to eat at least every four hours, so I am feeding him on demand throughout the day and then setting my alarm for every 4 hours at night.  Once he hits the 5 month point, we should be able to go 5 hours between feedings.  I cannot even begin to explain how much I am looking forward to that extra hour at night.

Our pediatrician wants us to start introducing Klaw to slightly thicker rice cereal with a spoon...Klaw just wants to rip the spoon out of my hand, kick the bowl over & gag himself.

Okay, now for the more technical stuff:  Klaw's biochemical workup was great.  His c14 levels are...are you ready for this?...NORMAL!!!!  YES!!!  NORMAL!!!  His l-carnitine levels are also right at the normal level.  This is music to my ears because this is basically confirmation that the formula & pantothenic acid supplement are working.

We also sent his blood off for a DNA workup.  He has the V283A mutation, which has been reported fact, he has a double copy of it, which means he got the SAME mutation from both Chris & me.  Naturally, I asked the genetics counselor if this meant we were related and she assured me that it did not mean that we were secretly first cousins but that somewhere in our background, we most likely share similar ethnic ancestry (not necessarily relatives...I asked again!!!).  They found another variation that has not been reported before and they do not believe it will bear any clinical significance (fingers crossed).  Our next appointment is in October and they will be able to let us know if there are any clinical symptoms that correlate with V283A at that time.

Now, for everyone who knows me...I can't wait until October.  I really can't wait knowing that I have the full power of Dr. Google with me!  So, I did a little searching and from my not-so-scientific research, it looks like this particular mutation is fairly common in ASYMPTOMATIC patients.  It's not always asymptomatic and his secondary variation could definitely be a factor, but how often do you find potentially good news doing a google search regarding something medical???

And since he's so freaking cute...
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