rettsyndrome.org

Image Map

Monday, May 31, 2010

"if you can't get out of it, get into it"


I have procrastinated long enough. Im worried I wont do the information in this post justice but here goes.

Most of you know Ryan and I attended our first Rett syndrome conference this past weekend. It was in Colorado Springs this year. Oddly enough last year's conference was held in Leesburg VA where one of my best friends lives and is also the state I grew up in and still have family in. Of course we missed that one because we didnt "have" Rett yet! Anyway! Colorado was great. We have great friends there as well and were treated to a lot (free place to stay, free car and a very generous donation of miles for our tickets!)-plus we finally got to meet their cute kiddos ages 3 and 1. They really know how to take care of their guests. Still trying to figure out what to send them to thank them!!
So we arrived Thursday night in Denver and took the shuttle to our friends place which is about an hour away. It was late and there were 3 other groups in our van. First guy got dropped off no problem. The second group wasnt so lucky. Driver got lost despite having a navigation system! Seems the company got the address wrong. So that made us next. By this time we both had our iphones out to check the map ourselves. The driver makes his way to the neighborhood (which we have been to once but our friends have since moved houses) and just as he passes the court they live on says "here it is". We are sitting in the middle of the street. Literally. He hasnt pulled up to a house at all, just stopped in the middle of the street! I say from the back "Um, no, I think it's back there on that court you just passed". Driver: "you don't know the house???" Me: "Ummm, nope never been here before!" We had been worried by the small amount of cash we had for a tip. Turns out it was just the right amount for this guy!
On Friday we got on the road to the springs. Just about an hour drive and it was pretty looking out at snow capped mountains. After we picked up our registration materials we ran into another couple who we had met at another Rett event who live in Santa Barbara. We had a feeling after that first meeting that we would just click with them and we did! We had lunch with them, shared our diagnosis stories and chatted. Another mom I had met at that same fundraiser came in and joined us.It was great. then we headed to the pool for some beers and some rays. More families arrive-I got to meet a couple from VA who I was introduced to via facebook thru a mutual friend! Small world story there. Then we headed back to our friends place for dinner. It is always so great to catch up with them and have a relaxing dinner. There was a raccoon in a tree on the deck of the restaurant -if you know Red's past with raccoons then you know we were hysterical laughing. Saturday morning we were up early to head back to the springs. We were running late so I had another awesome mom and her hubby save us some seasts! Thank goodness we could just sneak right in the back! Thanks C and J.
the first two sessions were Rett syndrome 101 and Genetics 101. It was a bit early for genetics but helpful. It's going to take me a while to really get the genetics part. I am so interested in this and yet most of it goes over my head. Dr. Skinner, who we saw at Katie's Clinic, presented the genetics piece. He has a good way about him that does make it easier to get. I learned what all the letters mean in many of the mutations and sort of get the difference between missense and nonsense mutations. But Avery has a deletion. But that's another story!
Next was the keynote. Susan Zimmerman is a Rett mom and author. This woman has a gift. A gift for words and for public speaking-two things I wish I had a better handle on. Her daughter is now in her 30's so it was much different when they received their diagnosis. She began writing and realized she had a book. The book is called Keeping Katherine and I need to read it! I inteded to buy it right then and there but didnt get the chance. She relayed a story about an experience she had during and outward bound trip. A young woman from New Orleans was rock climbing, something she had never done before and was stuck at the top just about to reach the end. She froze. they all began yelling to her that she could do it, go this way and go that way. The the outward bound leader shushed them and yelled to her "if you cant get OUT of it, get IN to it!" chills. she also told a story about arriving in NYC the day after the new york city marathon just after 9/11 and seeing a woman finishing the race-a day late. A true winner. she never gave up.
both just reinforced where we are. We cant get out of having rett syndrome in our lives. So we are getting into it. Working on a fundraiser, going to the conference, learning as much as possible. It was an incredible speech.
It's becoming clear to me that this has gone on too long for one post and there is chocolate to be eaten. More to come!

