By Liz Marfia-Ash, President and Founder of GRIN2B Foundation
The holidays are hard. I can look around my house and feel joy from seeing our pretty decorations, but I’m left feeling mostly overwhelmed by all the hustle, bustle and pressure of the season, and this is the time of year where I become VERY acutely aware of how different our family is. I won’t pretend that the holidays are only hard on those of us raising children with disabilities. The holidays can trigger intense emotions in people for a large number of reasons. 
Despite that, I know many families raising children with GRIN2B or other rare diagnoses feel blue at Christmas. We can’t always participate in the same activities as anyone else or we can only do so with LOTS of careful, advance planning and accommodations. Or, we struggle to come up with ideas for gifts for our child. Perusing the toy aisles or flipping through the Target catalog is when I become painfully aware that my 6 year old is not able to play with the same toys as other 6 year olds. On a recent trip to Target, I scoured the many displays of Frozen 2 merchandise and snagged the few items that were appropriate for my daughter, Lucy. It wasn’t until I was on my way to my car that a thought occurred to me, “What if she doesn’t even like Frozen 2?” Lucy is nonverbal so she really can’t tell me if she likes it or not. We have been listening to the soundtrack ad nauseam, but it’s not always obvious which music she prefers. I seriously sat in my car for 5 minutes and had an existential crisis that I was forcing my love of Frozen 2 on her and maybe she’s the type of girl who hates princess stuff. This is the life I lead. Everything is a guessing game and it’s so hard to know what will make my girl happy. And I think that’s where the season gets me down. I want my daughter to experience the magic of the season as my other two children do AND be happy. I just want her to be happy. But it’s such a constant struggle to figure out how to make that happen.
Communication is one of our biggest hurdles. And though I am grateful we’ve come much further than we were a year ago, we still have a long way to go with her communication device.
Lucy had an especially hard night recently. She was upset and I had no idea why. My husband wasn’t home which meant we had to perform a familiar scenario: her older brother stayed with her to make sure she was safe while I rushed to get her some Tylenol in case she was in pain.
Usually I just stick to our routine and try to get through the night. But this night broke me, and I was left feeling numb and helpless. I have spent the last 5 years asking the same questions over and over and over – how can I help my daughter, what else can we be doing, what does this behavior mean, what is she upset about, what medication can we try, when will we have clinical trials????
Writing a blog was not on my to do list right now. But on this night, I started to compose the following letter to Santa in my head as I attempted to keep my sanity from spinning out of control.
Dear Santa,
All I want is some medicine I can give my child other than mother-$&!@&%$ Tylenol. Sorry, not sorry for the language, Santa. But I’m tired and angry and you wouldn’t like me when I’m angry.
Tired of my child shrieking and having NO idea why. Does she have a headache? Is she tired, hungry, was someone mean to her at school? Is something neurological going on? We give her Tylenol on a fairly regular basis as a last resort when we don’t know what else to do. Someone who totally meant well (but is not the parent of a child with a rare neurological disorder) once told us we should be careful about giving her too much Tylenol. Well, my response to that is about a 100 “shrug” emojis. It is what it is. You’d give your child Tylenol on a daily basis too if it eliminated their shrieking and stopped you from putting your fist through a wall in frustration. On recent call with one of our GRIN2B Clinicians, I asked her what else we could be doing for Lucy when she’s upset and we don’t know why. She suggested we try Tylenol and see if that helps ease her pain, or what we assume to be pain. Oh, right? Give her Tylenol often? Yep, already doing that. Our home is filled with chaos on a regular basis and I don’t really like to complain about it, but everyone’s perfect holiday social media posts are making me feel less than jolly right now. Like, where’s my Hallmark-channel-movie-magical-ending-that-fixes-all-my-problems?
You still reading, Santa? Too intense for you? Stick around…I got more to say.
Please send us any or all of the following:
-More people willing to help fund research on GRIN2B-Related Neurodevelopmental Disorder.
-More time in my day to help properly run the nonprofit I started, GRIN2B Foundation.
-Researchers to find medications that will treat my daughter’s symptoms.
