Todays the final day of Rare Chromosome Disorder Awareness Week. Why is this week important? Ill summarize our story: I was 17 weeks pregnant when they found birth defects via ultrasound. The perinatologist believed it was likely he had down syndrome and suggested I abort. That was out of the question, and I also refused amnio because I have a cousin with DS and it didnt seem like a big deal to me. Then he was born. According to the geneticist we consulted with, he was likely a dwarf, and TOO CUTE to have a chromosome disorder. Our pediatrician dismissed all the tell-tale symptoms for his entire first year because of the misinformation and lack of follow through from the award winning geneticist. (birth defects, small for dates, feeding difficulties [blamed on my nursing], failure to thrive [blamed on my supposed lack of milk production], missed milestones [blamed on my parenting--babying him because hes the youngest], and constant illness [he just caught a lot of bugs]..... it wasnt until we relocated from FL to OH that we got a doctor who acknowledged the obvious and sent for genetic testing. Turns out my intuitions were right, and the other Doctors were wrong. Rare Chromosome Disorders are actually common, collectively, yet, MANY patients will never be adequately diagnosed and may suffer through school, or their parents may be blamed for things that are no ones fault.... Heres an overview of his journey. Hes now 6 years old, but developmentally he is around 1-2 years of age. youtube/watch?v=kWVOdEmaNeE&list=UUPN6JcpM_mw5j_n8MQXoaxA&feature=share&index=1
Posted on: Sun, 08 Jun 2014 02:46:09 +0000
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