It's still a waiting game for his diagnosis! When they said that the test would be a while i never in my whole life thought it would take this long! But I am hoping for a great outcome and hoping that we will get our answer's!
We are still waiting to find out if carl has sms or not! It's a pain waiting but before u know it we will have the results back! I am 100% positive he has it but again medical testing is required!
Well our first appointment for Boston has arrived & went! We had a meeting with carl's complete team! Genetics, Neurology, Hematology!
Genetics: well they took 2 hrs to come up with something close to what they think carls has and well they came up with Smith Magenis Syndrome! We will have to wait some time to get the results for the test! Lots of tubes of blood that they had to take! Also had to make appointments for cardiology and have his kidneys and liver checked because SMS patients tend to have defects in the heart, kidneys and liver! Neurology: well they wanted to have him get a MRI and EEG! Not to mention full x-rays ultra sounds and all! Nothing like giving us 2 months full of appointments to get some answers!! Hematology: given that Carl has had the test multiple times ya we had it again! Of course they gave us limits for him and all! Follow up with the doctors will happen when all of the tests come back! So now we wait! We moved so we had to take on a new pediatrician! He looked over carl's medical and realized we weren't getting anywhere with Baystate Medical Center! So he had decided to send us to Boston to some of the best dr's they have! So here is to hoping we get the answer's we want! :)
Carl enjoyed 2 birthday party's! One for each side of the family! Lots of fun, played and had cake and opened of course presents! :) Carl's little sister has arrived! Today at 5:54pm!! Lillee Inez. We won't know what carl will think of his sister till we get home but i am sure he will love her just as much as we do! This christmas will be our last as a family of 3! We are expecting our next bundle of joy a girl in Feb 2010! Carl still enjoyed christmas. He got lots of books, trucks, stuffed animals and clothes! Carl enjoyed Christmas this year!! Had lots of fun playing with the tree and all his presents he got! Giving that carl is 2 yrs old and still has no clue what christmas is all about he really enjoyed sitting with his daddy while opening his presents even though mom and dad had to open them for him! Carl's first year was something! He was such a little peanut but grew quick! lol after the first coupla months of having to change his feedings and the formula he was on he finally got some weight on him! Now the boy loves his food! At 7 mo Carl started showing signs of being delayed! We spent a good amount of time at the drs office wondering what was going on! He was given a diagnosis of Global Developmental Delay till we could get to Genetics in Nov 2007! It's been a great year but a challenging year! |