Monday, February 23, 2015

Hugs Scare Me

The world can be divided into two kinds of people: people who like hugs and people who don't.

If I hadn't been born with CP, maybe I would have fallen into that first group. But my fear all started years ago, when a single hug scarred me for life.

When I was younger, another girl went to hug me and she leaned into her hug just a little too much...I'm sure you can all see where this is going, but she ended up on top of me.

I cried.

Anyway, ever since then, when I see someone coming at me like this:

I panic a little.

Recently, one of my friends came to my room after a bad day and said, "I just need a hug."

Oh no. I can give advice, or you can sit on my bed and recount your day to me for as long as you need, and I will express sympathy for every little thing that went wrong, or I will pull out a bag of M&Ms and we can stuff our faces together. But hugs? Hugs scare me.

I've never been a graceful hugger. I still GIVE hugs if they're requested, or if another person initiates them, because it's the right thing to do. But I feel like I'm the most awkward hugger in the world, because the entire time I'm thinking to myself, "Please don't fall on me, please don't fall on me, PLEASE DON'T FALL ON ME" and I'm trying not to end up on the floor.

She picked up on my apprehension too, because we then proceeded to laugh at my awkward hugging...and then I explained about the little girl who ended up on top of me many years ago, and we laughed some more.


So if I ever see you in real life and you come at me for a hug and notice that an expression of vague panic crosses my face, I want you to know that it's not you....it's your hugs. Some people are afraid of heights, some people are afraid of spiders...and I'm afraid of hugs.

Saturday, February 7, 2015

PACS1 Awareness Day: For Bridget

Long before I stumbled across Kerri's blog, one of my favorite television shows was House, M.D. A scruffy, sarcastic, brilliant-minded doctor and his team work to discover the causes of their patients' mysterious medical conditions, and their first ten guesses are usually wrong. Invariably, though, they manage to correctly diagnose and treat their patients within the span of 45 minutes. All we have to do is sit back and watch.

But Housewith all of its fancy camera angles, witty one-liners, and carefully-practiced actorsdoesn't portray reality. I came to this realization when I found Kerri's blog, when my eyes fell on its title, stretched across my screen: Undiagnosed But Okay. As I read her story, I fell in love with Kerri and her family. We have never "met" in person, and yet Kerri is one of the most incredible people I have ever encountered...read her blog and see for yourself! :)

Bridget rocking her princess crown :) (used with permission)
Kerri's little girl, Bridget, has a variety of medical issues (as well as an amazing spirit, a beautiful smile, a crazy amount of tenacity, and gorgeous red curls!), and for the first four years of her life, she was undiagnosed. Her story isn't mine to tell (and I could never do it justice), but Bridget's family continued to search for answers, refusing to wait for "science to catch up." And then, this past summer, something amazing happened: Bridget was diagnosed with a rare genetic mutation called PACS1 syndrome.

PACS-what? you might say. I hadn't heard of it either, and the trouble is, neither have most doctors! In fact, it's so rare that Bridget is one of only 20 children in the world who have been diagnosed with PACS1. Kerri took her daughter to a private doctor, and exome sequencing was done, which revealed this genetic mutation. However, as Kerri has written on her blog, due to insurance and approval issues, the majority of parents cannot obtain exome sequencing for their children. This means that they cannot receive the answers that they so desperately need, that their children will continue to be undiagnosed for years and years...all because of a lack of awareness.

I am asking you, my readers, to please take a few moments to spread awareness of PACS1; every little bit helps! Share this post...share Kerri's post...share Ruchira's post...visit the PACS1 website...or "like" the PACS1 Facebook page. Our hope is that as PACS1 awareness spreads, more families will have access to the testing that their children require, and that parents will refuse to accept "I don't know" as a diagnosis. These children and their families deserve answers...surely there are more individuals with PACS1 who have simply been labeled as "medical mysteries," whose parents lie awake at night wondering about their children's futures. Maybe your "share" will be the one that leads another family like Bridget's to the answers that they need. Maybe your "share" is the answer to their prayers, the missing link that they have been searching for.


You might be just one click away from showing yet another family that they are not alone.