PACS1

In the fall of 2014 we found out the answer to Bridgetitis.

PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1 or more commonly known as PACS1.

PACS1 is NOT hereditary. This was one of our biggest fears when getting the news. We were so worried that Abby (or her cousins) would have to struggle with the news should they ever have children. In Abby’s case we do not have to worry until she is 30 and allowed to date. But still it was a concern.

PACS1 is very rare. It was discovered in two boys in 2012. Since the research was published there have been a total of 20 cases world-wide. Bridget continues to be unique.

PACS1 is only detected by DNA testing. Bridget had EXOME sequencing done in the summer of 2014. If you have a child who is a medical mystery, I highly recommend finding a physician who will explore all options. Including EXOME testing.

PACS1 does not really have “symptoms” rather there are a lot of commonalities in the children. For example:

– Widely spaced eyes and low-set ears
– Down-slanting eye corners and mild uni-brow
– Highly arched eyebrows and long eyelashes
– Round “button” nose with a flat bridge
– Wide mouth with down-turned corners
– Thin upper lip and widely spaced teeth

Other common traits that may be seen:
– Low muscle tone (“floppy baby”)
– Repetitive stimulation (similar to Autism Spectrum Disorders)
– Sensory over/under sensitivity (similar to Autism Spectrum Disorders)
– Motor planning difficulties (affects movement and coordination)
– Delayed physical and cognitive development
– Chewing and swallowing diffculties
– Digestion and/or bowel problems
– Slower growth resulting in lower height and weight
– Near-sightedness

PACS1 has no cure. With therapy (a lot of therapy) children can break whatever limitations placed on their potential. We were told that Bridget would never do more than sit in a corner. She has come so far, much farther than that doctor I still want to punch in the nose ever expected.

You can find out more about the PACS1 Syndrome on this public Facebook page.

I am not a physician, a nurse or heck anyone with medical training. I am just a mom on a journey with her daughter hoping to give her the best life possible.

Please contact me at firebailey@gmail.com if you have any questions about PACS1 or about finding an answer to your child’s mystery.

6 thoughts on “PACS1

  1. Pingback: Sisters | Undiagnosed but okay

  2. Pingback: The Bucket List | Undiagnosed but okay

  3. Pingback: loving the person, not the behavior | that cynking feeling

  4. Pingback: Blind date | (Un)Diagnosed and still okay

  5. Pingback: What Not To Say to a Special Needs Mom | RealityMoms.Rocks

  6. Pingback: Never doubt the power of parents | (Un)Diagnosed and still okay

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s