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Friday, November 27, 2009

Today is a good day

I have been by myself with the kids today b/c Red went to play golf (in Santa Cruz! what?) anyway, days like this stress me out but the kids have been wonderful. We all went to Safeway to pick up a few things and they were both awesome. Avery just keeps surprising me today. She took half of her jacket off before nap and also put a hat on her head correctly! Both things almost made me cry. plus she has been a complete doll since waking up from her nap. Oh, and she napped in her big girl bed! Didnt get out once. love her.
Oh, and I keep forgetting-she can totally get in the tub by herself! She is one amazing girl!

Here is a totally unrelated photo-my 2nd ever turkey. It was good

Wednesday, November 25, 2009

happy girl!


this was taken yesterday!

eeg




We did Avery's EEG today and Im so glad its done. She didnt have to sleep so that was good b/c we could have been there all day! She protested getting the cap and wires stuck to her head and REALLY protested when it all came off, but in between we just watched DVD's, looked at books and flipped magazine pages. She got a tiny bit antsy but so did I! It took about 20-30 minutes to get her set up then 30 minutes for the test. They flashed a strobe light in front of her at one point and she wasnt really fazed by it but did take a couple swings at it!

One thing that really irks me is WHY don't they put on her chart "non-verbal" or has Rett syndrome and this is what that might look like! She kept asking Avery questions and she probably thought I was just an annoying mom answering for her. But she isnt a typical 3 year old and isnt going to choose a DVD! (we brought our own thank goodness) then she was trying to be nice and let Avery scoop the paste out of the tub with this tiny probe and Im thinking that she should know that this is not a skill Avery has! But the tech was nice. so glad Gramma came to help me hold her down! (Avery, not the tech!)

Here are a couple pics taken by Daddy who doesnt give you any warning prior to snapping away!

Oh, and they videotaped it. weird right? and guess who reads all the EEG's? yep, Dr. Victim. GREAT.

Wednesday, November 18, 2009

C917_939 del 23


I've always hated odd numbers! Always!
I spoke to the genetic counselor today-she is awesome. The (odd) numbers above represent Avery's MCEP2 mutation. She is one of a kind (but we already knew that)-this particular mutation hasn't yet been reported. Basically she is missing 23 base pairs or nucleotides on one arm of MCEP2. The ones between 917 and 939. weird huh? We were told that some of her X's that have the mutation were turned off during gestation and some were turned on. So she has some "good" X's at work in there! The good part about not having anyone to compare her to is that the sky remains the limit! The bad part is not having anyone to compare her to! But, even if there were another girl with this same deletion-they wouldn't necessarily be alike. Depends on how many "good" x's there are.

She is in the 43% of girls with Rett that don't have either a deletion in one of 8 common deletions (50%) or a deletion in a "hot spot" (7%).

Still waiting on the new neuro, but heard from the pediatrician today (who we love) and she said she would call the one we will likely be assigned to. She says he is great. We have every confidence that he will be!

I will be getting the lab slip for my genetic test next week and will likely go in after thanksgiving. Then we will find out if I have the Rett mutation on my inactive X. Highly unlikely but I am not ruling anything out at this point. Then we decide if there will be a baby #3!

Gotta go make dinner. Chicken fajitas. Wish I could have a beer! Tomorrow is the last day of my month off alcohol! 8-9 pounds lost!! :)

Tuesday, November 17, 2009

Update

We are on our way to a new ped neuro! Im actually surprised at how well Kaiser has handled the situation. I called yesterday to file a formal grievance and I have already gotten two follow up calls. Today, I heard that the complaint would be handed to the CHIEF today. Good. And they are all over getting us a new neuro. I have every reason to believe the new one will be great-cant get much worse!

Her EEG is scheduled for Wednesday the 25th. I hope it goes well-anyone have any experiences to share? We didnt really get any instructions from anyone.

The genetic counselor called me today. She has been so nice and is one of those people that is doing the job they were meant for. You can tell she cares-even over the phone. She called me as I was getting the kids out of the car so I have to call her back tomorrow-but she said she could go over the exact results of the test with me. Im anxious to learn as much as I can.

We continue to be overwhelmed by all the support and love from friends, family and even people we have yet to meet! thank you!!!

Monday, November 16, 2009

"thanks"

That was the reply I got last night from the neurologist. thanks. that's all it said! I think that confirms I made the right choice! She didnt even try to backpedal or apologize! (not that it would have made a difference but still!)

Now I need to figure out how to get her care to the other ped neuro. Hope its easy!

Saturday, November 14, 2009

Girl Power 2 Cure

We have joined up with a fabulous organization called Girl Power 2 Cure! check it out and check out Avery's page there at girlpower2cure.org/averyanne

Friday, November 13, 2009

Rett syndrome


Well, a lot has happened since my last post. On Monday the 9th, a regular old Monday, after school playing outside with the kids, I received a phone call from Avery's neuro saying she wanted to meet with us the next day to discuss Avery's test results. I immediately new the results were positive. She confirmed that yes the test came back positive for Rett syndrome. www.rettsyndrome.org

It was surreal. I felt like I was in a movie. I was standing in my kitchen by then with my 2 cuties at my feet laughing and having fun and there I was sobbing. I dont remember much of the conversation but I do remember thinking:I feel so relieved but I also feel so shocked and sad. It was the strangest feeling ever. I felt like I should be crying but also sort of felt like I didnt need to. I called Red and told him-luckily he was about 10 minutes from home. His mom arrived shortly after he did /c we had already asked her for dinner. She got the news as soon as she walked in the door. We all cried a little here and there. Instead of making the chicken piccata I had planned we ordered a pizza. I wasnt in the mood to cook. Red made plans to be with me for the meeting with the neuro the next day and his mom said she would come with us as well. i slept better than I thought I would but each time I woke up all I could think was "Avery has Rett syndrome". so strange.

