Old and new pictures-1st Christmas, Toronto, Standing

Here's a photo from when we first got into the first hotel on our last Toronto trip.



Here are a couple from our first Christmas this year, with Jack's grandma.


Jack "opening" a present


















Shippee and his acoustic baritone
guitar (Thanks everyone!)



















Jack standing at his new toy from his grandma.. with no help at all!!
























One night this week Jack was really yelling at his daddy and trying to grab him!

The scariness of seizures

Jack ALMOST pulled up to standing by himself today, but I didn't push him because he's got a bad cold and a fever that comes and goes. Last night we had a scary episode where he went into an absence seizure and then stopped breathing. He proceeded to get pale and then turn almost blue. Just as I was about to administer his Diastat to stop the seizure he came out of it and started breathing again. ARRRGHHH!!! Now I'm hoping to talk to his neurologist about upping his seizure meds or combining his Keppra with another medicine.

Just too scary...


Here, to lighten the mood...

Jack and Shippee spending some quality daddy/son time together! Taken a few days ago.

Two new things in two days

Ok, so sorry there's no evidence of either of these things. Jack only did each thing once, and wouldn't do them again no matter how much coaxing. You know how stubborn he is!

Yesterday Jack was in his positioning bench facing his toy rack, and after several repetitions of sit to stand with me holding his hand, he was sitting and grabbed onto the top rack of toys and proceeded to pull himself up to standing!! I couldn't get him to do it again, probably because after that first time the video camera was ready.

Today I picked up Jack from my mom's and she told me he went from propping on his elbow to sitting, trying to follow a crinkly potpurri bag! She said she couldn't get him to do it a second time, of course!

GENETICS TEST RESULT

Dr. Seashore called today to tell us Jack's Angelman Syndrome FISH test came back...

DELETION FRICKEN POSITIVE!!!!!!!!!!!!!!!!!!!!!!!!!

Walker, Genetics, and Transition

Today we had the first transition meeting at Jack's future preschool. Everyone seemed very sweet and willing to do whatever they can to adapt the classroom for Jack and meet his therapy needs. It was very encouraging, albeit scary.

I found out today that Jack's multiple genetic tests will take 6-8 weeks to come back, so 5-7 weeks from now. I'm going to start counting down.

Jack's started pushing backwards a little bit in his pony walker. He tends to push with just one foot and go in little circles. It's very cute! Here's a video of it:

SUCCESS AT YALE!!!!

We had our genetics consultation today at Yale with Dr. Seashore and it couldn't have gone better! After some lengthy family history with an assisting doctor and a brief examination of Jack by Dr. Seashore, she told me she would definitely like to test for AS because she thinks he has it. I didn't even have to open my mouth, it was that obvious! She ordered two genetic tests specific to AS and one genetic test and some metabolic tests to test for syndromes that mimic AS. We will probably have to wait several weeks for the results, but it's at least in motion!

Thank you Dr. Seashore!

Meeting Joshua and Family

Last night we drove up along Lake Ontario through a blizzard and rush-hour traffic to the town of Belleville to meet a little boy the same age as Jack who also has developmental delay. It took 2.5 hours, but it was totally worth it! Joshua's family welcomed us into their home and we finally got to see how similar Joshua and Jack were! It was really amazing. Besides having similar delays, ataxia, and the same type of seizures, they both have blonde hair, blue eyes, fair skin, and were both born in April 2006!

Here are some pictures from our time with Joshua and his family.

Jack and Joshua. I think I scared Joshua, barging in and taking a ton of pictures.



Joshua



Joshua wondering who this guy thinks he is chewing on his toys...

I really enjoyed meeting Joshua and his family, and I think Jack and Joshua were glad to meet each other too. Thanks again to Joshua's family for your hospitality!