This morning Sadie's Cardiologist said he was unable to get a good look at the holes in her heart (ASD, atrial septal defect; VSD, ventricular septal defect) because Sadie would not lay still enough during the ultra sound. Therefore, Sadie will be going under sedation at the children's hospital for a 30 to 45 minute thorough ultra sound sometime in January. The Cardiologist will also have scheduled a catheterization (at the same time) to repair the ASD hole at the same time IF it is found during the ultra sound that the hole NEEDS to be repaired. The idea is to sedate her once and just do the repair rather than tell us the results and do the procedure later. Best case: sedated ultra sound. Worst case: catheterization and repair the hole, which is called an Amplatzer Device (http://www.amplatzer.com/products/asd_devices/tabid/179/default.aspx ). Both of which we will be prepared for the same time if needed. This is obviously surprising news, but the doctor has reassured us that with all procedures there is risk, but that the catheterization repair is performed by a well trained Cardiologist who does nearly 50 a year.
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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
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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...