I’m a little late with my Awareness!

My family has kind of been wiped out by the flu!  It’s been rough.  All six of us have been afflicted with the yuck over the last week and a half.  I’m still not well, but finally out of bed for a few hours each day (have to be, because my husband is now really, really sick!).  Trying to catch up on emails, bills and blogs.  It’s endless.  But I did want to pop in here with a post that I pledged to write and share on February 7th, for my friend Kerri.  Kerri, I’m so sorry I was unable to participate in the very first PACS1 Awareness day.  I’m a little late, but I did want to at least let my readers in the blogosphere know about this very rare disease.

Undiagnosed

Kerri is a blogger at Diagnosed and Still Okay – and her site is the former Undiagnosed but That’s Okay.  Kerri is a fellow New Englander and the mother of two sweet little girls.  Her youngest, Bridget, was recently diagnosed with PACS1.  Bridget is one of only twenty people in the would with this diagnosis!  Bridget was undiagnosed for years, but thanks to Kerri’s love and tenacious devotion, she found answers for her little girl.  Please visit Kerri’s blog to learn more about Bridget’s story.  There’s also a PACGS FaceBook page.  And below, in Kerri’s words, is more information about the condition:

The reason Bridget (and others) have a hard time being diagnosed is that physicians are unaware the syndrome exists. What happens when you go to a geneticist is he/she will look at your child, review their history, family history and then test for 3-5 genes that “might” be causing the problem based on those three criteria. Bridget had multiple tests like this. It wasn’t until we took a leap of faith (see below) and went to a private MD where her DNA (called Exome sequencing) was viewed strand by strand (via computer/health stuff that is beyond my understanding). That testing showed that the PACS1 gene was mutated. Once the mutation was found they looked into the orphan disease registry and viola found the 19 other children. This is why it is so important. Most parents are unable to get the Exome sequencing performed. If we had gone through our hospital it would have to be approved by 5 scientific boards and then the insurance company. That would have added years to her journey. BUT if doctors are aware of the syndrome, they will test for PACS1 as part of their array.

The leap of faith/following your instincts/fate. I always knew that Bridget had an unknown syndrome. But I was unwilling to just “wait for science to catch up”. A reader of my blog reached out and gave me the name of the doctor in GA. We thought long and hard, research the doctor, but then took a week off of work and traveled to find an answer. The answer might have been still a genetic abnormality never seen before. Instead we were given hope. So my hope with PACS1 Awareness is that a parent will never be satisfied when a doctor says they don’t know. To keep searching and never giving up on the finding an answer.

Now that’s the love of a Warrior Mom!

Please help us spread the word.

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15 thoughts on “I’m a little late with my Awareness!”

  1. The FLU!!!??? Ugh ugh ugh… I’m so sorry Allie!!!

    This is awesome- that you took the time to share this. I’m so glad they have a diagnosis and I pray more awareness is made so that parents everywhere (and doctors) understand this genetic mutation.

  2. I’m so sorry that you all got it. Horrible! It’s so rampant this year. I just wish March would come so flu season could end. Not that we’re safe from other things, but safer!
    So glad you raised awareness too!

    1. Thanks Tamara! And yes, I am so ready for spring. It can’t get here fast enough. And I feel guilty writing that, know what y’all are going through up there! I read somewhere you were thinking road trip? I think you should stay home and be safe…

  3. Did I actually miss this one? I’m sorry! We’ve been sick here too… Tucker had Fifths Disease then a fever and ickiness and then I had fever and ickiness and still have a sore throat! It seems to have lasted FOREVER. Are you feeling better? I hope??

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