This much I know, it wasn't boring

I just looked at the calendar and noticed that on Saturday, it will be a whole new year, wow, that was fast! I have to say that all in all, I think it was a good year for us. It wasn't easy and certainly wasn't boring. It started off a little rough. I was in a terrible amount of pain from injuries I had gotten in an accident the previous March. After having a really great trial with the Eco we had to send it back and again, Claire had no voice, which she found very frustrating. Chloe was just starting to really do all of the things that Claire had once mastered and then lost which felt a lot like having my heart constantly ripped out and stomped on. However it was through that craziness that I got back to a place where I started to feel again and I can not say how wonderful that has been. I think I had been pretty close to a zombie, trapped on a hamster wheel of survival for a solid 2 maybe 3 years and this was the year that I got off. February was really the month that changed the pace. First I had surgery on my wrist which really helped once I recovered. Since I wasn't much use with one hand I got to sit and have my tattoo finished, which was such a good way to really feel, I am still surprised at just how therapeutic that process was. Then we had Erika's Dream which was a lot of fun. There is something so rejuvenating about being around our Rett family, they just give life. Then Make A Wish sent Claire and our family down to Disneyland to meet Ariel. That was a game changer, really, Make A Wish is awesome. The way that trip encouraged and inspired Claire was transformational, it gave her the confidence that she carries today. I think it was around the end of March that the Eco came, that was also a huge part of this year. I can't imagine life without her voice, even when it is annoying and she says the same thing 30 million times in a row, I love it! I would have never imagined that Claire would be teaching her sister how to say silly things, but with the Eco that has happened. Chloe has grown by leaps and bounds by the minute the whole year through. She is such a sweet and caring little girl. I have loved getting to know her spirit and seeing what is possible when all the DNA gets in the right order, it is amazing! Before Chloe I honestly didn't get why people would want to have so many kids (more than 2) but now I can say that it makes a lot more sense. No, that is in no way an announcement, we are very content with 2 little girls, if I were to guess, the next thing we add to the family would be a male service dog. Back to the story, this summer I had my first and most likely last trip to Las Vegas. I got to spend time with some of the greatest moms that grace this planet today and with no kids! Erica dubbed it the rettaway and I am hoping that something of that nature lines up again for 2011 because it was epic. I think that one of the defining things of the last year has been the deep friendships that I have made within the rett world. Even though many of them are not really close, just knowing that there are others out there has given me great peace and I love you guys so much! If there were a metaphor for this last year I would compare it to a scab. The injury wasn't super fresh, but it hurt. As it heeled and peeled off it was a different kind of fresh hurt, but I could start to use it more. After this year of having the scab picked off and regrow and eventually heal, there is still a little scar tissue, but I am functional. I am excited for 2011. If there is anything that the last year taught me it was that I don't dream big enough. So with that, I suppose that I can't even start to think about the fun and exciting things that will take place in the next year, but I know that it is out there, and I am ready for it! I am hoping that among the fun stuff for next year is a trip to Boston in May and since I am working on the whole dreaming big thing, I am going to through out that I hope they announce the cure while I am there, that would be really, really cool! Final thought, I have decided that Sigh No More by Mumford & Sons was my theme song to 2010, so here are the lyrics for you.

Serve God love me and mend
This is not the end
Lived unbruised we are friends
And I'm sorry
I'm sorry

Sigh no more, no more
One foot in sea, one on shore
My heart was never pure
And you know me
And you know me

And man is a giddy thing
Oh man is a giddy thing
Oh man is a giddy thing
Oh man is a giddy thing

Love it will not betray you, dismay or enslave you,
It will set you free
Be more like the man you were made to be.
There is a design,
An alignment to cry,
Of my heart to see,
The beauty of love as it was made to be (x4)


Christmas 2010

Over the last few weeks there have been a lot of posts out there about what people have been doing to celebrate the holidays, how the holidays are hard and how cute their kids are in special holiday attire. So the holiday celebrating was supposed to start Dec. 1. For the second year in a row, I forgot to get candles for the Menorah so the Festival of Lights was off to a weak start, really I think 2011 will be my year, it is later in the month, which I am sure will help. We did however manage to pull off a few successes in the weeks leading up to Christmas. We took the girls out to look at the lights in Vasona park and they really liked it. Considering that the last time we did it Claire was screaming in the entire way through, followed by vomiting , which explained the screaming, this was a huge success.

