I spent half of my weekend solo parenting with Cassidy on a short trip, and the most unchallenging part of that was a Friday night pizza dinner with dear school friends and the most adorable and personable kitten I’ve ever seen. Honestly. Just look.
Saturday is when it got challenging(ish). Cassidy wasn’t due back until nighttime so I was parenting solo, and parenting with anxiety, which I suppose is always a factor but with the hot and crowded restaurant situations we got ourselves into, I was slightly concerned. It was only slight, though. Maybe it’s all the talking and exploring, or maybe it’s the appearance of more light at night, and just maybe, it was the Florida trip and how I survived the most crowded place on earth, but I was ok in the end. I do feel sturdier these days, and more up to challenges. I took the kids to a benefit ice cream for breakfast event.
On Sunday, Cassidy was back, but this time it was parenting while sick. You all know that’s no joke. And Scarlet had asked me out to breakfast to our resident sugar shack cafe in the woods, just the two of us. Then I had a birthday party. And parenting is hard enough and winter is hard enough and being sick is hard enough, and getting out of the shower or bath is hard enough.
Bridget is beautiful. Bridget is unique. Bridget does things her own way in her own time. Bridget is my blogging friend Kerri’s daughter, and she was recently diagnosed with the mutation PACS1. Bridget is one of TWENTY people in the WORLD with this mutation.The PACS1 parents are using Feb 7th to raise awareness so more children do not go undiagnosed like Bridget.
I started reading Kerri’s blog Undiagnosed But Okay about two years ago, before it more recently became Diagnosed And Still Okay. They used to call it “Bridgetitis” because there was no name attached to it, until they finally got an answer after months and months of waiting. Kerri’s family found a doctor in Georgia willing to perform Exome Sequencing, where they view the patient’s DNA strand by strand, and look for abnormalities with each one. After several years of being told a slew of diagnoses for Bridget, they found one answer. PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1 or PACS1.
1. PACS1 is not hereditary because they worried about Bridget’s sister, Abby, and the girls’ cousins.
2. PACS1 does not affect life expectancy.
From Kerri’s blog:
PACS1 does not really have “symptoms” rather there are a lot of commonalities in the children. For example:
– Widely spaced eyes and low-set ears
– Down-slanting eye corners and mild uni-brow
– Highly arched eyebrows and long eyelashes
– Round “button” nose with a flat bridge
– Wide mouth with down-turned corners
– Thin upper lip and widely spaced teeth
Other common traits that may be seen:
– Low muscle tone (“floppy baby”)
– Repetitive stimulation (similar to Autism Spectrum Disorders)
– Sensory over/under sensitivity (similar to Autism Spectrum Disorders)
– Motor planning difficulties (affects movement and coordination)
– Delayed physical and cognitive development
– Chewing and swallowing diffculties
– Digestion and/or bowel problems
– Slower growth resulting in lower height and weight
You can be aware. You can spread awareness. There is a Facebook page to “join” the event. It’s virtual, so you don’t have to leave your house. No donations are being asked for. PACS1 families are trying to get 5,000 people to join, so local hospitals will take notice. The link to the Facebook event is HERE. And look for beautiful Bridget in this video at the 40 second mark:
“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 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. 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.”