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Sunday, December 27, 2009

Christmas!

I keep telling people Christmas just isnt the same when YOU are Santa! But it was fun and we made it through. We hosted Christmas Eve at our house again with 13 people! (Our house is about 1000 sq feet!) I had everyone bring something so I was just responsible for the main dish (Stuffed pork tenderloin-YUM!) and an appetizer. Avery was pretty good with all the people and excitement. She didnt want to go to bed so we let her come back out for dinner and she sat with us and had some tastes of our food. She couldnt have a lot of it though due to her allergies. In the morning she was excited to see the gifts under the tree and waited for Nolan to wake up so they could do the presents. Nolan was super excited. Neither of them cared much for the unwrapping though. Either way, they liked it all. After presents we went to the in laws for breakfast and more gifts. We took a long walk and then had to rush home to shower, get the kids napped and make an appetizer for dinner at Red's aunt and uncles. Luckily the kids did nap! And we made it to the dinner only 45 minutes late! Avery did great with her 2nd cousins (who she doesnt see that often). she mostly kept to herself but she was happy wandering around and finding books and magazines to flip through. There was also a toy stroller that she pushed around for a while. So it went well! phew!
This week will be interesting-Avery is off allllllll week! Tuesday we have our first meeting with her Regional Center Case Manager (which is what I used to do for a living!) And Im going to have her sitter/preschool teacher here to help out with the kids. Plus we have a few other things planned. We will make it through Im sure!
Here are some pics!







Wednesday, December 23, 2009

New Hubs

I've written 2 new hubs on hubpages about our experience since we have gotten Avery's Rett diagnosis. check them out here!
http://hubpages.com/hub/Rett-Syndrome
http://hubpages.com/hub/Rett-syndrome-part2
Enjoy!
PS: Lots of repeat info from the blog!

Sunday, December 13, 2009

Time is flying!

Its been a WEEK since I have posted here-I have to try to be better b/c now I am trying to remember all the important things that have happened!
Here are a few:
Avery's eeg came back ABNORMAL here is what I got from my ped: "Epileptiform features:focal spikes bitemporal and left central. Clinical episodes were not seen. 

Impression: This EEG tracing, recorded in wake and drowsy was abnormal due to focal spike discharges. This tracing is suggestive of possible increased seizure predilection.
Recommendations: clinical correlation"
If anyone has any iea what that means besides "she might have seizures at some point, let me know!" We have requested an EKG as well to make sure her ticker isnt doing weird things too but we dont have an actual appointment and when I dont have deadlines I tend to slack off.

Kaiser is giving me trouble with the Rett clinic referral. The new neuro wont refer till he sees her in person (which I kind of get but she HAS RETT SYNDROME so shouldnt that be enough?) The ped wont refer either b/c Kaiser treats patients with Rett and therefore it isnt needed. Well, I have a road ahead of me with this one. What's one more stressor!?

I met Paige Nues in person because she happens to live like 10 miles away from us. Paige is the Director of
Family Support for the IRSF and the founder of Katies Clinc for Rett syndrome at Children's Hospital Oakland! We are so lucky to have Paige and her family so close by. We actually feel surrounded by amazing Rett families both in the real world and in the virtual one. I am so thankful for the internet and facebook b/c it has connected me with amazing parents who are helping us even when they dont know it! Paige and I had coffee and chatted and we are planning to get both of our families together for one big playdate after the holidays.

Wednesday night we met good friends in the city for dinner and Son Volt at the Fillmore. Good times. If you dont know Son Volt, google and listen to any song-you will enjoy it!

Friday I went to see Wicked in SF with two awesome ladies. We had a great time-even in the rain and trying to maneuver the city via iphone map. that was my 2nd time seeing Wicked and highly recommend it!

Last night was the husbands holiday party with his company. We had a great time hanging with some great people.

Today we took the kids to the club for breakfast with their Poppa and then to a party in Tiburon where we got to see an amazing Santa. This is the 4th year we have gone to this party (friend of Mother in laws) and its a great one. This Santa is seriously the real thing! Here are some pics of him with the kids!





