Her Rare Life

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

Tuesday, February 7, 2012

Reminds me when she first got baby teeth

Heehee... Sadie has 3 adult front teeth and 2 adult molars and 8 baby molars left in her mouth. As strange as her teeth look now, I think they are beautiful and so much better than all the super crowded 8 teeth that were there.
I spoke to the cardiologist today and her ASD hole is still 4mm and VSD hole is a few mm. He said not large enough to repair in surgery. However he was very clear that she should have a follow up EKG and echo on her heart in 9-12 months. Should be done under sedation again too. Ugh. But good news none the less that se doesn't need surgery. Yay!!!!

"Everybody is a genius. But if you judge a fish by its ability to climb a tree, it will live its whole life believing that it is stupid" ~ Albert Einstein

Sent from my iPhone

Tuesday, February 7, 2012

Reminds me when she first got baby teeth

Time is a Thief