December 29, 2009
Sadie had to give blood again for the gene sequencing UBE3A test. This is the sequencing test to see if she has Angelman Syndrome (the other test was negative). My gut tells me that the test will be negative, but Bill thinks it will be positive.
My mom went with us to the lab. Of course, Sadie fought the entire time. The first nurse "blew" the vein in her left arm. Another nurse took over and was able to get 3 tubes of blood from the right arm. Sadie straddled my lap while Poppy and the nurse held her arm still. She screamed and cried the entire time...I cried.
Another exciting day in our family...I hate all of these appointments.
Two days later, I open a letter from our insurance company stating the test will be covered (already preauthorized by the doctor) for 1/1/2009 to 2/1/2009. My stomach lurched...the test is 1800 dollars and we have a 20% coinsurance payment. Today, I spoke with the genetic counselor and she assured me that it's okay and it will still be approved. We already met the $2000 yearly (2008) out of pocket for Sadie, so we wanted to get the test in before the end of the year.
This week we are trying to figure out Sadie's school situation, now that we had to pull her from private inclusion...the teachers didn't know what to do with her...she wanders the classroom while the other children are function and age appropriate.
She's also been sick with a sinus infection...me too. We are both on antibotics.
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
Monday, January 5, 2009
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...