We also put up a tree and had the sense to buy a fake one that was pre lit, so it even had lights. We only got four ornaments on it, I figure I need to leave something to improve on for next year. There was also a very successful trip to the Christmas party for where Claire rides horses. She was very excited to see Santa and as it turns out, Chloe was not. On the bright side there was a firetruck for her to play in so there wasn't too much crying.
Beyond that, we really didn't do much during the advent season. With that said, it has been a huge improvement from the last three years, so I am pretty excited about it. The thing that really made this year stand out over last year was that we got to be with family. Last year was a bit depressing doing Christmas just the four of us, Jared and I were the only two who could speak. Claire was hating life without her talker as we had just returned it from the trial and Chloe was more of a danger to herself because she could get into things but didn't have the understanding of what she was doing or consequences so she was a handful. What a difference a year has made! Claire has really started to be able to better express herself with her talker and Chloe has grown by leaps and bounds. Instead of sticking her hand in the fire she can now stop and say 'no that's hot no no no' which really helps, A LOT. We drove down to San Luis Obispo and met up with my parents and my brother. We took a boat ride on an electric boat in Moro Bay, Claire has always loved going on boats. This was Chloe's first trip and she wanted to get off and tried repeatedly to jump into the water, by the end of the trip she settled on steering.
Sometime after our boat ride Claire started having some extra weird neurological activity and that sorta put a damper on the cheer level for Jared and I. We tried and to just push through and enjoy the time with family and it was nice. It was the most fun we've had opening presents (my rett friends out there know just how horrible this activity is) since Claire was 1. I am guessing that night we just didn't get enough sleep or the month of advent caught up to us. But Christmas Day wasn't the smoothest of rides, although rather eventful. During the chaos of trying to keep both girls happy at the breakfast table,
Jared put the crayons in Claire's juice, which was a lot funnier than it was frustrating, only because he immediately labeled it a Captain Awesome moment. It was pouring rain outside so we had to stay in. Chloe made friends with many people as she went up and down the stairs and up and down the stairs. Claire fell asleep by the fire as I sat and cried, mourning all of the things that rett has taken from us, struggling to be thankful that at least she is doing well and still with us, thinking of the two families that had lost girls recently. We wrapped up the holiday with a family picnic in my brother's room. The only place in town was a taco shack and so that is what we had for dinner. It felt reminiscent of A Christmas Story and a small part of me wanted to break out into Deck the Halls with the ra-ra-ra from the movie, but I was too tired. We drove home that night, a little early. As we laid the girls down and got settled back in, it is good to be home, I am thankful for a lot and I am so happy that the holidays are over! Now onto fixing Rett syndrome in 2011, who's with me????


Field Trip!

Since Claire has started kindergarten, she has 35% of her day in inclusion with a mainstream kindergarten class. Last week they went to the children's discovery museum and Claire got to go along for the whole day! I knew that I had to go guarded but that I would have to go. I drove Claire, her aide and another little girl from the class. Lucky for us, there was an accident so the 40 minute trip took an extra hour and used up all of our boredom margin in the process. Once we got there is was a little rough at first. The first exhibit I saw the kids playing in was the access/ABILITY. This was the exhibit that the teacher was so excited about for her peers to see. See it they did, one girl played in a pediatric wheel chair and wheeled her self around. How horrible is it that I watched this all I could think is, that is hardly disabled, sure they can't walk, but that's it. Show me a blind person with CP, that is disabled. I don't really think mean things about people who are confined to wheelchairs. really, I have friends with that singular handicap and it by no way shape or form easy. It just seems like what we have is so hard! So hard that an exhibit would never even think about ABILITY on our level, what it takes to get Claire to participate in life. So with that I sat hiding in a corner after a short time I could hear Claire as she was clearly not happy and her aide didn't have a clue. I stayed back and really tried to let Lupe, the aide, do her thing, but she didn't so I stepped in. I have to remind myself that Claire is in an autism classroom and the aides are trained to work with that population, it is easy to forget that Claire works very differently because similar behaviors present. So Lupe was trying to calm her sensory system when I stepped in. I asked a few questions and figured out that Claire was lonely. Lupe had been playing one on one with Claire, while Claire wanted Lupe's help to play with her friends, a very different thing. Once we figured that out, Claire did a little of her heart wrenching sad crying and calmed down. I can't imagine what it would be like to be 5 and want to play with your friends and just not have the ability to get the grown ups around to help, so I really think the screaming was fully warranted. I took them to find the classroom teacher Mrs. J who would know who Claire's friends were. She pointed them in the right direction and Claire was happy as a clam. The teacher also took the time to ask me questions about placement and weather or not Claire was in the most appropriate class. I know she was well intended but it pretty much came across like, "I don't think this is good for her." Sigh. I know it is hard, but sadly, it id the best option and it took me about 15 minutes to explain this to the teacher, not sure that she ever got it. Claire went on to make a corn husk doll and play in the clay room where she again got a little upset, only because she was starving and a little snack fixed that quickly. By that time I had also showed Lupe how to use the yes/no cards, that helped a ton! We finished up with face painting, where one of Claire's friends, the little girl in the car with us, painted Claire like a tiger. Claire loved being a tiger, loved! We sat and enjoyed lunch on a park bench with her peers and left happy. I am so glad that Claire gets over things faster than I do, her perseverance continues to amaze me. In the end, we did it! We went to the museum and we left with smiles on our faces, I do think that it will be a long time before we go back though.

