Merry Christmas!

Unfortunately, this Christmas broke with tradition. Instead of heading down to Ft. Lauderdale to enjoy fun in the sun, Bryan got the flu and I had to pick up Ellie from school for being sick. So both have been miserable since Friday. I guess I have as well, taking care of sick people is not my thing, that's why I'm not a nurse. We were going to leave Saturday, then maybe Sunday or Monday... but no. So there are no presents and few decorations since the cancellation was so last minute. Luckily Ellie has no idea what Christmas is so she's not complaining.

Sentences and September

Last week she started speaking in 2-3 word sentences and expanding her vocabulary. Her teacher also noticed it and today at the speech therapist we were told how great her speech is coming along. So far she has said, mama sit; no, ellie eat; sid, where are you (Sid is our foster pup)? She's also managed to say off/on when she wants the lights or tv off or on. She's also currently obsessed with "Wheels on the Bus." I'm starting to really hate that song.

Goodbye GI!

Our GI doctor was probably one of the few doctors I felt like actually heard and understood me, and I really understood him. We were always in sync. That said, the looming threat of feeding tubes and having another specialist in my daughter's life just isn't cool. Today, however, we got to say goodbye. With the new diagnosis of CdLS, Ellie gets a different growth chart and on this growth chart, she's in the 95th percentile. He also said that unless she stops growing, or gets sick, we don't need to see him anymore. We can also stop feeding her the periactin because it's not serving a purpose other than making her tired. I guess this is the one upside of a new diagnosis.

DS Blog

My friend Morgan keeps a blog about her twin girls, one with Downs and one without. I recommend it. http://morganls.wordpress.com/2013/09/15/the-best-part-of-waking-up/

Cornelia de Lange Syndrome

I have finally come to terms with Ellie having a clinical diagnosis of CdLS. I know, I know, took me long enough. I just... hate to think of my child having even more problems. And this one is permanent. At least with PRS she could have outgrown it. At least she has a very mild case and is likely to lead a mostly normal life. I joined the CdLS National Foundation. I received a phone call from a lovely and friendly lady who answered all my questions and asked some about Ellie. She's sending us literature. We've already met some CdLS families here in GA. I told her teacher and asked if it makes any difference at school and it really doesn't. I found it interesting that CdLS can cause a cleft palate.

3 year check up, genetics

The three year check up was actually a delight. Everyone in the office was just stunned at what a big girl Ellie has become and were excited to see her. The pedi thought he heard a murmur but since her newborn cardio scan was clean and no one else has ever heard it in her billion appointments, he chalked it up to her being upset. No shots, which was nice. He even hugged me and said he always knew Ellie would turn out great because she had great parents. That really made me happy. He also thanked me for doing such a great job with her. Always stuns me to hear it. I just... do what I do. Nothing special. At least from where I sit. Outsiders, I guess, see it differently. The genetics appointment was a large disappointment. The new geneticist was nice enough, and our usual genetics nurse was pleasant. The geneticist came in and gave her a once over and then left. Our usual contact reviewed the fact that while Ellie shows "soft markers" of Cornelia De Lange Syndrome (short pinky finger, uni-brow, long eyelashes, body hair) there is no scientific proof that she has it (the genetic testing all came back clean). The contact offered more testing, but the chances of finding anything were less than 5% in one test, and 37-47% on the other. Further, she explained, it would only be useful if we were pregnant or having another child. I declined (and husband agreed). Essentially, she said, it comes down to keep doing what I'm doing with Ellie and we can call if we have further concerns and need her to write an order (for neuropsych, for example).

School

Ellie seems to really like her school. Today is day 5 and we've already seen a great jump in her speech and willingness to follow directions. Her teachers are fantastic. She isn't eating much, if at all, but not without urging from the teachers. She eats in the room with her 4 other classmates so it's not like she's greatly distracted. If I go in it will only set her back with separation and eating independently. I pack her lunchbox to the brim with all kinds of food- pureed fruits and veggies, raisins, sandwiches, cheetos, graham crackers, cookies... she flat out refuses. Tomorrow is the pediatrician for her 3 year check up so that should be a mess.