Monday, September 29, 2008

We're back!

Well, we're a couple of days behind. Too tired, sick kids and no DSL all contributed to the delay in postings. (By the way, the only hotels that wanted to charge for $9.95 for one night of DSL were the "3 Star" ones: The Sheraton and the Marriott in Madison; the "lesser quality" hotels all provided free DSL.)

You might have noticed that I'm blogging from home on a school day, while I was getting ready this morning McK threw up a couple of times. She seems fine now - maybe too much "yummy" food yesterday or nerves about today. She really liked "living all together in one room" at the hotel. Between missing that, losing her new "best friend", Maddie, and both McK and Mommy going back to school, it could be too much stress.

CurlyGirl came out of surgery fine with very interesting Band-Aids. On Thursday, we met with a genetic historian who wrote a pedigree of our families, primarily tracking developmental delays of any kind. Then we met with Dr. Ellison who interviewed Daddy and I and examined CurlyGirl looking for any traits she appears to share with other children that have a common phenotype, or appearance.

Dr. Ellison confirmed
1) She does not have the Angelman's genetic disorder
2) She's not autistic
3) He can't point to a specific disorder.
So we are going to be scheduled to see him again in 8months to a year from now when more signs of a specific disorder may appear. He's also recommended that KT be seen by the Developmental Delay Clinic at Mayo where they can be involved in evaluating her skill levels and in recommending appropriate therapies and strategies. It takes about 8 months to get in to the Clinic, so we're hoping that our return visit can be scheduled during summer vacation.

Then we met with Dr. Patterson who confirmed that almost none of the test results had come in yet. They will send us a report through the mail in 3 weeks or so. They did reserve DNA for future testing should Dr. Ellison or Dr. Patterson want to test for a specific disorder after reviewing the results. But unless a chromosome is missing a relatively large piece or a big piece of DNA has been copied on the wrong chromosome, they are unlikely to find a cause with more "clues" as in more examples of KT's missed milestones or when there is milestone she can't meet.

We managed to have a little fun along the way and learned why you should drive around LaCross, Wisconsin during Octoberfest. I'll blog a little about our adventures later - Mommy K

1 comment:

Emilie said...

Can I ask if they ran the UBE3A mutation test for Angelman Syndrome? It's still a "research" test done through U of Chicago and Baylor U and I thought they only did that after the more common genetic testing came back normal/ no deletion.

I only ask because I had several genetecists say they were certain that my daughter did not have Angelman Syndrome, and they didn't want to order the rest of the testing to complete ruling it out.

She presents atypically, and it turns out she does have AS, and it took years to get the actual diagnosis.

Good luck.