Thursday, September 13, 2012

It's official...

For those of you that know Nate & I you're really going to kick out of this one. They've officially given Eves knees syndrome a name. No longer will I have to say Evey has 17q21.31 microdeletion syndrome, quite the mouthful. Drumroll please ... the name of Evey's syndrome will now be called...


Oh sweet victory. Our daughter's syndrome has the word cool in it, could it get any better? I was rooting for Johnson syndrome or Seventevey, but this is actually better. It's named after the doctor who has been at the forefront of all the research with the 100 or so people with this syndrome. His a pretty amazing guy and regular gets on the facebook group page to ask us our opinons and to let us know about more research being discovered. So kudos to him, I think the syndrome should be named after him.

One of the most surreal things to me while in contact with other parents with kids with this syndrome is seeing how much they all look alike. It's like looking at Eveys' brothers and sisters, but knowing they're scattered across the world and belong to different parents. Its crazy to see that they look like their parents but that they all have similar features that make them appear from the same family tree. What a blessing modern technology is for us. I can't imagine being in the dark and not knowing other families and their Koolen journeys out there. Just saying the word Koolen is so much fun, I'm as pleased as punch.

Just a little update on Owen - we had his first parent conference today since starting his second year of preschool at the Pingree Center for children with Autism. He's officially at age level for almost everything except fine motor and is now being integrated into the "typical" preschool that they have on campus with "typical" kids. I would have never guessed 2 years ago that our flapping and head banging non-verbal boy would be where he's at today. Early intervention and the amazing staff at the Pingree Center have helped our little dude in so many ways. We are now having to think about mainstream options for kindergarten next year and what the future plans are. What a good dilemma to have, choosing a school for your son to be mainstreamed in. One word - blessed.

Update on Evey - she has gained a pound and a half since her g-tube surgery and is thriving. The older brothers and sister are starting to pay attention now that I lay her on the floor with them. Below is a small glimpse of what happens when she's on the floor with them - if Evey can make it through the Zoey gauntlet, she can make it through anything.


  1. so KOOL! Hehehe. Someone out there knew you weren't going to be happy with the other names that had been discussed.

  2. LOVE the name :) Destiny? Couldn't have been put to a vote and turned out any better :) SO glad you guys are doing so well and that I was able to chat with you yesterday. LOVE your guts :)