Our life, our experience, our history, about my daughter with a rare chromosome disorder. She is missing a small portion of her 8th chromosome, which is called a deletion. She also has a small part of XP added to that. Her karotype or diagnosis is deletion 8p23.3 with extra xp22.2 to the terminal deletion (a new chromosome test summer 2011 changed her karotype to deletion 8p23.2 with extra xp 22.12, essentially meaning more missing chromosome 8 and more added xp). #herrarelife
Friday, July 31, 2009
Debatable Postings
So here goes...Sadie had a speech evaluation on Monday, which I consider to have been a waste of time. While the therapist giving the evaluation truly meant well, I would like to think that when I tell you she used a standardized test you will understand that that means showing a notebook to Sadie with a choice of 4 pictures. She said please point to..., but when I told her that Sadie won't do that or understand that she said well I'll ask her to circle it instead. When she asked Sadie to circle/pat the skunk. Sadie didn't respond to pointing/patting/or kissing the pictures. She simply wanted to hold the therapist's pen. I asked her what level she started on...she responded 4 year old....AFTER, I had already told her that Sadie's receptive language is 18-20 months and expressive language is 6-9 months old. AMAZING. Needless to say, She went to the beginning of the test and got NO results. I continued to explain that we want to focus on basic communication/sign language/picture choices with photographs/concrete objects.
Who wears the Pants?
Photo was taken a few weeks ago at Surf Camp for disabled and underprivileged people
Saturday, July 25, 2009
The Skinny
Unfortunately, she's gotten that skinny look to her little body again and she can't bear to lose an ounce. She must have grown talls because I don't believe she's lost any weight.
I started giving her a small dose every other afternoon, which seems to be pretty effective right now. She's been eating better and I haven't had to work so hard to feed her.
Sent from my Verizon Wireless BlackBerry
Friday, July 24, 2009
fighting
Thursday, July 23, 2009
Miss Independent
Sent from my Verizon Wireless BlackBerry
Thursday, July 16, 2009
One of those days
To top it all off, my cell phone didn't charge properly last night because the "baby proof" outlet cover didn't allow the proper contact with the plug. So not only is there no electricity, there's also barely a phone. It has made me realize I should buy a regular old land line phone for emergencies.
So I call Bill and quickly ask him to call our neighbor. Our sweet "grandmotherly" neighbor runs over to give me some help. Sadie absolutely LOVES her and immediately reached out for her when she walked in the door. It's like passing a crying child over to someone who you know can calm them. It is a relief!
After the newness of our neighbor wears off, 5 minutes, Sadie starts freaking out again. Continuing to arch her back and throw herself down when the alarm beeps. She threw her self back and hit her head on the seat of a bench and then really let loose with the wails and tears.
Finally, the electricity comes back on and the only thing on my mind is getting that coffee maker on!!!
As the morning goes on for the next hour, Sadie manages to squeeze her juice box on the floor, crumbly a whole chocolate chocolate chip cookie in her mouth and spit the whole thing out in a 3 foot area, strip down to her birthday suit 2 times, flip off the couch backwards, and drool a red Flinstone vitamin all over our white tile kitchen floor. As for the juice box and cookie at 9 am, I will give her what ever it takes to calm her down and make her happy. It is just not worth it and I choose my battles wisely.
Meanwhile, we are in the playroom and she is wandering around and calm for hopefully a few minutes longer, so I can finish my venting and find strength to make it through the next 40 minutes. Nanny is picking her up at 11 and I can't wait!!!
Oh and I must give credit to our other sweet angel for handling the situation with grace.
Gotta run, Sadie is now stripping for the 3 time, time to alter some more clothes so she can't get out of them.
Time is a Thief
I don't remember the first time I heard the sentiment, "time is a thief." Recently it is heavy on my mind. I haven't post...
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and the flu panic begins... http://www.cloroxclassrooms.com/downloads/teacher_brochure.pdf
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Sadie has been having spasm type clinch arm and mouth type movements that last about 2 seconds randomly starting in June. For the past mont...
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Today I was feeling the need to read other stories about other children with chromosome disorders. I googled blogspot to see if I could find...