We're still kickin'

Yea, it's been a long time. We have been super busy with all kinds of things since Anna was born. She's 5mo old now... which means i've haven't blogged in about 5mos lol...sorry about that :)
Heres a quick summary of our life since then:
Jan 1-15, mom and charles visit
Jan 17-Feb 5, matt's mom visits
matt goes back to work for note quite a month
matt goes to career course from mar 4 through apr 17
apr 27-may 18 we were on vacation back home to NC - which was busy w/ appts, visiting, and unfortunately a funeral for my Great Grandmother Kate. Our visit had a sad ending, but we very much enjoyed being home for a while.
Now....we've been recovering ever since we arrived late on the 18th.

In the midst of all that we've been working hard trying to get some answers on Anna's health. She's not sick, she just hasn't gained weight worth a flip (she's only gained 4lbs since birth, she was 13lbs, 7oz last wk), she has several characteristics that point to a genetic syndrome of some sort, her joints pop and crack when she's pick up or moved, which points to Ehlers-Danlos syndrome or a similiar connective tissue syndrome/disorder (on top of the one were trying to figure out w/ the charcteristics), and she's hypotonic (low muscle tone - her head still lags back when she's picked up from laying down, you have a have a good grip on here when you pick her up under her arms, etc). She hasnt had any problems really, like being sick or anything, but depending on whats going on w/ her other stuff she could have problems down the rd. Anna has had a lot done since birth:
4-5chest x-rays
2 EKGs
1 echocardiogram
numerous bld pressures on all limbs
IV w/ antibiotics about 8hrs after birth (in case of infection causing her rapid breathing)
numerous bld draws (liver test, cbc's for infection, karotype, noonans test, FISH test - DiGeorge Syndrome, etc)
been photographed and had all tests and workups sent to a Ped Geneticist in Hawaii
Seen a Ped. Geneticist in Greenville,NC while we were home
Had a bld draw there are well for 2 more Noonan's tests and a CGH (chromosomal genome Hybridiztion)
2 shoulder/clavicle xrays
back/spine x ray
etc

she's been through a lot, although not as much as our friend's son Michael, he's Anna's age, and he's gone through a lot of similar testing, but more so, and is having heart surgery today.

We still do not know what Anna's diagnosis (or maybe that should be plural) is/are. It could be just one thing going on, or it could be more. The geneticist in NC is thinking its more apt to be a gene deletion/addition/duplication/mosiacism then Noonans. Anna seems to have a lot of the characteristics of Nooanans and Turner Syndrome, however, she doesn't quite have the "look". The bld draw for the latest 2 tests, was May 13, and they said it'll take about 2mo, so we're looking around mid july before we hear anything.
Anna does have some developmental delays, mostly motor skills, and a lot of that can be linked to the low muscle tone. She was referred to EDIS for early intervention services and starts physical therapy next wk. She will get that weekly to build up her muscle strength and her skills. We are very excited to be getting that started and have heard wonderful things about the therapist Anna will be work w/ (one lives a block away from us and her name is Ana!)

As you can tell, we've been very busy w/ dr appts and such. Max is doing well and talking up a storm. He's a busy lil monster. Matt is getting back into the swing of things at work (he really hasn' tbeen there since Feb), and I'm just trying to keep my head above water and breathe :) nah, i'm not that bad off lol, just busy busy busy. I still haven't even finished unpacking. And of course, doing stuff like this is why lol : ) I get on here to check my email and 3hrs later i'm still on the computer, only now i'm blogging/shopping/fill in the blank.

So, with that, i'm signing off. If you have any questions about Anna or wondering what else we've been up to, just ask :P I know some of you haven't heard anything or much about whats been going on here, and thats something Matthew and I decided to hold off on until we knew more and felt more comfortable with the information, since we were still trying to digest it all ourselves.

I'll try and update a lil better, but i always say that and it doesn't really happen. so just watch out every now and again and hopefully you'll see a new one. And Keep baby Michael in your prayers!!!