Tag Archives: rare syndrome

PACS1 Day!

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.

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Rare, but together we are mighty

When your child is diagnosed with a rare syndrome, you are at first overjoyed: YAY! We know what “this” is! Then you are back to being overwhelmed: What do they mean they don’t know what “this” is! A parent who spent years searching continues on, looking for answers, looking for a cure and (most desperately) looking for someone who has been there before who can give you a road map.

I spent the first five years of Bridget’s life without a road map.  Not one doctor could tell me anything other than, we know something is wrong but we don’t know what it she has. Years of seeing doctors and specialists who would tell us that we are doing everything possible to make Bridget the best she could be, and to keep up the good work.

Then we were diagnosed with PACS1.

Journey over, right? Um how about it was just beginning. Continue reading