So how do I even know about this gene mutation? An awesome mom, advocate, friend, and blogger at Diagnosed And Still Ok (formerly Undiagnosed But Ok) has a most adorable daughter who was recently, and finally, given this diagnosis.
Here is her story, in her words:
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.
PACS1 Awareness Day is tomorrow, Feb 7. You can meet other families raising children with this rare diagnosis on the Facebook page, and get more information via this website.