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, May 14, 2010
Thursday, May 13, 2010
Hibiscus Flowers on DAFOs
The Henry's Family....Sadie has the same hibiscus flowers on her dafos!!!
Sent from my Verizon Wireless BlackBerry
Sent from my Verizon Wireless BlackBerry
Wednesday, May 12, 2010
Ortho update
I'm making this short and sweet because I'm exhausted. We saw the orthopedic surgeon yesterday for Sadie's annual checkup. He said her feet look good, but she is still toeing-in. He recommended tibia torsion surgery, where the tibia is cut and then turned, and reattached so the foot is turned out or straight. She would then be in casts for 6 weeks....sounds like ZERO fun...for me or her...for right now...i say NO.
Saturday, May 8, 2010
Several postings ago
I would like to say for the record that I don't agree with the doctor that said Sadie was experiencing the terrible 2s....She didn't feel good and had the beginning symptoms of a sinus infection. She probably had a headache...anyway, she ended up being on back to back antibiotics 5 days after that appointment and a runny nose 1 day after that appointment. AND she is now on allegra for allergies.
Tuesday, May 4, 2010
Killing time between doctor appointments at the park
Geneticist appointment in the a.m. And PCP in the p.m. We got lucky and spent a great 45 minutes enjoying the sun and beautiful weather.
There's a newer better Microarray test that shows the bands of genes on a chromosome up to 2,000,000. It's called the SNP (pronounced snip) Microarray. The last test Sadie had a year and a half ago was the CGH Microarray, which showed up to 1,000 bands.
This is so important because genes control more than just hair and eye color, they also control, block, and communicate (epigenetics) with tumor receptors, cancer, other medical issues that might come up. Knowing which genes are missing, in Sadie's case, will help us keep a close eye on any potential medical issues. We know that Sadie is missing the gene that suppresses bladder tumors. So we will monitor her bladder.
Etc etc etc....
Sent from my Verizon Wireless BlackBerry
There's a newer better Microarray test that shows the bands of genes on a chromosome up to 2,000,000. It's called the SNP (pronounced snip) Microarray. The last test Sadie had a year and a half ago was the CGH Microarray, which showed up to 1,000 bands.
This is so important because genes control more than just hair and eye color, they also control, block, and communicate (epigenetics) with tumor receptors, cancer, other medical issues that might come up. Knowing which genes are missing, in Sadie's case, will help us keep a close eye on any potential medical issues. We know that Sadie is missing the gene that suppresses bladder tumors. So we will monitor her bladder.
Etc etc etc....
Sent from my Verizon Wireless BlackBerry
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