gratitude

Before I start in on the nitty gritty of our weekend at the Rett conference I need to make sure we give thanks where thanks are due. Red and I are extremely thankful for the following:
  • Gramma, for taking the kids for us whenever we need her to and affording us the opportunities to do what we need to do without a single worry. It is pretty special and we are so thankful.
  • Alexis, our fantastic babysitter who gives Gramma a break on these long weekends and helps us out whenever we call.
  • Good friends, namely Pete and Val, for basically making this weekend happen easily and inexpensively. There aren't words to convey how thankful we are for that. You truly went above and beyond the call of duty.
  • IRSF, for being awesome. I have now personally met almost half of the staff there and I am pretty sure there couldn't be any better people for the job. And after hearing Kathryn Kissam and Steve Bajardi speak, I KNOW we are in great hands.
  • Every single doctor, researcher, student, nurse, and therapist who are dedicated to figuring out the end of Rett syndrome and for helping make it better until that day comes.
  • Every single Rett parent, for being strong and blazing this trail we walk on-making it a bit easier for those of us new to the game. We honestly couldn't do it without you.
  • And finally, thank you Avery-for making it possible for us to be thankful for so much. While it is so hard for us to watch you struggle, you have brought such a light into our lives!

Wednesday, May 26, 2010

off to see the wizard


Tomorrow Red and I get on a plane to CO to attend the 26th Annual IRSF Rett Syndrome Conference! Im super excited and anxious and am preparing to be massively overwhelmed. But Im so glad we are going. We get to meet moms and dads that we only know via the Internet and see some, that we have met once or twice, again. I know we will learn a lot and Ill be back on Sunday or Monday to tell you all about it!
We have some amazing friends that live in Denver that have helped us to make this happen. They went above and beyond the call of friendship!
Thank you Pete and Val for everything! We cant wait to see you and meet those little munchkins!

Everyone have a fantastic long holiday weekend!!

Saturday, May 22, 2010

If you haven't read this you MUST.

The Middle Place and Lift, both written by Kelly Corrigan are musts. Especially if you are a mom. And especially if you have dealt with tragedy, a disease, a SYNDROME or a whatever. I read The Middle Place after I was sent a video of Kelly reading a speech that was making its way around youtube (just google her-the video is called transcending) and was emailed to me. I ordered the book immediately after I watched that video. I devoured the book. Its so real and Im really down with being real. You laugh and cry on the same page. Its fantastic.
Even better? I got to meet her last night! Just by chance and at the last minute a fellow Rett mommy got invited to this very intimate reading at a home not far from me. She invited me to be her guest because it was from me that she heard about Kelly. Also because we had been hounding Kelly to be our special guest at the Strollathon in October. Let me back up. In December I went to a charity fundraiser in SF that a good friend was co chairing and Kelly Corrigan was the speaker. As soon as she walked up to the podium I burst into tears. It had only been a month since Avery had been diagnosed and I was a little fragile. By the time she had finished her readings (we were the first to hear from her new book Lift) there was not a dry eye in the house! She had mentioned to find her on facebook and of course I got my iphone out and friended her. I attached a message as well to let her know that her remarks had really touched me in light of Avery's new diagnosis. She accepted and responded to my note saying she was so sorry to hear and if there was anything I ever needed not to hesitate to reach out. So....when the Strollathon fell in my lap, right about the same time, i thought she would be a perfect special guest speaker at our Stroll! I emailed her, and Facebooked her and mini stalked her. She did end up getting back to me and said she would unfortunately be out of town that weekend. Oh well, I was glad that I tried.
So when my fellow Rett mommy told me we could go and meet her and hear her read I thought-I'd love to but he might be a little freaked out! Im kind of a stalker. So we are mingling and I see her coming near and I dont know if its because I saw her on the Today show recently but I get all star struck. Finally when I couldnt pretend that I didnt see her anymore, I introduced myself. We chatted. I told her more about the Stroll and Rett syndrome. She was so cool and normal. I dont know how she does it. In a room full of people who all think she is our best friend and she knows maybe a few.
She read an incredibly funny part of The Middle Place -everyone was dying laughing. It was hysterical. Hearing her read it made it even funnier and we got some extra stories and fun side notes too. Then she read from Lift (we all got a signed copy to take home!) and it was wonderful. She explained the title of the book-it came from a conversation she had with a hang glider and how what he told her was really a metaphor for life. Basically you cant get lift without turbulence. And that not everyone makes it past the turbulence. But when you get to the lift, you are in a certain place where things that never would have happened do and people you never would have met become your friends and all I could think was "if Avery didnt have Rett syndrome I wouldnt be standing in this room". It all resonated so much with me and what my life is like these days. I cannot do her words justice at all. I wish I could-but I guess I dont have to-just go buy her books and read them. You will be so glad you did! Im halfway through Lift already!

