How GRIN2B Foundation Came 2B

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

This past March was a meaningful month for our organization. We celebrated our very first #GRIN2BAwareness month. March was also the first month we were officially approved to receive donations, helping us further our mission of providing support and education to our community and, in time, furthering research on the GRIN2B gene.

We’ve had a huge influx of newly diagnosed parents join our Parent Support group on Facebook over the past year. Now that we’ve completed our first GRIN2B Awareness month, it seems like a good time to share the background on how our organization came together.

Back in November 2015, my daughter, Lucy, was almost 2 ½, and we were about a year into the GRIN2B diagnosis. We had connected with other GRIN2B families on Facebook, but it was probably less than 25 worldwide. None of the families were remotely near us geographically, and my husband and I assumed we’d likely never meet another GRIN2B family in person.

That Fall, we took Lucy to an appointment with her Neurologist at Ann & Robert H. Lurie Children’s Hospital of Chicago. As we were discussing my daughter’s symptoms, the doctor casually referenced another patient he had with a GRIN2B diagnosis. My husband and I were stunned. There was a family dealing with this diagnosis in the same state as us and seeing the same doctor? Obviously, our doctor couldn’t betray confidentiality and give us their info. Based on what little our doctor told us, I was not sure if this family was going to be joining our Facebook group soon. [No judgment here in case that family ever reads this. Every family has their own personal reasons for either wanting to connect or not wanting to connect.]

On our way home, I remember feeling confused. I had been naively assuming every diagnosed family would join our Facebook group, but what if they didn’t? And what if there were more families that weren’t on Facebook and would never find our group?

During that car ride home, I made a reluctant decision. Up to that point, we had only shared the name of Lucy’s diagnosis to close family and friends through email. On Facebook, we kept it purposefully vague; only saying she had received a “rare genetic diagnosis.” But at that moment I knew our Facebook group was limited, and if I wanted to find more families, I would have to write publicly about her diagnosis. I had just written a piece for the website, The Mighty, about being a special needs Mom so I knew that was the right forum to contribute another piece.

I am generally a private person so this was not a step I took lightly. I spoke with my husband at length about the ramifications of what I was considering. As I mulled over what to write for The Mighty about Lucy’s GRIN2B diagnosis in the weeks after this appointment, I came up with the idea to collect all the information that had been shared in the support group and build a website. I realized more families could be found if there was a website that came up after googling “GRIN2B.” With input from the families in the Facebook group, I began compiling information. Over the next year, I created www.grin2b.com, with the help of my sister and brother’s respective Graphic and Web design skills.

But, though I created the website and then, later, the Foundation, it is important to note that another Mom actually created the GRIN2B Parent Support Group.

Rewind to April 2014. A family in Alabama had just learned of their son’s GRIN2B diagnosis. Shortly after, Donna Dunn (our Vice-President) formed a private GRIN2B support group on Facebook. She was the sole member of that group until November 2014, when my daughter was diagnosed the day after Thanksgiving, and I posted about her diagnosis in a different online forum. Donna saw my post and responded, and I became the 2nd member of that GRIN2B support group.

This is Donna’s story in her own words:

We had given up finding a name or a diagnosis or whatever that was causing my sweet baby boy to miss milestones, not talk or sit or walk. My husband and I thought, we’re doing the best we can do, we’re doing any therapy we know of and we’re ok without a diagnosis. Then, I received a call on a Friday afternoon from a genetic counselor in North Carolina. She stated meekly over the phone that they have found something on some panel and it’s a GRIN2B mutation. She then proceeds to say that they do not have any cases that they know of in their lab, but there are some studies from Germany. From what they can tell, she continues, this mutation causes severe cognitive and physical delays. I couldn’t believe what she was saying; my heart fell into my stomach. I couldn’t breathe. In one sentence, this person tried to take away my hope for my child and for my family. Needless to say, I was devastated. I knew Charlie was profoundly impacted by whatever process was going on, but I couldn’t accept there was no hope for the future. So I went home and my husband and I just spent the weekend loving on Charlie, discussing the findings and just being sad. Towards the end of the weekend, we finally realized, this wasn’t the end…it was just a bend in the road. This was our new normal, and we were sure others had experience with this. So we began searching. We found a few families through articles. We also searched social media. I could not find one group for GRIN2B, so in July 2014, I started the group that is now known as GRIN2B Parent Support. I was the sole member until December 2014 and then Liz Marfia-Ash joined. I could not contain my excitement to finally have another parent to discuss issues with concerning GRIN2B. Shortly after that, Charlotte Conrad Johnson joined, and the group has grown considerably since. We now have over 200 members in the GRIN2B parent support group. I’m truly excited about the parent support group, the connections and support it’s created for families all over the world.

-Donna Campbell Dunn, GRIN2B Foundation Vice President

In the Fall of 2016, with the website nearing completion, I realized there was a greater chance of the medical community paying more attention to GRIN2B if we were formally organized. The idea of starting a nonprofit was incredibly daunting, but I was fortunate to be friends with a family whose son had FOXG1 Syndrome. Through that family, I connected with the people at The International FOXG1 Foundation and received invaluable guidance on how to go from parent to nonprofit leader.

