I am pretty sure if Isaiah and Bridget ever met, they would be amazing friends.
I’ve been watching Bridget grow up for a while now. I met her mom, Kerri, through my good friend, Kristi, because we were all moms of kids with Special Needs, and we all had the same sense of humor. That last part, that was the important part.
Because when you are the mom of a kid who isn’t “typical” sometimes, the only thing that can get you through the day, is a sense of humor. Or your friends sense of humor for that matter…
The thing about friendship is, it doesn’t matter if they live next door, or across the country. If you are true, then you are there. And when we found out this amazing news, that there was a reason that Bridget had a very special combination of challenges, and that reason had a name, my tears of happiness were real, and still are.
Sometimes an answer, a name, is all you really need. And then a new need arises. Now we have a name, what are we going to do about it?
I’m going to let Bridget’s mom, Kerri, tell you the story:
Bridget was recently diagnosed with PACS1 a very rare genetic mutation. She is one of 20 children IN THE WORLD with the mutation. The PACS1 parents are using Feb 7th to raise awareness so more children do not go undiagnosed like Bridget.
There is a Facebook page to “join” the event. It’s a virtual thing, you don’t have to leave your house. No donations are being asked. The families are trying to get 5000 people to join so local hospitals will take notice.
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, researched 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.
I have followed Bridget through her mom’s blog UndiagnosedButOkay, through Facebook posts and through life. We have found a community among mom’s who won’t take “I Don’t Know” for an answer. It has been my great pleasure to watch the strength and dedication that Kerri has shown us all, and to watch it pay off. Bridget is amazing and awesome and oh so funny! with or without a diagnosis. But the truth is, the not knowing can tear a mom apart.
The parents of PACS1 kids aren’t looking for donations, they are looking for support. For the community to say “Hey doctors! Pay attention to this! If there are 20 kids with this, then there are probably 100 more. And if you don’t acknowledge this then think of all the mom’s who will be torn apart by the ‘not knowing'”Facebook Page. Just like it. Like it and show the medical community how many people care. Give the doctors out there a reason to pay attention, to watch for the symptoms, to run the tests.
And if you want to find out more. Head over to the PACS1 families website.
Thanks for taking the time to check this out!