Wednesday, May 19, 2010

been thinking

(i had high hopes for this post but it ended up, well, like this...)
i've actually been doing quite a bit of thinking. and most times I find myself shaking my head trying to get the awful thoughts out of my mind. but on to what else I have been thinking about...giving you guys a better idea of what Avery is like day to day. Funny because one of the other blogs I follow just featured a post like this and it kind of lit a fire under me to do it. This is typically a place for me to share in our joys and accomplishments of what Avery CAN do, but I feel it is necessary sometimes to just face reality. I explained to a friend recently that its like torture having a daughter with Rett. My heart is constantly breaking and then just as quickly filling up with hope only to get deflated and cracked all over again. This is not to be read as ungrateful. We are very thankful for all that she can do but if you only know Avery in photos, its hard to understand how different she is. We are really seeing it now in a different light watching Nolan develop right on track. Everyday he does something that either she can't do or never did. Talk about bittersweet.
From the moment Avery wakes up to the moment she falls asleep (and even sometimes a few seconds into falling asleep) Avery is M O V I N G. Her hands mostly, but also her entire body. If you wonder what she does with her hands, think of Nomar Garciaparra in the batters box. He compulsively checks and re-checks his batting gloves in a particular fashion numerous times at each at bat. Avery's repetitive hand movements are similar to this. They have recently gotten worse and a little more pronounced with her hands also going into her mouth every now and again. She is constantly tapping on any hard surface she is near and if she isnt doing that she is opening and closing a closet door or a drawer or the trash can lid.
She drools, a lot. Her constant moving hands make it nearly impossible for her to feed herself anymore and now I sit and feed her-like a baby. It just kills me.
I have pretty much given up on trying to get her to do an activity. This always sends me into a tailspin. Crayons? nope. playdoh? nope. videos? nope. water table? nope. So she MOVES and she will just constantly move from place to place either tapping, doing her hand movements, pushing chairs around or opening and closing doors/drawers etc. It's constant and its so frustrating. I know she cant help it and she is doing the best she can and so am I but I just dont know what to do with her. Park? nope. She bolts. If I had a nanny/helper/sitter that could come with me I could...and I would. Even the grocery store is a danger zone. She wants to ride in the basket. But while in there she hits Nolan, screams, tries to eat the food Im loading in.
She has lost many words and its hard to believe it was just recently I was realizing her vocabulary had gone up over 25 words/word approximations. Now all we hear is BUS, FAN, DIANE and an occasional yeah or no. Havent heard "mommy" in a week or so and "Daddy" has been gone about a month. Doesnt even say deedee anymore (thats her blankie) She mostly yells (but with a smile on her face) and says words that we dont understand. Like Gyung, Bung, things like that. Its absolutely exhausting. And then I feel bad because we have it EASY compared to a lot of girls with Rett. But it's still really hard. The worst is just not knowing what she knows. What she wants. Could you imagine living your life having to wait until someone asks you what you want/need how you feel? and then still not be able to tell them?
After a lot of thought we have decided to try some more medications. Our wonderful Rett Clinic pediatrician who is just an angel of a woman is helping us and we have started Avery on Prozac as of Saturday. It can help with the repetitive actions (like the opening and closing of doors) and it is setting the stage to start Tenex which is an ADHD medication. It is clear to me that Avery has some sort of attention deficit. The Tenex can make things worse before making them better and the Prozac can buffer that a bit. I hate to make Avery a guinea pig of sorts but what if it helps her to relax, to focus, to play? I have to try right? Today we increased the dosage and she seemed very jittery which just makes me constantly question this choice. But I want to see it through.
Im encouraged by other moms who have been in Rett land longer than we have-love to hear their stories of post regression gains. Maybe Avery will be a totally different kid in a year or two. And we can be more typical. Thats all I want for now, typical. Then Ill take a cure please. A cure-that is my next topic....now, to bed.

Saturday, May 15, 2010

If you want more stella and dot....

http://www.stelladot.com/emilystoddard
visit this site!
Thank you Emily for your generosity!
xxoo

Della Triple Strand Necklace (for grown ups!)


