Special Needs Parenting and Finding a New Diagnosis: PACS1

It was from the comfort of my home and in the quiet of my office, my son sleeping upstairs, that I texted my friend Kerri, while she rode in her car, late at night, driving from Massachusetts to Georgia. She’d told me earlier that month that they’d found a doctor willing to do further DNA testing on her daughter Bridget.

One of my first blogging friends, who had made me feel so much less alone in the first months of coming out “undiagnosed,” had mentioned that she’d found information and a doctor. I didn’t really get what that meant though, until picturing her on the road, Bridget sleeping in her carseat, and the mile markers passing by Kerri’s window.

I thought about her hope and her worry.

When we don’t know what’s “wrong” with our children, finding out what it may be holds relief, excitement, and trepidation. While surely knowing is comforting, it’s also not, because there are some things, like a child’s life expectancy, that we question wanting to know in the first place. We play out scenarios in our minds. The good. The not good.

And as the miles passed in the car for Kerri and her family, I went to sleep that night, and said a prayer for them. Not so much that they’d get answers, but that whatever they did find out would be okay. That Bridgetitis would not affect her days, if that makes sense.

Kerri and her husband waited for months and months, and finally got an answer. The doctor in Georgia performed Exome sequencing, where they view the DNA strand by strand, and look for abnormalities.

They found one.

After years of being told that Bridget has a slew of diagnoses, they finally heard the words that brought them relief.
1. It doesn’t affect life expectency and
2. There’s a genetic mutation called PACS1

PACS1 is rare, and there are only 20 children in the world who are known to be affected by it. But that doesn’t mean that the mutation is rare, necessarily. It just means that doctors don’t screen for it.

As Kerri says,

The reason Bridget (and others) have a hard time being diagnosed is that physicians are unaware the syndrome exists. What happens when you go to a geneticist is he/she will look at your child, review their history, family history and then test for 3-5 genes that “might” be causing the problem based on those three criteria. Bridget had multiple tests like this. Once the mutation was found they looked into the orphan disease registry and viola found the 19 other children. This is why it is so important. Most parents are unable to get the Exome sequencing performed. If we had gone through our hospital it would have to be approved by 5 scientific boards and then the insurance company. That would have added years to her journey. BUT if doctors are aware of the syndrome, they will test for PACS1 as part of their array.

I’m writing tonight to spread awareness for PACS1. For all special needs.

I’m writing tonight so that you – special needs mamas and pappas know that you’re not alone in your worries and your battles. To remind you that sometimes, there are answers, even when we’ve been told there are none, the way that Kerri has been.

You can help to support PACS1 awareness by joining their Facebook page (no donations are asked for) or by visiting their website.

It’s my belief that spreading awareness for one rare genetic mutation is also spreading awareness for all of our kids and for all of our differences. Because we all matter. We deserve to know and to know that if there’s treatment that can help, that we’re finding it.

For kids like Bridget. For all kids.