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Friday, August 24, 2012

Finally Some Answers....

The last couple of months have been a constant search for information.  If this is the first time you have been here, you'll want to start here.

Connor's pediatrician had suggested we have a consult with Dr. N in the genetics department due to some delays he was experiencing so we made the appointment in February for the end of June and after some rescheduling we finally got in to see him on August 16th.  Little man had several tests run: blood work, urinalysis, EKG(results:  normal), and an x-ray of his left hand to make sure the bone age was equal to his age(results:  normal).  It was a very long & tiring day.  Especially since I didn't realize the visit would last four & a half hours and we hadn't eaten since before we took Hadley to school.  Dr. N & his assistant A were VERY kind & thorough.  Dr. N gave me so much information regarding what the MRI showed.  I'm still a bit miffed that his neurologist didn't cover all of these things.

Yesterday, was our appointment to go over the genetic findings.  I was going alone because Darrell had an out of town meeting scheduled and wouldn't be able to be there.  God works in all the details though because he actually had an earlier flight than what he thought and missed it.  He wasn't able to get another flight out until much later so he was able to be with us.

Connor has been diagnosed with 22q11.2 deletion syndrome, otherwise known as DiGeorge Syndrome.  Basically, there's a deletion of a small piece of chromosome 22 located near the middle of the chromosome designated q11.2.  You can go here for more information.  Darrell and I went and had blood work done to determine if either of us have DiGeorge Syndrome.  It's highly unlikely as there's only a 10% chance.  This syndrome is considered autosomal dominant which means that a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition.  This is a picture of Connor's 22nd chromosome.


We also went back to cardiology for an echocardiogram, which is basically an ultrasound of the heart.  Connor was not very happy about this and he was not cooperative.  We knew from our visit last week that Connor has a slight murmur, but Dr. M, the cardiologist, confirmed today that the murmur is caused by an Atrial Septal Heart Defect or  ASD.  It sounds much more frightening than it is.  Check out this video that describes ASD.  Dr. M considers Connor's ASD to be moderate in size and he will probably need to have it closed as soon as he meets the weight requirement which is around 32 lbs.  Until then, we just keep an eye on it.  The good news is it will only get smaller as Connor  grows and he has no physical restrictions or limitations.  It is my understanding that once it is closed, he should have no other heart problems.  

Does he still that Pachygyria/Incomplete Lissencephaly(smoothness of the brain)? Yes.  Is it due to the DiGeorge Syndrome? Maybe. I don't know if we'll ever know for sure.  The diagnosis we got from both doctors is probably the best one we could have gotten so even with all of the challenges we are facing, I am very pleased. 

We will be visiting an Opthamologist(Dr. E) & an ENT(Dr. G) next week. How about a picture of my handsome little dude?!?!


Did I mention that HE IS WALKING NOW?!?!
video

Don't worry.  I was still watching him as I was recording Hadley.






2 comments:

The Fabulous Foster Family said...

I am glad you are getting some answers. We will keep you guys in our prayers. With Dillan I've learned to take things one day, minute, issue at a time :)

Jenna said...

So glad that you guys are getting answers. Praying for you as you continue to receive them!