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!

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!!

Halloween Party

Jack had fun at the annual MOMS club Halloween Party at the Willington Library. He was dressed up like a doggy and played the part swimmingly! His favorite part of the party was getting to eat a very sugary Halloween cupcake. He cried when it was all gone! It reminded me of GIR on Invader Zim... "I miss the cupcake..."

Count Your Blessings

My thoughts and hopes are with a family in Burlington, CT who have a child in need of a liver and kidney transplant. He has a rare genetic condition. Read more about little Dylan here: http://dylan-ourlittlepickle.blogspot.com/

Jack loves Christmas lights

I put up some new Christmas lights in the kitchen yesterday, not because I like Christmas, but because I like lights. Jack apparently liked them even more than I do, as he spent the entire time at dinner looking up at them and singing at them! I had to get it on video, it was hilarious!

October happenings

Jack really enjoyed some leaves last week, without trying to eat them for once...












Jack stood by himself (without my hands on him) for the first time ever! He was wearing his AFOs and holding onto his toy rack for about five minutes. I managed to capture a small bit of it on video before I got too scared to not be ready to catch him. If you know Jack you know this is huge for him! (Sorry the video is sideways)

Questions and more questions

About a week ago, a mother contacted me on YouTube to comment on how similar our children looked, in the way they move, their mannerisms, and in their general appearance. This woman's child has Angelman Syndrome.

Angelman Syndrome is caused by a non-working gene on the maternally inherited 15th chromosome. Many times the gene has a deletion or incorrect code, which causes the protein the gene codes for to not be made properly. You can read more about Angelman Syndrome at http://www.angelman.org.

I've been researching this syndrome since the mother contacted me, and Jack's symptoms fit the Angelman Syndrome symptoms perfectly. Jack's doctors all assumed his symptoms followed from his brain injury, but there are a few discrepancies I think they may be overlooking:

Jack's brain injury was a PVL and because of the low severity of it, it was predicted that it would only cause him gross motor delay. However, Jack is globally delayed.

Jack has very very fair skin, hair, and eyes. Shippee and I are rather fair, but neither of us have light blonde hair. Lack of pigment is also characteristic of AS.

Jack has an unusually happy demeanor, he is excitable, and he is hyperactive. These symptoms are not common in CP but are symptoms of AS.

Jack LOOKS like a child with AS. It could be a coincidence, but he has a wide mouth with wide teeth, a wide face, wide nose, inset eyes, and a prominent chin like many kids with AS. See for yourself, check out these videos of AS kids: http://www.youtube.com/watch?v=-bCbZvC6LqI, http://www.youtube.com/watch?v=cFLHjnjwCag, http://www.youtube.com/watch?v=9L224ndGqH0, http://www.youtube.com/watch?v=-smToUcC-pw, http://www.dropshots.com/egosch#date/2008-10-11/00:43:59.

What do you think?

Jack's Diagnosis and Background

Jack is two and a half. He was born via emergency c-section on April 6, 2006 and immediately hospitalized for meconium aspiration syndrome. During his three week stay in the NICU, he was given a neurological evaluation because of his irritability. He had high tone, an ultrasound that showed no congenital brain malformations, and an MRI that showed slight brain damage due to lack of oxygen. A neonatologist later told us that based on that MRI, the brain damage seemed to be slight and he termed it PVL (peri-ventricular leukomalasia). This doctor estimated that the damage would only affect Jack's gross motor skills. At four months of age, Jack's neurologist noticed he was not meeting his milestones and Jack was enetered into the birth to three program. At one year of age, Jack was diagnosed with cerebral palsy, though which type he had was unclear. Around age two, Jack's neurologist confirmed that Jack probably has ataxic cerebral palsy, with slight spasticity in his legs. This is what Jack's OT and I had suspected.

Jack is globally delayed by at least one and a half years.
Jack is a happy little boy who continues to progress, at his own pace! We're very proud of him.

New to this...

So I decided to set up a family blog. I guess it'll be nice to let the friends and family we don't see very often know what's going on in our lives!

I'm trying to justify this... I still have mixed feelings about being a "blogger".