On a side note, I want to share this very exciting research. It pretty much says that what we are doing really works. Putting Claire in a rich environment really is critical to her brain development, so we will most likely continue to torture ourselves with fun stuff like this until we get the medicine in the trial, in which case hopefully we will be able to do the same fun stuff, it will just be less torture because her brain will fire better.

Clinical Trial For Rett Syndrome Launched

Study marks the emergence of disease-modifying treatments for autism spectrum disorders

BOSTON, Dec. 16, 2010 /PRNewswire-USNewswire/ -- Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls. The drug, mecasermin, a synthetic form of insulin-like growth factor-1 (IGF-1), is already FDA-approved for children with short stature due to IGF-1 deficiency.

The trial, now enrolling patients, marks the beginning of a trend toward drug treatments seeking to modify the underlying causes of autism spectrum disorders, rather than just behavioral symptoms such as anxiety or aggression. It follows research in animal models, published in 2009(1), which suggested that raising IGF-1 levels can reverse features of Rett syndrome by enhancing maturation of synapses —the points of communication between brain cells.

"We expect that therapy that stimulates synaptic maturation will serve as a model for pharmacological treatment of not only Rett syndrome, but of other autism spectrum disorders," says Omar Khwaja, MD, PhD, the study's principal investigator and director of the Rett Syndrome Program in the Department of Neurology at Children's.

Rett syndrome, occurring almost exclusively in girls, is an X-linked neurodevelopmental disorder causing severe cognitive, motor and language problems and autistic behaviors. Other features include loss of purposeful use of the hands; repetitive, stereotyped hand movements; slowed brain and head growth; and heart-rhythm and breathing problems. Although affected children appear normal during their first six months of life, symptoms emerge, tragically, between 6 and 18 months of age, a prime period of synaptic development.

The three-year pilot study will randomize 40 girls (aged 2 to 12) with Rett syndrome to receive the drug, known as Increlex® (Tercica Inc., a Subsidiary of the IPSEN Group) for five months. The study will use a cross-over design, allowing girls assigned to placebo to switch to active treatment after a six-week "washout" period. The main outcome measures will be improvement in neurodevelopment and in cardiorespiratory function.

Although Rett syndrome used to be seen as a degenerative, irreversible disease, recent research indicates that brain cells aren't actually lost, and the brain is structurally normal – instead, the synapses between cells are weak, preventing brain circuits from maturing. Rett syndrome's usual cause is mutation or deletion of a gene called MeCP2, which itself controls a group of genes that regulate synaptic changes in response to input from the environment. In 2007, working with a mouse model of Rett syndrome, researchers used genetic tricks to restore MeCP2's function in the brain.(2) The mice showed a striking recovery, suggesting that Rett syndrome, even when well established, might be a treatable disease – if only synapses could be built back up.

"This was an enormous intellectual proof-of-principle that we aren't wasting time thinking of therapies for girls who are already symptomatic," says Khwaja. "Before, it was thought that if there ever was a treatment, it would have to be given before symptoms appeared, and that once the disease started it couldn't be reversed."

IGF-1, the drug used in the trial, is indirectly regulated by MeCP2. It has been shown to enhance synapse maturation, and in mice missing the MeCP2 gene, treatment with IGF-1 ameliorated several features of their Rett-like disease.(1)

"There's been a big sea change in how Rett syndrome and other neurodevelopmental disorders are viewed," Khwaja says. "The synapses are very dynamic. They need to be stabilized, and if they don't receive the right stimulus, they'll naturally disappear. That change in paradigm has really affected the way that we look at treatments, and I think it brings a lot more hope."

