Serve God love me and mend
This is not the end
Lived unbruised we are friends
And 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)
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????
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 (firstname.lastname@example.org; 617-355-5230) or visit www.childrenshospital.org/rett.
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.
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.