Today is PACS1 Awareness Day
What is PACS1? The Scientific definition is: is a rare neuro-genetic disorder caused by a mutation (c.607C>T) of the PACS1 Gene. The mutation causes gastric issues, intellectual disability, speech impairment and other health concerns. PACS1 is frequently misreported, even in medical journals. In July 2020 a researcher published a study that stated there are 35 known PACS1 children in the world.
This is why PACS1 Awareness is so important. In reality back in July 2020 there were 150 families connected through a PACS1 support group. As of today, Feb 7, 2021, there are over 165 families to celebrate PACS1 Awareness Day.
There are PACS1 families all over the world. As we say to new families: Have a question ask it at any moment of your day because there is always someone awake to answer it.
And answer it we have. From potty training to behavior to crooked butt cracks. The PACS1 families have more answers than the best trained doctors in the world. Frequently I will mention to one of Bridget’s doctors that the families have noticed a trend (recently a possible regression of gross motor skills as the child ages). Instead of telling me not to worry, the doctor acknowledged that the parent group knows more than the journals so let’s keep a close surveillance and if we notice a plateau we will be ready to act.
This is why PACS1 Awareness is so important. We need doctors and medical teams to think “let’s test for PACS1” when they are presented with a PACS1 child. We are getting closer, genetic testing now “picks up” the PACS1 mutation when performing genetic testing. Yet the doctors are not able to inform the newly diagnosed parent with valuable information. I remember being told that the only PACS1 children were boys and there were only two in the world. It took me only a few days to find out that there were 12 other children and three other girls. I was told that all PACS1 children had seizures. The “all” makes me chuckle now. They thought there were only two in the world. How much more did they not know? I was given a lot of misinformation in a very short time span. Thankfully by emailing one of the PACS1 moms (the very first PACS1 mom), I was put in connection with the family group. Had I not been able to find Frederique’s information I would still be here, overwhelmed and thinking I was alone in the world.
Instead I have created a family within the PACS1 family. I have connections and a knowledge base to draw on.
Here is what I wish they would say instead: Yes, your child has PACS1. Here is a parent group that knows more than what is available to me in medical journals.
It is why we created PACS1 Smiles, to create awareness and provide support for PACS1 families. A lot of our plans have been put on hold due to the pandemic, but what has not been put on hold is our support for one another. From holding our breath when one of our PACS1 children underwent heart surgery to jumping for joy when one PACS1 child walked for the first time.
Happy PACS1 Day to all the families out there, both known and still on their journey to find our PACS1 families.
If you would like to donate to PACS1 Smiles, Inc. your tax-deductible donation will be used to create awareness so others can find their village. You can donate via this link or at:
PO Box 38
Sandwich, MA 02563