This beautiful girl with the strawberry blonde hair, eyes that sparkle, and a smile that lights up the Internet is Bridget.
Recently, Bridget was diagnosed with PACS1. I bet you’ve never heard of it. It’s an extremely rare genetic mutation that has affected only 20 children in the entire world. PACS1.
I encountered Bridget in the extraordinary blogosphere where one click leads to another leads to another led to this mesmerizing photo. Bridget’s smile reached through the screen, over thousands of cyber miles, and made me smile too. Undiagnosed but Okay, read the banner across the top of the blog. That mesmerized me. Who, I wondered, is undiagnosed? This little girl? Her mom? Someone else? And why are they undiagnosed? Why are they okay?
Bridget’s mom, my friend Kerri, is a working wife and mom of two. She always knew that Bridget had an unknown syndrome and she writes about life in general, but specifically about raising a child with special needs.
According to Kerri, many physicians are unaware of the existence of PACS1. Bridget has had multiple genetic tests during her life, all of which rendered nothing conclusive. Undiagnosed.
Through a series of clicks, a reader of Kerri’s blog shared the name of a doctor, and thinking it a long shot but trusting her instincts and the voice of a virtual stranger, Kerri embarked on a journey. And discovered PACS1.
This doctor examined Bridget’s DNA strand by strand, and found the PACS1 gene mutation. The orphan disease registry revealed 19 other children with this syndrome. So rare. So difficult to find. Because so few people, parents, doctors know about it.
Now diagnosed and still okay, Bridget and Kerri are no longer stumbling about in the land of the unknown. And they want to bring awareness and attention to this rare syndrome, so that parents will not be satisfied with “I don’t know” and undiagnosed. Even if okay. So that doctors will know to look for it. So that complicated genetic testing will be available to all. So that insurance companies will approve expenses.
Families, friends, bloggers, readers all over the world are joining together today, February 7, to raise awareness for PACS1 so that more children like Bridget do not go undiagnosed
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