I love being a member of the PACS1 family. Our small group has grown from 14 families to over 40. Our most recent adoptee asked a reasonable question: “all these young children…I am wondering why it took so long to diagnose X”. This mother has searched for over 13 years for an answer to what made her son unique.
Why does it take so long?
Why do so many families struggle and wonder and fear and remain undiagnosed? I remember being so frustrated and scared and we were diagnosed with PACS1 when Bridget was 5 years old. Imagine, for a moment, your child being a teen or in their 20’s before you were told why they fought so hard.
And when you finally get an answer, the doctor gives you misinformation. You are told your child is one of 2 or 4 not 40.
February 7th is PACS1 day. This day was arbitrarily chosen as it was the date of Siebe diagnosis. Siebe was the first child diagnosed with the malformation. Here’s the sad part of the story. After finding the mutation, the doctors stopped the research and the advocacy. When Bridget was diagnosed, three years after Siebe, I was told she was the first girl and the third child in the world.
The research was incorrect. She was the 14th child. Without the power of Facebook I would never have met her PACS1 siblings. Bridget wasn’t the first girl or the first child in the USA diagnosed (as we were told) this beautiful fashionista, Jasey, has that distinction.
The doctors found the PACS1 mutation and stopped their investigation. The PACS1 family? Not so much. We are the voice of our children. We are the advocates, contacting any researcher, doctor, student or anyone who will help figure out where PACS1 begins and ends. For years the doctors thought PACS1 was related to seizures. The parents have proven that wrong.
The PACS1 parents are the safe place to land for the newly diagnosed. We welcome every new parent with a “Welcome to the Family” and encourage them to understand that no question will be answered with judgement. We share what we know works, where we felft we may have misstepped and acknowledge what we don’t know.
Here is what we do know:
- PACS1 is a genetic mutation that occurs when the zygote becomes a fetus, there is no cure or anyway to prevent the mutation.
- PACS1 children have a varying array of intellectual disabilty
- PACS1 children have dysmorphic features, hence the sibling comments you will see on our social media posts
- PACS1 children need PT, SPT, OT and SPED to thrive
- PACS1 children tend to be the best huggers, affectionate and possess cute button noses
- PACS1 children will only be identifed with Exome (or similar) screening
- PACS1 children have unknown potential
- PACS1 children have parents who will be there for newly diagnosed families
Here, right here, is way advocacy is important. The Doctors may have stopped at identifiy the mutation. The parents are still working to provide a bridge to the parent who has no freaking idea what PACS1 means. The parent that feels alone and has been given misinformation about the PACS1 mutation.
The only way to encourage families who are undiagnosed is to make sure they advocate for their child to undergo Exome testing. Something hospitals and insurance companies resist paying for the testing. We had to drive to GA and pay out of pocket to obtain the results. It breaks my heart that a parent will not get this testing until their child is in their late-teeens early twenties.
If you know a parent who has been told by the doctors that something is wrong but they don’t know what that means. If you know a family who is struggleing to find a diagnosis, encourage them to adovacte for Exome testing. If they need direction, give them my contact info (firstname.lastname@example.org). This testing is essential to having your friend understand they are not alone.
Because being alone sucks. Being a part of a family does not.
If you know a parent who is struggling to find the answer to what makes their child unique, encourage them to have Exome sequencing. They may not have PACS1 but they might find the beginning of a new journey.