rettsyndrome.org

Image Map

Monday, March 29, 2010

Balance



So I thought I'd better balance things out after my last post and today has been a good day. Even though Avery stayed home from school today (bad cough) and even though the weather has taken an incredibly bad turn, its been a good day. I often wonder how it is that one day I can have zero patience and the next Im so not bothered by a thing! Today has been one of those days!

This morning Avery was downstairs "playing" a toy drum. That was cool. I got a picture of it but cant find the cord to upload it.
A trip to the grocery store with both kids was a huge success. I've been doing this a lot more lately now that Avery isnt in day care and it can be hit or miss. Avery loves to ride in the basket so that means I cant really get that much at a time-either it wont fit or she starts throwing, smashing or opening items. Today I got a good amount and not a thing was messed with.
we got out the markers and crayons today and Avery actually made a few marks on paper! That photo I have (taken with my phone)! shortly after it was taken the crayon went right in her mouth so bye bye crayons.
Maybe it was the planting I did yesterday that has me in such a good place today? I planted zucchini, pumpkins, cucumbers, watermelon, bell peppers and a new basil plant. Already put my tomatoes in last week. The watermelon and cukes are from seed so Im hoping they work out! Pictures to come soon. I cant wait till tomato time. I also planted some new containers and added to some I already had. The yard is really looking nice and we are so lucky to have our backyard! Best thing we have done to this house by far. Im going to try to get some photos of it last year to compare with this year, I know things have grown but when you look at it every day its hard to tell. Oh, this reminds me of a video I need to post. On Saturday the kids were in their room and I was washing my hands in the bathroom. Out of the corner of my eye I see something. Its a bird! In. My. House. Flew straight in the kids room. Hilarious. Wait till you see the footage.

Friday, March 26, 2010

The jig is up!

Im a faker, a big fat faker of the worst kind. Im not as strong as I have been pretending to be. Some of you knew that already though, right? If not then let me tell you-Yep, its true. Im not that brave and not that strong. Im actually really freaked out. Im scared and Im sad and Im angry.
You know how when you become a parent you have this weird ability to maintain a brave face when your child is hurt or scared or sick? It is a strange phenomenon how that just kicks in once you become a parent and I have managed it many times. Last night was not one of those times.
Avery wakes up several times a night with a little whimper and typically all it takes to get her settled is her paci and an adjustment/re-tuck in. So last night at about 11 ish, while I was catching up on my real housewives and greys anatomy, I hear Avery making some noise. not her usual whimper. I go in and try to get her settled and it escalates. She is asking for her DeeDee (blanket) which she has in her hand so Im thinking maybe she is asleep still. So we lay there and she is really crying now and making this high pitched sound that I rarely hear. I ask her if she wants her sippy cup and she says "yeah". So I run and get her cup and bring it back and she doesnt want it. So then I realize-something hurts. And she cant tell me. and she is scared. And I cant help her. And Im her mom. Im supposed to help. Now Im crying. I try not to let Avery see me cry but I tell her "Im so sorry mommy cant help you sweetie, I know you are trying so hard to tell me something but I just dont know what it is." We move to the rocker and I hold her and she calms down then starts up again. Finally she says "GUHGUH!" We have long thought this might be "hungry" so I said "are you hungry" and she said "YEAH!" So I pick her up and say "lets go get a banana" and just like that-dimples. And while Im happy that is all it is-Im so frustrated b/c thats all it is and I didnt know.
After the banana and some cuddling on the couch, it starts again. This is when I start to get nervous that maybe it's Rett syndrome rearing its head. Maybe this means she is going to regress more. Maybe she wont continue to make progress like she has been. maybe maybe maybe.
But I calmed her down and got her in bed and she fell fast asleep.
So while I TRY my best to be positive and hopeful, in reality Rett syndrome scares me to death. Im scared all the time of what its doing and what its done to my baby. I have done a pretty good job of pushing this fear to the far reaches of my mind and its making its way out. I guess it is just natural. and I know Im doing the best that I can. And thats all I can do.

Thursday, March 25, 2010

got the giggles




these were taken the other night just before bedtime. both thought it was too funny that I wanted them to sit in the chair and get their pics taken. man, they are cute. why arent they like this for more than 30 minutes???

breakfast at the club and a cart ride!



We like to meet Poppa at the club for breakfast every so often and this past weekend was our most recent time! Daddy was playing golf with Poppa after breakfast so we got to ride in the parking lot in Poppa's golf cart! FUN times.

Sunday, March 21, 2010

you gonna eat that?



So we have this awesome sandbox and swingset and the weather has been so fabulous so we are getting to use it. The only problem is Avery EATS THE SAND! And crunches it in her mouth-she chews it! Ewww. The more I tell her not to the more she eats. Then of course Nolan has to get in on the action. Oh well. Dont worry-we keep it covered at night so critters dont use it as a potty. Double Ewww.

Saturday, March 13, 2010

NHS-Natural History Study

I started this post on Saturday but finished today...

