PACS1 Day So much has changed, yet…

February 7th was the day the first boys in the Netherlands were diagnosed with PACS1. A new, novel, never been seen before syndrome. A few years later, in 2014, after what felt like eons of searching for a Dr. House, Bridget would be diagnosed with PACS1. We thought it would change everything.

And it did, but it also changed nothing.

Getting the diagnosis was not the end of our journey, but our beginning. There was no magic wand, Bridget was not (and will never be cured). Being an ultra rare disease (less than 250 known cases), the parents are the most knowledgable. We have been lucky to have one parent spearhead clinical research, sadly without patient advocacy (or being pain in the asses) there is only so much money to fund research. Being small in numbers means without the community support, there would be no knowledge base.

The parents are the best resource, and I have been very lucky that the doctors on Bridget’s team (all 15 of them) listen to our anecdotal findings. When I go to an appointment and am able to say 20 of the parents have noticed X is going on within our population the doctors pay attention. But not all doctors do. This is why awareness is important. For a parent who is still looking for a diagnosis, to be able to tell their doctor it might be “this”. Or once a child is diagnosed, the parent can be put into contact with our support system.

Yet even in PACS1, we are finding there are now different variants (something new). Bridget has the Schuurs-Hoeijamakers variant. For our PACS1 family community, we are not the broad spectrum of PACS1, but our exact mutation. It is important to know the differences within the PACS1 mutations, as in our children’s population our variant is a clone within all the children. This is why they look like and we call them siblings. You can see how closely they all resemble one another in our annual collage.

This is why every February 7th the parents flood social media to create awareness of the PACS1 syndrome.

We never know where the next PACS1 sibling will be found. We also don’t want them lost in the journey. We want to give every parent searching for a diagnosis that PACS1 might not be their child’s syndrome. We want to encourage those navigating this medical mystery to never give up hope. With the leaps in science and testing, more families are able to discover why they are unique.

Getting diagnosed won’t be the end, just the next step in your unexpected life.

So much has changed for Bridget, yet each day, each year and now each decade contains so many PACS1 milestones and questions. We never stop asking, we just hope someday to have answers for the PACS1 family that is diagnosed after her.

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