Today for some reason I started to think about how many words Avery has b/c usually I just say 10-15 but I counted and its over 20! Some of course are approximations like "BUH" for BUS or "BAHPAH" for backpack but I count those too. She continually amazes us with the things she attempts. She gets up on the couch a lot now and is really getting after stairs. :) But it not all fun and games, She still really thinks its great to slap, scratch or knock over her brother. Which results in lots of crying. which is alway nice. right.

oh, we have FINALLY gotten a tree! Now if we could get it inside and decorated!!

Friday, December 4, 2009

Great way to Donate!

Jeff and Sarah Canavan, whose daughter Kate was diagnosed with Rett Syndrome in March of this year, have started the Kate Foundation for Rett Syndrome Research. They have commissioned talented glass artist Michael Trimpol from the Little River Hotglass Studio in Stowe, Vermont, to create an exclusive collection of four glass ornament designs for Rett Syndrome research fundraising.
The ornaments are a breathtaking vortex of colors and make unique gifts for friends and family. Each ornament costs $35.00. All proceeds from sales of the ornaments will go to the Rett Syndrome Research Trust.

Go to www.katefoundation.org to see the beautiful ornaments and to purchase or make a donation!

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!

Monday, October 19, 2009

Pics from trip



We made it 5 years!

Red and I celebrated 5 years of marriage on the 16th. I can't believe it! We got to take the weekend off and leave parenting duties to my sister in law and her hubby! They stayed at the house and took care of the kiddos all weekend! I know it was exhausting for them and we are so appreciative!! We went to Napa (Yountville) for the weekend. We stayed at the lovely Napa Valley Lodge which is walking distance from the world famous restaurant The French Laundry. We drove by it. You can;t get in to that place without like 6 month advance reservations and the price is astronomical. Its a prix fixe menu at $240 a pop. I would LOVE to do it but not this trip. We got up there about 5 ish and went and bought some wine and cheese and crackers and took our backgammon game out to the pool. I won, 3-2!! that NEVER happens. We went across the street for dinner to the Napa Valley Grille just to be easy and not have to drive. Food was good (had a great salad and some sea bass over polenta-Red had a burger) but the service SUCKED. Our waitress couldn't be bothered and we ended up having to ask two different people to bring us things. annoying. There was no one at the bar when we finished but we decided to go anyway and had the best time. George the bartender had magic tricks for us and bar tricks, including getting an egg from one shot glass to another without touching the glasses or the egg!
the next day, slept in, got the continental breakfast, got ready and went wine tasting. We overheard at breakfast someone mention Del Dotto winery. We decided to try it and made a reservation for a tour. It was pricey but worth it. Before we went, we stopped next door at Whitehall Lane-it was fine, Heather (who poured for us at Whitehall) warned us about going next door-she said be ready for the opera!. So we go over to Del Dotto and walk in to a huge room with marble everywhere and opera music blaring. I felt like I was going to get on a ride at Disney. "Check in at the bar to your left" We checked in, were given a glass of Cave Merlot (which was delish) and waited for the rest of our group. I actually got tears in my eyes when we walked into the cave. It was beautiful and candlelit! We tasted from barrels and learned a lot about how much the barrel influences the wine. It was fun. After the tour they give you cheese and meats and fresh pizza! yum. We had a blast.
After that we headed up t St Helena to eat lunch and ended up at The Market (best meal of the weekend). We both started with a cup of amazing potato leek soup. I had the avocado and heirloom tomato sandwich with cucumbers, red onion and lettuce on sourdough. yum. We then checked out some of the shops and headed back to the NVL. Got some more wine and went to the hot tub to relax. Ended up chatting with some ladies who were there for their 40th b-days. Decided to get sushi for dinner. In the room we called a place we had seen on the way to St Helena called Go Fish. They were closed for a private party. bummer. The only other sushi nearby was at CC Blue so we called them. They said sure come on in! (It was already about 8:30). So we get ready and go. Im psyched for sushi! **What follows is from my review of the place on Yelp** We get there and there are about three tables occupied inside. there were 2 tables outside, one of which had yet to be cleared. We walked in and asked if we could sit outside-the waiter said sure-let me clear that table off for you. Approximately 10 minutes (yes 10 minutes of us awkwardly standing around the patio, reading and re-reading the menu) later he comes out to clear it. It takes him 2 trips to clear a 2 top. He mumbles something. We sit down. Another 5-7 minutes pass before he comes back to wipe our table down (but he forgot the rag!) and is gone before I can order a beer. umm, we still dont even have menus! He returns, takes our drink order -(I ordered a small asahi, my husband a large Sapporo -which they were out of so my husband goes with a large Asahi-wiater says "so 2 large Asahi's?" sure buddy, ok.) We also order some edamame. By this time we are joking with the couple next to us about how slow it is and they still dont have the whole menu or any water. After we have a chance to really get our order figured out, shaky and nervous waiter comes by and says to us in an almost inaudible whisper-"I was just informed we are out of sushi rice"....wait WHAT? how are you out of sushi rice? this is a sushi place! I say: "wow, that is really bad news." He says drinks are on us-so sorry. We drink our beers, eat our edamame and leave. The nice local couple who were dining there for the 1st and last time, told us to check out Cindy's Backstreet Kitchen and we did and it was great. It wasn't sushi but is owned by a famous chef (Cindy Pawlcyn who actually appeared on Top Chef Masters). Our server informed us that CC Blue is gross anyway and turns into a nightclub later! Ewwww.
In the morning we got up and went to breakfast at a greasy spoon in Napa and headed back to the kids.
It was GREAT to get away-we laughed a lot and drank a lot and now I start my diet!
Low calories and no alcohol for at least a month! (This was planned prior to the trip!)!