-Patience by the boatload. (I’m running out.)
-More smiles for my daughter. (Pretty please.)
Xoxo,
Liz, a GRIN2B Mom
Unfortunately, this isn’t a Hallmark movie and my problems aren’t going to be magically solved by Christmas. Despite my somber, frustrated and snarky tone, there truly is reason for hope. Thankfully, I’m not alone. We’ve got oodles of Researchers, Clinicians, families and other nonprofit groups already hard at work on the items on my wish list. As frustrating as it is that science, medicine and funding cannot move quickly enough to help my daughter in the short term, in my heart I know I am doing all I can feasibly do for the cause. But, every now and then, these rough days come around and the voice in the back of my head tells me I should be doing more.
But I literally can’t do any more, so this is where I ask you all to roll up your sleeves and help share the load.
Wondering what can you do to help?
If you’re considering any year-end giving, please put GRIN2B Foundation on your list so we can continue our mission of supporting families, promoting awareness and funding much-needed research.
Donate here.
If you are a GRIN2B family, please participate in as many registries and research studies as you can. We have a long way to go to get to treatments and cures and we need all the patient data we can get.
Registries to participate in:
- GRIN2B Foundation contact registry: This is the most efficient way for you to ensure you’re receiving updates on all the registries, studies, future clinical trials, meet-ups, conferences and more! If we don’t know about your family, it’s hard for us to truly help you. This one should only take 5-10 minutes to complete.
- Both University of Colorado’s Registry on GRIN Variants AND…
- The Simons Searchlight GRIN2B database
What’s that you say? I have to enroll in two different patient registries? Grumble, grumble.
Okay, I know, I get it. I wish I didn’t have to ask you to enroll in both of these, but I’m asking anyway. Yes, in a perfect world, we would only ask you to enroll in one registry and we may get to that point someday. But for now, we work with what we’ve got. Both of these studies collect information that is a little bit different from each other, but it’s all a necessary part of the big picture. And these two organizations are currently working on a data sharing agreement that will allow them to share data between each other and get a full picture of the associated symptoms of GRIN2B and the other GRIN-related disorders.
In-person studies:
Dr. Caitlin Hudac’s EEG study (2019 GF Grant Awardee) 
This study will be enrolling 25 patients with a GRIN2B diagnosis. Enrollment information will be available very soon.
Board Member, Phil Ash, recently recorded a podcast with Dr. Hudac, discussing this upcoming study. We’ll be sharing that in the coming weeks.
Various other things you can do:
- Follow all our social media pages and share our posts to increase awareness. We’re on Facebook, Instagram and Twitter.
- Sign up for our Newsletter.
- Host a fundraiser for us in 2020.
- If you’re local to Chicago, consider signing up to be a Volunteer for our Family Weekend July 10-12th. Email us at info@grin2b.com.
- Shop our Awareness apparel and merchandise.
Thank you all for supporting us! Have a wonderful Holiday Season!
Xoxo,
Liz Marfia-Ash, GRIN2B Foundation President
P.S. (Written several days later, when I’ve had time to reflect.) As is typical in our household, after a couple of rough nights, Lucy had a few nights in a row where she was spectacularly happy. This past Saturday, was pretty blissfully normal. Took the kids to the dentist (no cavities!), Lucy had a great time at Aqua Therapy, my husband and I went Christmas shopping while the kids had a great time with one of their favorite babysitters, and we closed out the night having fun taking pictures in front of the Christmas tree with my new selfie stick. And so the circle continues…low lows followed by high highs and round and round we go. Thank goodness I can rely on Christmas candy and cookies to get me through the season.
And as I was in the middle of writing this post script, several other sad things not related to my daughter happened. While pondering all these ups and downs, I was struck by the following lyric in the song, Beautiful. I’ve listened to this song a million times and somehow never really paid attention to this specific part of the song.
“I have often asked myself the reason for sadness
In a world where tears are just a lullaby
If there’s any answer, maybe love can end the madness
Maybe not, oh, but we can only try”
-Beautiful by Carole King