The next day Avery went to school as planned and we went to the neurologists office. I've never much cared for her and I chalked it up to her always giving me bad news but this meeting (coupled with some previous emails) confirmed it, she sucks at life. I said "this is my mother in law Kasie", she said "i figured" and laughed-how bout "hello Kasie Im so and so nice to meet you." ??? As soon as we walk in to the office she says "I see you left the victim at home" followed by nervous laughter by all of us. We were all too dumbfounded to speak. She proceeds to explain, answer questions etc. We had previously spoken about trying melatonin to help Avery sleep and she asked me about it. I told her I hadnt gotten it the mail yet and she asked me "why, you can get it everywhere, probably even the 7-11!" I said "well I wanted the liquid kind and they dont sell that everywhere". "well WHY did you want the liquid kind when you can just get the tablets and crush them?" ummm who the hell cares? do you have to be right? Jeesh. So then i ask her, "are there any Rett syndrome specialists in the area" She says "not that I know of". Well I found out that day that there is a Rett syndrome clinic at Childrens hospital in Oakland-she works at Kaiser in Oakland-claims to have all this Rett experience-but didnt know about that? yeah right. Kaiser just doesnt want to pay for it!

So I email her yesterday to ask her why she didnt tell me that and if it was because Kaiser wouldnt pay for it. I also asked her to send me as much info as possible about the test and Avery's specific mutation b/c it is tough wondering if she will lose all her skills one day.

She responds saying that Kaiser wont pay for it but I should see if they have financial aid available. (thats not what I asked!) She also told me that I was focused on the negative and should get counseling to grieve the loss of a normal child. !!!!!
Here is what I replied:

I've let myself take all day before replying to you because your email-in addition to other emails and comments you have made-was insulting. I think you are speaking out of turn when you say I am focusing on the negative. You have no idea how I am dealing with this-we have come a long way since Tuesday morning and I am actually being surprisingly positive about it all. Yes we are grieving and yes we have questions but that by no means indicates negativity. You also made some comments via email that seemed very inappropriate about "will I manage to survive waiting" etc. it seemed very callous, condescending and unsympathetic.

On Tuesday you quipped "oh you left the victim at home?" that was seriously out of line. I was, as well as my husband and mother in law, in shock that you made that comment and we were all too dumbfounded to say anything.

We would prefer not to have a Dr that refers to their patient as a victim and I will be moving Avery's care to someone else.


thats all I had room for or it would have been much worse. Like I said she sucks at life.

Anyway! I have been extremely impressed by my abilities to look at the bright side through all of this and while I know we have a long road ahead, we have to just move forward and make this work. I have found so much support through the moms on the delayed darlings board on babycenter, our friends and family. I have also already made contact with a couple families who live within 10 miles of us who have daughters with Rett. We are excited to get going on this journey with our special little Avery and are going to be so thrilled to see the dream of a cure be realized. This was meant to happen to us, i just dont know exactly why yet.

I saw this on a babycenter mom's blog and had to steal it (thanks Stacy)

LISTEN TO THE MUSTN'TS
Listen to the MUSTN'TS, child,
Listen to the DON'TS
Listen to the SHOULDN'TS
The IMPOSSIBLES, the WON'TS
Listen to the NEVER HAVES
Then listen close to me --
Anything can happen, child
ANYTHING can be.
~Shel Silverstein

Tuesday, November 3, 2009

Family Halloween Photo


We went to our good friends the Coburns for a Halloween party with the kids and 6 other couples and their kids! There were 9 kids I think! The hubby's took the kids trick or treating and the ladies stayed back to fix dinner and relax. Here is the only shot we got of the four of us. The kids weren't in the picture mood! I was 80's prom and Red was Ernie McCracken from the movie Kingpin!

School Halloween Parade 10.30.09


here she is with her entire class! Only 4 kids (there are 2 more in the afternoons but they only overlap for about an hour!)

Here is Avery walking out to the parade with one of her teachers!

big boy!


I see so much of my brother and my nephew in this picture!

Another pumpkin patch and a pony ride (or two!)




Avery's friend Siena invited her to go to the pumpkin patch near her house on the 25th. There was a hay tunnel and pony rides. Avery was super excited about the ponies. I wasnt sure how she would react but went ahead and got the $6 dollars worth of tickets for one ride! Luckily, she LOVED it. And we had to go again. Siena gave us her tickets b/c she wasnt feeling the ponies that day! Thank you Siena. Avery was so good on the pony each time. I walked with her so she wouldnt slide off but she held on pretty well by herself. I was very proud of her!

A Birthday Party


While Red and I went to the Cal game on the 24th, Avery went to a classmates birthday party with her babysitter and teacher Miss Alexis! She had a great time!! Thank you Miss Alexis!

pumpkin patch




we took the kids to Orchard Nursery to check out the animals and try to get a few pictures. We werent all too successful but here are some good ones!