I'm almost too tired to write, but here goes. We had our first study appt today. It was awesome. Basically its all these awesome Rett experts who are collecting data on girls all over the country to expand the phenotype-genotype and set the stage for clinical trials. We knew right away that if we could be a part of anything to help anyone with Rett we would do it. It doesn't hurt that it takes place in Oakland, just a short (15-20 minute) drive from home!

We had the first appt slot of the day at 8am which was nice. We were assigned to Dr. Skinner, who is a geneticist from the Greenwood Genetics Center in SC-same place our blood tests were done. He and a genetic counselor named Lauren met with us in a room and asked a bunch of questions-questions we have answered a million times before but necessary for her file. Then Dr. Skinner went through the checklist for Rett syndrome-the clinical diagnosis checklist. Avery doesn't quite meet the clinical criteria-so he said she would have what is called variant Rett.

The coolest part of the visit (besides them being impressed with what she can do like say "i wanna go" and then proceed to open the door and RUN out!) was when they showed us a "picture" of the MECP2 gene. We were able to see exactly where Avery's deletion occurs on the gene. There are 4 sections called exons of the gene and her deletion is on exon 4 near the end. This may be why she is mildly affected, typically the mutations that are closer to the front of exon 4 tend to be more severe/more classic. Then there is always the x-inactivation factor.

We had to ask (even though we knew what the answer would be) "whats going to happen moving forward?". Dr. Skinner was careful in what he said but basically told us that he would be surprised to see her regress more at this point (although you never know). that's fine with us.

After the visit we took Avery home to a sitter and took Gramma back with us for lunch. During lunch all of the Super Dr's sat on a panel and were available for questions. We learned a bit about the clinical trial that should be starting in Boston soon (using insulin growth factor) and is aimed at breathing problems and longevity. Avery would not be a candidate because 1. you have to be very available in Boston and 2. she doesnt have breathing problems. But its all very interesting anyway. There is also something happening around trying to bridge the gap for girls with "Stop mutations" but Avery wouldn't fall in that category either. But still, very EXCITING. It makes me so happy to know that right now, some REALLY SMART PEOPLE are working on finding a cure for this crappy syndrome. How cool is that?

I got to see some families I have met a time or two before. We also met a new family that lives fairly close by and has a daughter pretty similar to Avery. I also saw an old client of mine who has Rett and her mom. It made me cry. It was great. We also spoke to Dr. Mary Jones about possibly starting a stimulant for Avery-there are a handful of girls that are mobile and very active like Avery and it could be helpful for focus for them. We will see!

I went back the next day to talk up the Strollathon and to meet more families. Red brought Avery by as well a little later (after they went to a birthday party). We met several other families and it was great to talk to them about their experiences. I also met an awesome mom who does advocacy for girls with Rett and we are going to have her help us with Avery's upcoming IEP! Im excited about what we can get done.
Like I said in my facebook status yesterday-I hate Rett syndrome but I love my growing Rett family.

Wednesday, March 10, 2010

"FEE"

Just an update on Avery really quick. She has started saying FEE, in addition to FAH when referring to her fan. Not sure where Fee came from but I sure love it!! yet ANOTHER new sound! Go Aves Go!

Tuesday, March 9, 2010

Nolan boogies down!

video
Just to be fair, Nolan needs a little screen time too! this was too cute not to share. I searched on youtube for a kids music video to get Nolan to dance and what I found, he loved-it truly freaked me out though! If you want to see it, go here http://www.youtube.com/watch?v=ZP8epOT2A64
Im warning you though, it may give you nightmares!

Monday, March 8, 2010

Yep we ditched the kids to watch the Oscars!

(pay no attention to the lawn furniture all over-its part of our anti-raccoon plan-yes they are back!)
We always go to gramma's for the Oscars and this year we decided to have our sitter come watch the kiddos so we could go and relax and really watch the show! It was great. Gramma made a delicious dinner, we got to hang with Red's siblings and significant others and of course Barb!
But the point of this post is to let everyone know how awesome our sitter, Miss Alexis is! She took this pic of the kids and uploaded to facebook last night-so cute! They LOVE Miss Alexis!!

Tuesday, March 2, 2010

The "Kuh" sound!


Avery used to make a c/k sound for some word approximations she had before-like clock and clown-which were the same but she stopped using words with that sound in the beginning. She says Okay, or just K all the time. but lately-when pointing out my car-which she has always called Guh (which is what she also calls Gramma)-she has been saying Kuh instead! you can tell that she is testing it out too. On the drive home from the gym I kept looking in my rearview mirror to see what she was trying to say b/c I just kept hearing kuh, kuh, kuh. she was SO proud of herself.
Slowly but surely, she is adding words to her vocabulary! It is super exciting!

Monday, March 1, 2010

First School Photo!

This is Avery's school photo from her special ed class at Shadelands Preschool! I do wish you could see her amazing dimples a bit more, but we are VERY happy with the way it turned out!

just a few pics