Meet our SN kids
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October 7th, 2009, 10:47 AM
Crazy is as crazy does
Join Date: Oct 2009
There are some beautiful children here!
Meet Amber. (sorry not enough posts for pictures yet)
Amber is an identical twin but she has a genetic birth disorder called "Beckwith-Wiedemann Syndrome". Her twin, Lauren, does not. They are both 2 years old and very active!
Here the is medical definition of Beckwith-Wiedemann Syndrome:
An overgrowth syndrome, whose clinical manifestations typically include macrosomia (large body size), macroglossia (large tongue), organomegaly (enlarged organs), hemihypertroph (overgrowth of one side of the body), neonatal hypoglycemia (low blood sugar in the newborn period), and ear creases and ear pits. Some may exhibit birthmarks over their eyes, commonly known as "angel's kisses" or "stork bites". Patients with this syndrome have an increased risk of embryonal malignancies such as Wilms Tumor (like cancerous growth on the organs), and adrenocortical cancer. This effects about 1 in 15,000 births.
Currently, Amber only has the Macroglossia and the Angel's Kisses. She has to have blood drawn every 6 weeks and ultrasounds every 4 months to check for elevated protein levels and unusual growth.
Should Amber develop tumors it is treated like an agressive cancer. Surgery, chemo, etc. So far so good. No abnormalities detected yet!
I have a frustrating over the lack of information there is on BWS. I mean there's ton of technical information available on the web, but you need a PhD just to figure out the terminology. Also, since it's such a rare (I won't say disease) case, there are no active support groups in our area, so there's no one to talk to in person.
But Amber is a happy child, nonetheless. When she smiles, her entire face just lights up. She has issues with textures so she is a very picjy eater. She will need speech therapy for a long time to learn how to control her tongue so she can correctly pronounce words. Right now Lauren has a limited vocabulary, but Amber has only been able to say "dada" and "mama".
She's starting a homeschool program with Lauren next week where the teacher & therapist will work with both in developing their cognitive abilities and with Amber for speech.
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