When I started this blog in the summer of 2012 I began a journey of discovery. I did not know one person who was in our situation. Where you left the hospital with a brand new baby and were told they had something wrong but they did not know what it was or what it would mean for the future. It took four years of feeling alone before I discovered the world of blogging. Then I met Kristi, another mom in a similar situation.
It would take another two years of blogging before a kind reader would lead us in the direction of a diagnosis. We were told that Bridget had a rare syndrome, that she was the only third child discovered and the first female. Thankfully the power of social media is faster than medical research. Our family was welcomed into the PACS1 family and a brand new journey emerged.
We were not one of 3, but 12 and in faster than I could blink we are one of 32 families who have a child diagnosed with a super rare genetic syndrome. The families are more knowledgeable than the doctors at this point and have made it their unofficial mission to help new families through this journey. At the rate new families have been diagnosed, we know there are an untold number of children who are undiagnosed, just like Bridget’s journey. We have worked tirelessly to be advocates and promote awareness of PACS1.
This month, one of our dedicated parents arranged to have Schuurs-Hoeijmakers PACS1 Syndrome recognized by the National Organization of Rare Disorders (NORD). This means we can now raise funds to generate PACS1 specific research. While I personally like us being PACS1, the official name does make us sound like an official syndrome and not an Atari game.
This post isn’t about donating money to NORD (though that would be super cool). This post is to remind every parent out there that struggles with their child’s syndrome (known or unknown) not to give up. Find your village. Keep shouting from the roof tops until your voices are heard.
Parents are the number one reason why children succeed. Parents with a mission, there is nothing they cannot accomplish.