Three strands of glass pearls, faceted and smoky glass beads. 21.25” length (shortest strand), toggle closure.Triple the beauty with luxe glass pearls and faceted smoky glass beads.Shortest strand 22.75", longest strand 25" w/ extender. Toggle closure. Value: $98
Bid starts at $15

Gracie Headband and Barrettes


Little Girls Line:
So fancy chiffon flower barrettes with sparkly acrylic stone center come with an elastic ribbon headband. As precious with a frilly dress as it is with a pair of shorts and a tee. Headband 13" length. White flower barrette, approx. 3" diameter. Pink flower barrette, approximately 2.5" diameter.
Value $24
Bid starts at $5

Allie Pearl and Ribbon Bracelet

Little Girls Line:

Cutie pie faux pearl and gingham ribbon bracelet, accented with our silver plated logo heart to tell her she's near and dear to yours. Stretch elastic, 1.5" inner diameter.
Value $14
Bid starts at $5

Auction for Strollathon!



I recently had a stella and dot jewelry trunk show to raise money for a fabulous organization called Girl Power 2 Cure. We raised $370 for their Dress Up 2 Cure campaign and it was a lot of fun (thank you Emily!). Because I was the host I got to choose a ton of jewelry for FREE! I specifically chose a few items that I could auction off here on my blog (thanks to kelly b for that idea!) to raise money for my Strollathon! So here are three items up for auction! Leave your bid in the comments section and the last person to bid on May 20th at 3pm pacific time, WINS!

Friday, May 14, 2010

Hi!

video
outside this morning. Aves stayed home from school since she has been sick...feeling back to normal today!

Wednesday, May 12, 2010

it never fails!

Monday and Tuesday were just bad bad days. Days where I had no patience. I got mad and I cried. I sobbed. My eyes hurt from crying. I was sobbing and apologizing to Avery for not knowing what is wrong and not being able to always help her. I held her and cried. I cried while a fed her from a spoon like she was 4 months old. I cried when Ryan walked in the door and he hugged me and let me cry.
Today I made a decision not to cry. I allowed myself to be patient and we have had a good day. Avery has a way of making it happen if I let her. And to top it off, today she confirmed what I thought I might be hearing yesterday-A new sound "huh" and she has said hot, hi and how (just randomly but Ill take it). I haven'``t heard hot or hi since she was about Nolan's age. She also dropped a couple "daddy"'s too. We thought that one was a goner.
This girl never fails to amaze me. never fails to bring me out of my funk. I know I'm not immune to days like the past 2 have been...but today is a good day and I will take it!
Here is a video of Avery saying a few of the new goodies!
video

Friday, May 7, 2010

just pure goodness



So last week a fellow Rett mom (Kelly, who is awesome) put a few items up on her blog to auction off for the Dress Up 2 Cure campaign for Girl Power 2 Cure. One of the items was a gorgeous necklace with a "hope" pendant. Hope is my "thing" these days because every second of every hour I am HOPING that my daughters life will change dramatically and she will be treated or Cured of Rett syndrome. So I bid on the necklace. A few times. One of the other bidders happened to be another awesome Rett mommy (I'll call her "C" in case she wants to remain anonymous). This Rett mommy I have met a few times, most recently a week or so ago for a delicious sushi dinner where we talked for 4 + hours straight without stopping-except to sip our drinks and eat of course. Turns out this Rett mommy also WON that necklace! MY Hope necklace! Bummer. I even gave her hard time for winning when I saw her at dinner.
Today, I go get the mail and there is a small package in there from Kelly/Girl Power 2 Cure. Im puzzled? I open it and see this:
To: Erica
From: "C"
in a cute little box with a cute little ribbon-my necklace!



Cue the tears. I'd like to think I would be that thoughtful but Im not. Once again blown away by the goodness in the world. thank you "C", I needed to be reminded of that. thanks to all of you Rett parents for being a wonderful people I can look up to, get advice from, lean on, vent to and laugh with. Im ridiculously thankful to have all of you in my life, even if it means Rett syndrome has to be there too. I hope one day it wont be, but I KNOW that when that day comes we will still be friends-really good friends.



Monday, May 3, 2010

I guess Ill write about golf...