Monday, October 12, 2009

more pics



Avery update

So Avery has been in her special ed program for about 6 weeks now-thought it was time for a little update. Each month they have a new theme for the class. September was transportation and October is all about Halloween. Because of the transportation theme, she started saying BUS (also because she is in love with riding the bus!) and CAR. she says both spontaneously. After one week of the Halloween theme she already has some new words. We went to Safeway the other day and they had pumpkins outside and she said pumpkin! It sounded more like PUH-BUH-but I knew what she meant! Then a few days later as we were waiting for the bus she saw the halloween decorations in the neighbors yard and said Goh (GHOST)!! She is talking a lot more-talks about her backpack all the time. She loves taking it to school. She has also used the potty at school three times.

She is running so much better now. Also getting so good at stairs. If she is carrying something she can go right up without holding on to anything! She has gotten so much more confident going down the stairs as well. Recently she has been willing to go down the slide too! We get her up there and she will get over to the slide, and wait a few then pushes herself down, lands on her feet too! She is much better with using her utensils although she still prefers to use her hands to eat. But if you sit there and remind her, she can do it. she really tried to help take her shirt off for bath time tonight which is great.

I had the kids try on their Halloween costumes the other day (Avery will be a ladybug and Nolan will be a Bee) and they thought it was too funny. They were both looking at themselves in the mirror and laughing. So today I asked her "Avery what are you going to be for Halloween" and she said BUGGY!

She is using PECS at school and we have a bunch at home to use-we try to do it as much as possible but its hard to remember. I need to make a better effort b/c I really think its going to work for her.

We had a HANDLE meeting on Friday the 9th and her practitioner Sindy thinks we are doing well. She added a few exercises for us to add to the program. We are continuing to do as much as we can with her daily. I have seen a huge difference in Avery's mood since we started. We have had a few meltdowns recently but I'm pretty sure its more due to food reactions and/or hunger than anything else. I have been slacking off on her food restrictions (yesterday she had a couple little mini tootsie pops-oops!) She eats lunch so early at school now and I think she is overdue for a snack by the time I pick her up. So we are working on that.

Oh, Avery has gotten a little bit better with her baby brother Nolan too. She still thinks its hilarious to knock him down-especially now that he is walking around more. He is tough though. :)

Wednesday, October 7, 2009

Friday, October 2, 2009

Nolan is ONE! and WALKING

We arent used to this around here but Nolan started walking on Monday-5 days before his first b-day! when Avery turned one she still had yet to start her butt scooting boogie (she did about a week after her birthday) so its a new thing for us to have a one year old walker! Here is some video of him on day 2 of being a walker (09.29.09)
Today is his actual b-day and we arent celebrating tonight-doing family dinner on Sunday so there will be pics of that later! video