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GRIN2B and Gratitude

By Liz Marfia-Ash, Parent and Founder of GRIN2B Foundation

Recently, about twenty people from our GRIN2B parent community participated in a webinar hosted by Simon’s VIP Connect (a research initiative studying many different genetic changes associated with developmental delay and Autism). During this webinar, we listened as a doctor from Simon’s VIP presented a summary of the data on the families who have signed up for their GRIN2B registry. For me, this experience was simultaneously HEARTWARMING, ENCOURAGING, FRUSTRATING and MIRACULOUS.

HEARTWARMING to hear each parent introduce themselves. We have bonded pretty intensely in our private Facebook group by sharing all the highs and lows of dealing with this mysterious rare condition, and we have become a little family; a family that is spread all over the world. To finally hear the voices of other parents on this same journey and to participate in this group event was surreal.

ENCOURAGING because this is just the beginning. We will have more webinars. Our numbers will increase. More research will be done. But we, the parents, have to push for this. We have to be proactive and drive the research. Though only about twenty families have completed the registration process through Simon’s VIP, I, along with the rest of the GRIN2B Foundation board members, will continue to encourage more families to register. Is the registration process time-consuming? Yes. But it’s so important. The data collected in our GRIN2B registry will be available to any interested researcher. And you receive Amazon gift cards for completing the registration process. My kid is getting an extra sweet Christmas present this year thanks to these gift cards.

FRUSTRATING because I know we want answers, we want treatments, we want to understand how our kids’ brains work and what interventions we can use to best help them. I can’t speak for every parent, but I know I am hungry for information on how to best help my daughter. Unfortunately, there is not enough data available to provide us with concrete answers right now. With this being our first webinar, the data presented was pretty basic for those that are not new to this diagnosis. You guys, I get it, this SUCKS. I have had days (a lot lately) where I can’t decide if I’d rather put my fist through a wall, drink several glasses of wine or stay up all night researching GRIN2B and how we can best move forward. I have this weird dual personality where, on the one hand, I hate that every doctor appointment I go to feels somewhat pointless. All anyone can do is guess as to what is going on, and I leave each appointment with half a dozen things to research. But on the other hand, I get it. Doctors and researchers aren’t magical, all-knowing miracle workers. GRIN2B is in its infancy of being studied, diagnosed and understood. I do believe that most of our doctors are doing their best to help us, but, in the end, it’s not their kid, and they don’t have the sense of urgency we have. It’s hard and unbelievably unfair.

  MIRACULOUS because we have come SO FAR, YOU GUYS. Seriously. Fellow GRIN2B parents, do not lose hope. Well, actually, I take that back. It’s okay. Lose hope, but just do it for a day or a week. And then keep going. Three years ago, on the day after Thanksgiving, my husband and I sat in our Geneticist’s office and received the news of the GRIN2B diagnosis. We were told there were only about ten others with this mutation. There was no support group, no Foundation, no website, no blog posts, not even a lousy pamphlet to read. I knew nothing back then about just how rare a disorder could actually be and that day changed everything.

Look at where we are. Look at where we started. – Hamilton

As one of the Admins of our Private Parent Group on Facebook, I can tell you that more families are joining every week, which means more individuals are being diagnosed. Our numbers are growing. I totally respect that not everyone is comfortable with participating in Research. BUT BUT BUT we cannot expect or hope for change or answers by doing nothing and waiting. It was pointed out during the webinar that the gene that causes Cystic Fibrosis was first discovered in 1989. The first FDA approved treatment, addressing the underlying cause of CF, was not until 2012. Let’s do the math. That’s after 23 years of research. Science is definitely moving faster than it was in 1989, but, we cannot sit on our butts and do NOTHING. I’m saying (well, really writing) all of this in my most stern, but affectionate “Mom” voice. We have a LOT of work to do.

I know this is not easy, and the road ahead can seem bleak at times. I KNOW you’re all exhausted and worried because I am too. I have never been one of those happy-go-lucky people who looks on the bright side. I’m a worrier at heart, and I have had to re-train my brain to focus on the positives since the diagnosis.

As we’re wrapping up Thanksgiving weekend here in America, let’s reflect on what we have to be thankful for:

  • A growing community of GRIN2B families from all over the world, committed to supporting each other. Just three days after receiving my daughter’s diagnosis in 2014, I found my first fellow GRIN2B mom, Donna Dunn, through another special needs Facebook group, and I was the first person to join her in the private GRIN2B parent group she had created. Now, three years later, we have over 100 families in our group.
  • We will soon be raising $$$ for GRIN2B research, support and education for families. We are still waiting to receive our official 501c3 non-profit status, but look for ways to donate/get involved in 2018.
  • We are tentatively planning a GRIN2B family conference (with medical speakers) for Fall 2018. We’ll share more details early next year.
  • Our first GRIN2B Awareness month in March!

