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!

CN Tower

We went to the CN Tower last night, which is still (I think) the world's tallest building. There is one being built somewhere overseas that will be higher when complete. We went up to the 147th floor and got an amazing view of the city, the harbor, and lake Ontario. Just thought I'd share some photos!

Here's one from Niagara on Sunday.

Second day in Toronto...

The drive in was fine and now we're here in very cold Toronto. Everything's pretty low-key... except for the black squirrels. What's up with them? Jack did very well at therapy yesterday, and today not quite as well. He seems very tired and just "off" from the traveling and change of routine. He's sleeping more than he ever has his entire life! He did do some amazing standing with his back to Simona's table today. Notice she takes her hands off of him completely!

FINALLY a date for genetic consulation

Our genetic consulation is November 24th at Yale. My job is to convince the dr. there that a test for AS is necessary and that all of his symptoms couldn't possibly be caused by his brain injury, which everyone told us was very minor and would probably only cause him gross motor delay. Wish us luck!!