Wednesday, April 29, 2009

Archer "Playing" Soccer

Because he can't just take a "regular" picture...









video

Still here...

With all the neglect that has been going on with our blog you would think the above headline was true. Don't worry, we aren't leaving the Union...yet. Anyway, we have lots of updates coming so be patient with us. Meanwhile, enjoy these pictures of Archer and the Terminator Head that Papa Bee sent.
And making slime...

Sunday, April 12, 2009

Della Doesn't Have Rett Syndrome...Hooray!/?


A few posts ago I wrote about some genetic testing and an MRI Della was having done. We got the results back for both tests on the same day and the news was good. First and foremost, Della does not have Rett Syndrome nor a slew of 200 other genetic syndromes associated with this specific gene mutation.

The MRI came back with no obvious problems. Needless to say it was not a plesent experience. I think the hardest part is not being able to communicate with Della, to explain to her what is happening and that it is only temporary. She was not happy to be there and she pulled out her IV twice. Not fun. Only the first half of the MRI was able to be performed because they (the hospital staff) weren't able to keep Della still. She was sedated and asleep but her little body was twitching sporadically (probably because she was so agitated beforehand). The second part of the MRI was a functional near-infrared imaging (FNIR) which measures metabolic functions. This is a very precise scan and any movement will affect the results. The anesthesiologist gave Della the maximum amount of the sedative that he was comfortable in giving her, but after 2 hours her blood pressure was beginning to fall and fluid was starting to pool in her lungs. This complication was probably due to her hypotonia (overall muscle weakness) meaning that her body just isn't strong enough to handle sedation without being intubated. Translation- Della has to repeat the FNIR under general anesthesia because she will have to have a breathing tube inserted and have a ventilator breathe for her. Yuck. We will be scheduling that soon-ish.

Her MRI results from 2007 showed an immaturity in the amount of gray matter in the brain but the MRI from 4/1/2009 shows that there has been an increase of myelin growth. This means that neural pathways have been established and these are essential in the development of language, comprehension, motivation, emotions, and connecting both hemispheres of the brain. Neural pathways also connect the brain to the nervous system which controls a lot of other functions like reactions to stimuli. Although there were no glaring problems and proof that her brain has grown, there is no test to measure how many of these pathways have been established or where they are lacking.

These results came as bittersweet and it is a very strange position to be in (emotionally speaking). Of course we are so happy that Della doesn't have Rett Syndrome, but as the neurologist over the phone, "I still can't give you an explanation of what is causing her developmental delays." Clearly something is going on, it just doesn't happen to be Rett.

Meanwhile...Della started signing "want" and "all done" spontaneously and appropriately with out anyone prompting her. She first signed "all done" when we walked into speech therapy 3 weeks ago. I tried to tell her that we weren't "all done" with speech and that, in fact, we hadn't even started our session. She didn't care to hear that. Della also signed "want" last week when her great-grandparents were visiting. Papa was holding a drink and sharing it with her. Whenever he took the drink away, she would sign that she wanted it back!

Drinking goldfish...
Curly mop...