Friday, February 6, 2015

Awareness of PACS1

Ever heard of PACS1?
Neither did I until I heard from my blogger friend, Kerri, who was trying to spread awareness about it cause her kid; Bridget was recently diagnosed with it. 
She is "just" the 20th child in the whole wide world to be diagnosed with it. 
Kerri's maternal instincts knew that Bridget had an unknown syndrome. Her blog name was "undiagnosed but okay!"
But she was unwilling to just “wait for science to catch up”. Thus, one beautiful day, Kerri and her husband went to a geneticist to review their history, family history and tested out for 3-5 genes that could be the potential of the problem. 
Bridget had multiple tests. It wasn’t until they took a leap of faith and went to a private MD where her DNA (called Exome sequencing) was viewed strand by strand. That testing showed that the PACS1 gene was mutated. The mutant PACS1 mRNA in zebrafish embryos induces craniofacial defects most likely in a dominant-negative fashion. 
Until her daughter was "finally" diagnosed. After which she changed her blog name to, "diagnosed and still okay!"
What a brave soul. I commend her!
Upon searching the database, they found 19 other children suffering from this syndrome. 
Thus, making this awareness worldwide crucial. More so for the doctors to be aware of this syndrome so that they test for PACS1 as part of their array and avoid parents of these kids to undergo the trauma of going through the lengthy measures of the insurance company and wait up for approval of the many scientific boards!
Today, as Bridget joins the 19 other children on the road of hope for recovery as the flaw has been recognized.  
Let's join hands with these 20 families to spread awareness so that no parents are left anxious and in the dark when their child is showing symptoms that a doc cannot identify.
It is a prayer and wish of every mom when she talks to her baby in her womb to go and conquer the world, no matter what!
Today, as Bridget and her 19 friends from different parts of the world walk along hand in hand. Let's back them with just a mere support, while appreciating their existence and striving to make a better, and safer (fingers crossed!) haven for them. 
Mantra for today: Nothing is impossible when humans unite under one front!

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