The new view has already affected the way schooling and education of children with Rett syndrome are being approached. "There's more and more evidence in animals that enrichment and schooling can help synapses form and strengthen," says Khwaja. "The battle is getting the girls into appropriate educational settings. If you are repetitive, and give them ways to communicate, they actually can learn, and that's probably because you're reinforcing these synaptic connections."

The clinical trial is funded by the International Rett Syndrome Foundation, Autism Speaks and Harvard University's Catalyst Pilot Awards for Clinical Translational Research. For information on enrollment, contact Katherine Barnes (katherine.barnes@childrens.harvard.edu; 617-355-5230) or visit www.childrenshospital.org/rett.


My Little Slice of Joy this Season

It might not look like that exciting of a picture, just some dirty dishes, but to me, they are so much more! With the background that I have in pastry, I love the candy cane and gingerbread Christmas themed stuff, for several years I had the honor of assisting on gingerbread works of art at the Westin and I am forever changed. In my soul I wish I was in the Midwest snowed in a baking cookies and other such holiday traditions that are cultural like that. So a few years ago, when I saw this set of mugs and dessert plates with joy on them, I decided it was something that I had to have. They have been very safe in my cupboard, although they have been lonely. Since getting them in 2008 I had yet to use them. Tonight was the night that that changed and it was wonderful! Not only did I get to use my plates and mugs, I got to cook for friends, which is one of my favorite things to do in the whole world. Erica and Maren came over for our advent conspiracy type craft night. I really didn't do much, I was more in a management role really. I had hands available to hold a tight knot or take excess trash away. Erica was the mastermind behind it all, doesn't she look crafty!
Maren, well, she gave a good effort, you can see that she had a few challenges. I kid, Maren is the craftiest of the crafties. She just happened to have a little bag of hair clips and earrings that she had made (who makes jewelry more or less wear it???) and left the cutest pair of little purple flower earrings that I think a certain 5 year old will be pretty happy about in the morning. Anyway, back to our night. I could go on and on about how we laughed, made a mess and sent Jared to the grocery store. It is a good story and I suspect pieces of it might end up out in the blogoshpere from my partners in crime. But for me, I just liked having friends over, a lot. I have been really blessed to get to have two moms like this close enough that they can come over, even if it is a two hour drive.


The Irony of Christmas

Today was one of those days, you know, those days that you feel too close to loosing the will. It wasn't anything too big, a few crazy teething poop diaper blow outs, an ant hill that ended up in Chloe's hair along with Claire's frustration with my inability to read her mind resulting in several bouts of sad/angry screaming. Then it was dinner time. Jared went to pour Chloe a cup of milk when I noticed that the milk was almost gone and we wouldn't get more until Thursday, wait Thursday, we pick up the veggies and milk on Thursday, today is Friday, nobody got the milk and veggies yesterday, it was this realization that pretty much threw me over the edge. So I did the only thing I had energy for, I locked myself in my room and went to facebook. Something so oddly numbing about that site, comforting and isolating all at once, it seemed an appropriate place for my pity party. I chatted with two of my rett mom friends (btw, so thankful for you guys, chatting helps, I do feel better). One of them said something interesting, about it being that hard time of the year. Her daughter is younger than Claire and this will be her first Christmas with the Rett syndrome diagnosis. Funny how holidays in general aren't easy. Add a kid who can't use their body and they get a lot harder. It got me thinking about the O'Rourke family, who laid their precious little Aidan to rest today. I hate that Rett syndrome takes children, I hate even more that it can happen during any period of time that is "supposed" to a time of joy and celebration. It is so hard to get excited about Santa at the mall and baking cookies when pain like this is so close to you. I know that none of that really has anything to do with Christmas and the birth of Christ, but it has become culturally accepted that that is what we do to celebrate. Tonight I am stuck on this great irony, that as we all slow down to celebrate the birth of the Christ child, a messenger of peace, that it is such a painful time for so many who have experienced loss. Ultimately, it is the peace that I have from the grace I have in Christ that gets me to keep putting one foot in front of the other on these hard days. I guess I just don't like that the way we go about celebrating so often excludes our girls because of their disability. I would love to hear what others out there is blogoshpere think, do you find it hard to celebrate, how do you do it?