As our Board of Directors and our community of GRIN2B families looks to the future, we need to remain patient and organized. It’s easy for me to sit here and type these nice, inspiring words, but I totally get that in our day-to-day lives, it is hard to remain patient. On those days my daughter is struggling, and I am spinning around in circles trying to find solutions, I admit I sometimes want to quit. I pull my hair out and curse GRIN2B and all these damn unknowns. But then I keep going, because really, what is the alternative? Our Foundation is getting off to an admittedly slow start, but that’s life. If you have any suggestions for ways to improve the website, the organization of our group or have any leads on fundraising or research, we welcome your ideas. Feel free to email myself or any board member at info@grin2b.com or message me through Facebook.

To my fellow GRIN2B parents, I have not been very active lately within our Parent Support group due to my even-more-crazier-than-usual life, but please know that I am grateful for each and every one of you. Now, enjoy what’s left of your holiday weekend, get some rest, eat all of the leftovers and get ready to kick some GRIN2B butt in the years to come.


P.S.

  1. PLEASE, PLEASE, PLEASE join our GRIN2B registry at Simon’s VIP Connect. It’s so important that we get more data for our registry to share with Researchers. If you’re still not sure what the heck Simon’s VIP Connect is and how it relates to GRIN2B, click here.
  2. Did you miss the webinar? Like our Facebook page and keep watching for updates. As soon as the recording is available, we will share it there.
  3. Sorry for so much all caps in this post! I generally do not approve of excessive use of capitalization, but man oh man, this post really called for it.

Accepting Our New Normal

By Liz Marfia-Ash, Parent & Founder of GRIN2B Family Support

People often ask us if my daughter, Lucy, is going to be able to do certain things. We always appreciate when people ask questions because sometimes I get the feeling people are scared to talk to us. But we don’t want anyone to feel bad or sad when our answer is generally some version of, “maybe, but we don’t know.” The truth is, no one can really tell us for sure when or if she will be able to do certain things. I can attempt to guess based on some of the families I’ve connected with online who have older children, but my guesses are not by any means set in stone. And while there are certainly days where we’re frustrated or worried or sad about what we don’t know or what we’re trying to help her achieve; most of the time, we are pretty accepting of the unknowns. They are our “new normal.”  

But we didn’t always feel this way. We were pretty apprehensive about all those unknowns after our daughter received her genetic diagnosis (a mutation on her GRIN2B gene) just over two years ago.

Since then, I have spent A LOT of time reading countless blogs and websites and articles and books and meeting wonderful people with differing life experiences, and all of those interactions have led me to some pretty life-altering realizations.  

If Lucy is someday able to mainstream into a regular education classroom, great. We’ll love her and be super proud of all she’s accomplished.

If she stays in a special education setting for the duration of her school years, great. We’ll take comfort that she’s in the safest possible environment, and we’ll love her and be super proud of all she’s accomplished.

If we get to hear her voice one day, we’ll cry and rejoice and delight in whatever conversations she’s capable of having.  

If she remains non-verbal, that won’t change anything. We’ll continue pushing forward with sign language and working on her communication device. Communication comes in many forms. The voice is just one of them. And Lucy has already proven, based on actions, that she has strong opinions and wants to communicate with us. It is our job to provide her with as many forms of alternative communication as we can.

If Lucy is able to live on her own one day or live amongst a community of adults with developmental differences, great. We’ll love her and be super proud that she’s spreading her wings.

If she lives with us into adulthood, also great. We’ll love her and we’ll be super excited to have a good buddy to keep us company in our old age.

My daughter was not put on this earth to make us feel sad or grieve what could have been. She is not here for us to “fix” or conform to some standards of “norm.” “Normal is a setting on a washing machine.” – Christopher Barzak

She was also not put on this earth to inspire us. Lucy has inspired us and those around her to believe in endless possibilities, but that is not her sole purpose.  

I believe there must be a happy medium where we will do what we can to give her the tools and encouragement to be whatever she’s meant to be AND also teach society that disability is beautiful and not a mistake and has been a normal part of human existence since the beginning of time.

I don’t know exactly what her future looks like, but I do know this:  I will NOT let my daughter’s worth be defined by society’s measure of her intelligence. Her success will not be defined by whether or not she can “catch up.”

My Lucy will be no more or no less than what she is meant to be. A delightfully curious, giggly girl, a daughter, a sister, a cousin, a niece, a granddaughter, a friend. A human being who’s “practically perfect in every way.”


CAVEAT 

Though the tone of this piece is one of acceptance and positivity, it is not meant to assume that our life is now easy-breezy and carefree (but really, whose life is?). Because Lucy’s disability is somewhat invisible, we regularly deal with tricky situations that most people may not be aware of. Since my daughter cannot currently give permission for me to write about her, I feel an immense responsibility to portray her in a respectful way and keep some of the harder stuff private. In all honesty, there will always be things that will be challenging for our family. As Lucy gets older, and the differences become more obvious, I fear the challenges will increase. My hope is we will always try to combat each obstacle with as much grace and positivity as we can muster.