About a week ago I changed the name of this blog (but not the URL) to Diagnosed and still okay. No one noticed. It could be like getting a haircut and dyed purple and your spouse saying, hey there is something different about you. Instead I chose to believe it doesn’t matter. Those who have been around here for a while come not because Bridget was undiagnosed but because they care about the journey.
Getting Bridget diagnosed with PACS1 was both a moment of woo hoo (an answer) and what the heck (no cure, very limited information). Yes, you found an answer…we still do not know what it means. This is why I struggled for a while in changing the name. I didn’t want to believe we found an answer. I am always waiting for that other door to close. That gotcha moment when we are told, but wait there’s more.
Which is why I waited, until now to believe. To take another leap of faith and change the “official” name of this blog (again, not the URL we are right where you left us). What changed? The support I have received from the PACS1 community. We are only 20 parents strong, but with awareness our group will grow.
Why is awareness of PACS1 needed?
When your child has a genetic syndrome the doctor looks at your child, reviews their (and your) medical history. They go as far back as you can recall. The doctor then takes that information and based on their knowledge decide what syndrome most likely fits. At least this has been my experience. Bridget had multiple genetic tests her first few years of life. She was enrolled into numerous studies as the genetic tests came back not this syndrome but detected an unknown abnormality.
It was significant but unknown.
Without the Exome sequencing, we may never have known. With Exome sequencing (again, my knowledge not a doctor, forgive me if I get something wrong) instead of looking for a syndrome, the computer breaks down the DNA and finds the malformed gene.
In Bridget’s case this was the PACS1 gene. She was the 20th child in the world discovered. In the world. She had a better chance of being struck by lightening. Quick fact 1 in every 3,000 people can be struck by lightening in their lifetime (in the US) versus 20 of 7.125 billion people in the world having PACS1. (Don’t you love Google?)
Had her doctor known about PACS1 he probably would have tested her for the malformation. Based on the other children we have found, she looks like they could be her siblings. But he didn’t know so he didn’t do the test.
Exome sequencing is not available to everyone. Had I not blogged, had a reader sent me an e-mail with a name of a physician it would (potentially) been years before Bridget was given the testing. It took a leap of faith to go to Georgia and pay out of pocket to an unknown physician to order the test. Which our insurance company paid for, no questions asked. Which begs the question why isn’t this testing offered?
The parents of children with PACS1 are trying to create that awareness. So that geneticists and doctors will be aware of this malformation and end another parent’s dismay at having a child undiagnosed. That PACS1 will be on their radar as a possible diagnosis. With the hope that eventually there will be a name for this syndrome.
On February 7th we will be hosting a virtual awareness day. It doesn’t cost anything to participate. You do not have to run, buy cookies or raise funds. We just want to allow families and physicians to hear about this malformation.