Lucca's Genetic Appt

Today was the LONG awaited appt with Lucca's Geneticist, Dr. Perszyk...whom I absolutely LOVE after today! He has such AWESOME bed-side manner and seems to really lay it out there pretty straight-forward for you.
Our last visit with the neurologist we had a "more specific" type of bloodwork drawn to basically tell us more information about what is going on on Lucca's chromosome 22. They told me that the bloodwork would be back in PLENTY of time for the genetic appt. When I called on Tuesday they told me it wasn't back yet and it would be at LEAST another week... Another week?! what happened to the plenty of time before the appt??? So of course this made me worry that the doctor would not have enough information to go on today, to be able to tell us what we were wanting to know....what is the future outcome, what does this mean, etc? I had faxed over Lucca's previous bloodwork to him a few weeks ago so he would hopefully be able to look it over and have some idea of what was going on BEFORE our actualappt.. My biggest fear was that after waiting over 3 months for this appt that we were going to to in and him say "well since I am just meeting him I will need to go research the results and see you back in a few months to discuss"..
So...the bloodwork obviously did not come back yet.. we go to the appt and he says "well unfortuantely I really need the results of that more specific bloodwork to be able to tell you exactly what is going on. This previous bloodtest just tells us that he has an extra piece of material on the long end of chromosome 22.. but i need to know exactly where, how long or short it is, which genes it is located between, etc. " ahhhhh just what I was afraid of :( So we have an appointment with him in February...but he DID say that when the results do come in to have them faxed to his office and he will research and get everything put together and give me a call to say what he knows.. and THEN he will have me and Randy get bloodwork done because he will know exactly what to test for..

What we DID find out:...
Lucca had an MRI of his brain back in July... Our neurologist told us at the last visit that everything looked fine that there was just a little bit of extra fluid around his brain... So I happened to mention to Dr. Perszyk today that Lucca had an MRI and everything came back normal, but it still seems to us that he doesn't really understand what we are saying to him, and it is almost like his brain isn't sending signals to the rest of his body to do certain things, (ie pull up, clap, crawl, walk, move in a certain way..) like his body is physically capable of doing certain things, but its like his brain isnt sending the signal to move his leg, or pull up or move a certain way and he would crawl,etc. So he asked if the results of the MRI mentioned anything about mylenation (sp). Luckily I had the results in my purse and let him read it...he says"well right here it says that his brain is only partially mylenated, so basically his brain isnt fully developed, so his brain is probably trying to send the signals, but they arent going fast enough to make it to the other parts of his body... Usually by age 1 the brain is fully mylenated and thats how they know to crawl, walk and do certain things because their brain is sending the signals to do so... his isn't fully mylenated yet like it should be, so hopefully when it does get fully mylenated (which he thinks in around 6 months...hopefully!) that this brain will start sending those signals..." HOPEFULLY HE IS RIGHT!

Where we are right now...
basically waiting for the bloodwork results to come back so they can be faxed to Dr. Perszyk and he can research and put together a chart that tells us exactly where and what is going on with his 22nd chromosome. Then Randy & I can get specific bloodwork done to tell if one of us carry that gene.. Lucca has an eye appt in the morning to make sure everything is going on ok there. I will update more as soon as I get more.. Hoping the bloodwork actaully comes back next week like they are now saying. And HOPEFULLY, if the Dr is right about the mylenation finishing up within the next 6 months or so, Lucca will start trying to crawl and walk! And we are HOPING that along with is, his cognitive development will improve as well :)