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 (; 617-355-5230) or visit

3 thoughts on “Field Trip!

  1. You are so committed to letting her express herself. I'm sure that has something to do with her ability to calm down quickly. Often, when Abby gets upset, I just try to calm her down without addressing the “why” business.

    I love the face painting!

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