LPCH, where everyone's the same

Yesterday was a pretty routine day for us, with the exception of a little trip over the hill to LPCH for Claire to see the eye doctor. Jared decided to take the day off so that I would be spared from taking Chloe along to Claire's appointment. After dropping Claire off at school we started the day slowly with coffee and a walk down to pleasure point, to say that it was epic is indeed an understatement. As we walked and enjoyed the sound of the waves gently crashing we did the download on all that the day contained. I really wasn't that worried about the trip to the doctor. It was a routine appointment and the worst that would come of it would be glasses. Funny how even on a good day, with the sunshine on my face and my husband by my side to help, deep down in there was a little bit of fear. We have so many memories from LPCH. Most of them involve needles and Claire or some sort of doctor telling us how worried they were. As much as I tried to believe that today would be different, a little voice inside me quietly whispered, she still has Rett syndrome. With that I was able to soak in the beauty of our morning walk and knock off a few things on the to do list before it was time to get Claire and start on the day's journey. We didn't have much traffic and we actually got there on time, which in itself is a small miracle. After checking in it was time to do what everyone else in the busy waiting room was doing, wait. It is an interesting area due to the variety of doctors serviced by that area. The lab is there, so you can hear young kids screaming as the friendly vampires do their best to stick them with needles and suck their blood in the gentlest of ways. There were a few people in wheel chairs and lots of people with glasses as the clinics that were open today were the orthopedist and the optometrist. A sweet and healthy little boy that was standing in front of us turned to look at Claire and said with so much care in his tone, "Did you break both of your legs?" She smiled and I told them that they weren't broken and he smiled and walked away. One dad that was patiently waiting struck up a conversation with me, he was there with two of his kids. They are both in different stages of the scoliosis surgery process, his eldest child also has scoliosis but hasn't had the surgery, yet. Got me thinking, they looked like such a normal family, kids dressed in varsity gear from the local upitty Palo Alto high school, but none the less, they were sitting in the same waiting room that we were. There were also families that looked to be of far more humble means. As I said to the father that I was not in line and that he could go, his son translated for him. There were people from so many different backgrounds there, so many different medical challenges. Reminded me of how we are all the same, so vulnerable, so helpless when it comes to our children. Finally we were called back and Claire was her 85% of the time wonderful little self and did everything that the doctor required of her. When we got around to seeing THE doctor she was so excited to see Claire. She remembered us from 3 years ago (memorable in a good way I hope) and that she was so glad to see that Claire was doing so well. That is code for "we expected her regression to be much worse and for Rett to have taken a lot more" but at least she chose to put it politely. I am also very glad that Claire isn't doing worse as they all had expected. So we took our script for glasses, packed up all of our gear and piled into the Smart car. We paused under the big tree before driving home to marvel at the leaves, to put it all back into perspective, that we all have a lot, that God is bigger than us and that He loves us enough to make really great children's hospitals that everyone can afford and then we drove home.


Mission Accomplished, well sort of

We did it, Claire had fun at her first birthday party with her peers. It was a little awkward to walk in as I had no idea what the birthday girl looked like or who her parents were. Claire goes off to class with Donna in the mornings so I haven't really met many of her friends yet. It was pretty crazy when we got there, kids running around like crazy, balloons all over the ceiling and Claire got overwhelmed pretty fast. Good thing I thought ahead and invited the amazing Sara to join us, she is our ABA trainer and is so good at helping Claire to calm down. We went for a walk and Claire came around pretty quickly. She is so brave, she went back into the party with a big smile on her face. We opted to watch from the window of the dance studio. It was pretty fun to watch the other kids dance, they had no idea how to break dance, but they sure tried! I always love seeing her bright smiling face after we do things like this with the rest of the world, but it always makes me sad, really really sad. I hate that the world doesn't know what to do with anyone who is different. One of the girls who is a friend to Claire asked why she wasn't feeding herself the cake with her own hands. On one hand it is sweet that she thinks that Claire should be able to do it, on the other hand it is so screwed up that she can't. I hate this game of having to walk on the edge, trying to keep one foot in the world of the typical people, where I know Claire loves to be and the other foot rooted safely in rettworld. I keep telling myself that this will get easier with time, and while I do believe that it true, I know that it won't get to the place where it will be easy. I guess I get the privilege of grieving for the rest of my life or so I hear. No time for that today though, we get to go to Jared's company Christmas party tonight. Two parties with the normal world in one day, I think I will be done for a while after this :-)

Here is a little clip of the kids dancing, you can't really see us sitting in the mirror, but Claire had a huge smile on her face, promise.