First thing I needed was a Board of Directors. Besides myself and my husband, I thought it made the most sense to start with some of the first American parents who joined the Facebook group. Donna Dunn was my obvious first choice since she had started the Facebook group, and she was the first GRIN2B Mom I ever connected with. I was thrilled when she said yes right away. After that, I reached out to the second GRIN2B mom I had found several weeks after connecting with Donna, Charlotte Johnson. I had found Charlotte in a Facebook group about Hypotonia by searching through old posts for “GRIN2B.” For about a month, Charlotte, Donna and I were the only members of the GRIN2B Parent Support Group. The third Mom I reached out to was Carole Quennessen, another of the earliest American Moms to join the Facebook group. Both Charlotte and Carole eagerly agreed to join the Board. It was several months later when Brittaney Crider came onboard. Brittaney had reached out to me immediately after her daughter was diagnosed as she had read my article on The Mighty and was elated to connect with other families.

Since forming our board in 2017, we spent the better part of a year just filling out all the required paperwork to register GRIN2B Foundation as a charitable organization both in our Incorporated state of Illinois and with the United States government (to be honest, I also had a baby during this time, which understandably slowed us down a bit). Our Board members have all donated countless hours filling out paperwork, researching, sending emails, making phone calls and having late night video-conference board meetings in order to lay the groundwork for effectively running this organization. This is not a job that I or any of the Board Members take lightly. We have a LOT to learn, but we are fortunate to be connected to many other organizations that have advised us and will continue to advise us along the way.

Several people from other rare disease nonprofits have wisely advised us to remember that “it’s a marathon, not a sprint.” We are all very eager to jump in and start fulfilling our mission, but we are also trying to take the time to set this organization up correctly and not get too ahead of ourselves. I am truly honored to be working alongside a group of people that are dedicated to not only bettering the lives of their own GRIN2B children, but all individuals affected by a GRIN2B change. When we are meeting and making our plans, we are always thinking, first and foremost, about the most effective ways to serve our entire community. All of GRIN2B Foundation’s board members possess an abundance of intellect, integrity, common sense and determination.

In addition to our work during the Awareness month, our Board of Directors have been busy recruiting Medical professionals for our newly established Medical Advisory Board, contacting various individuals and organizations worldwide that are presently studying GRIN2B to begin to understand how we can work together, planning a GRIN2B Foundation Family Conference in Atlanta this September and numerous other special projects. It’s kind of a lot for a group that is entirely run by parent volunteers.

To our GRIN2B families, we look forward to serving you and hope to meet many of you at our Conference in September. Many of you have asked how you can help. We are working on plans to create several committees to help us fulfill our mission and will be posting information on ways you can be involved in the coming months. We thank you in advance for your patience as we put our internal structure into place.

Please email us at info@grin2b.com if you have any questions.

We will be adding bios of our board members to our website soon, as well as posting the names and bios of our Medical Advisory Board. Stay tuned!

March 31, 2018

Celebrating Rare: The GRIN2B Podcast, Episode 1

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Treasurer of the GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. It took until the very last day of GRIN2B Awareness Month, but, as promised, here is the first episode of our very own podcast, Celebrating Rare: The GRIN2B Podcast. When The GRIN2B Foundation started planning our #Grin2bAwareness month, I thought this would be a small way I could contribute to the cause. I am a radio and television teacher, and using media to connect and inform GRIN2B families sounded like a good idea. I hope you enjoy the listen, and understand that we will get better as we go along. This first one will hopefully be unique, in that it only features my voice. Over time, I hope to bring in other GRIN2B family members as guests so they can add their voices to each episode and share their own personal journeys with GRIN2B.

Even though I have done live radio countless times, this was the first time I have produced a podcast, and I was a little unprepared for the process. In live radio, you open your mouth, say stuff, read off of a page, and hope for the best. Most errors are understandable, as no live production is ever perfect. Human error is always a presence. Podcasts are different in that they are recorded beforehand. Despite this, I still treated the production process as if it were a live situation, and, consequently, there are some mistakes I want to point out for you all. First, I refer to GRIN2B as a protein we all have, when in fact, GRIN2B is a gene that encodes our proteins. I also state that GRIN2B affects our NMDA receptors, but I continually refer to this by an incorrect abbreviation, calling them NDMA receptors. Did I mention we’ll get better at this? In spite of these obvious mistakes and a few others, I hope you’ll enjoy the podcast and the spirit in which it was intended: to connect and inform listeners. If you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com, or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

To further protect myself from any unintended mistakes, each episode will have the following written disclaimer when you click on the link:

PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer also applies to any guests or contributors to the podcast. Under no circumstances shall Phillip Ash, The GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of The GRIN2B Foundation be responsible for damages arising from use of the podcast.

November 26, 2017

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.

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.
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.
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.

April 16, 2017

Accepting Our New Normal

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

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.