Lately I have had the urge to blog but havent really known what to say. "I hate my life with Rett syndrome" pretty much sums it up, so on to lighter topics for now.

Golf.

I grew up with an older brother who-as far as memory serves-was obsessed with watching baseball. So, I watched it too b/c back then people only had one TV and none of this pausing, rewinding recording business. My brother is 5 years my senior so I of course wanted him to like me more than anything and I had to suck up a few baseball games to make him think I was cool. It was SO BORING. I thought there might not be anything more boring than baseball, save for watching paint dry or water boil. But I did it because I had to be cool. We watched a lot of NFL football too and probably soccer although I dont remember there being that much on TV back then (Dave, help me out?)
Anyway, my mom strangely enough really enjoyed watching golf. Im not sure why or how she got interested (one of those questions I never thought to ask her and now really want to know now that I cant ask) but she watched with enthusiasm and oddly I liked it too. I could appreciate the fact that it wasn't as easy as they made it look and there was nothing like a good "oooooooohhhhhhh" as you watch the ball closely pass up the hole.
Well, I grew up and got too cool and was interested in much more important things like going to the mall and talking on the phone to my friends whose house I just left (we had that much to talk about!) and I lost interest in watching golf, or any sports really.
Enter my husband. College baseball player, dreams of the big leagues. He taught me why baseball is so cool and now I even listen to Giants games on the radio, even if he isn't in the car. He is one of those guys who is honestly pretty good at any sport he tries and plays golf rather well. I decided a long time ago that I would be that wife that didnt golf, for that to be his thing with his buddies and I would maybe learn later when the kids were grown up and we had nothing else to do. But I quickly realized that golf is an all day event, with pre game visits to the driving range and post game "settling up" in the clubhouse with a beer or ten. I was never going to have a hobby that required 6 hours of my time. Ever. I love to shop but you cant really do it for 6 hours! My mom always told me to learn, that I would be good at it and I should take lessons. But nope. Not for me.
A few years ago we joined a golf club here in pleasant hill and I was none too happy about it really. I kicked and screamed the whole way. But their pool has turned out to be a great place to take the kids and i do love the 4th of July party. I just stayed away from the golf.
Recently, our very good friends challenged me to learn and used their condo in Hawaii as incentive-if we ever wanted to be invited again, I had to learn to play. Umm yes please! So, she actually gave me her old clubs, I got a super cute Titleist bag for christmas and a few outfits-all set.
So a few months ago, after several visits to the range, we actually had some time to play a few holes. I wanted to go just the two of us but its tough to do. There we were at the 1st tee and a father and son come up to us "mind if we join you?". ugh. You cant really say no. So we warned them and off we went. We played 5 holes that day I think and I stunk. But it was fun and Red was so excited to have me out there. I started to get why he loves it so much. We went to the range a few times after that and then recently we played 8 holes. We just showed up and went out on an open hole. I was shooting between 14 and 18 on every hole! plus or minus a few! ouch. Two or three weeks ago we actually called and got a time. We got geared up and went out. They had us with another couple and I just wasnt feeling it so we passed on the time and went to hit balls. We came back up and they said we could tee off. We happened to run into an acquaintance of Red's who said "play with them-they are fun" as he pointed to a couple getting ready at the 1st tee. I was uncomfortable but we asked and they couldnt have been nicer. It was a husband and wife-who we later found out were the parents to a girl who had babysat Avery a few times. Small world. Anyway-we had a great time. Sure I moved a couple balls around and didnt pay too much attention to my strokes (I did shoot the same as Red on hole #5 however!) but I had some good shots and I wished we could have stayed longer.
Saturday, the same friends who have the place in Hawaii offered to take our kids while we went and played. So nice. So off the range we went and after an hour there snuck out on the course again and got in 4 holes. At the range I was hitting 'em well. There is really nothing like hitting the golf ball in the right spot. I paused for a minute and thought of my mom and how super happy she would be to see me doing it. I just shook my head and said "moms are always right". It was so much fun I asked Red "Can we get a tee time next weekend and play 18?" Never thought I would be saying that.
So Saturday we are playing a full round (if we can get a sitter and if we can get it in) at 3:20 and so far we are just a twosome. Im really excited. thank you mom for planting the seed and to my husband for adding the sun and water!