Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. The COVID-19 Pandemic continued to affect our families and our Foundation in 2021. In spite of its restrictions, we were busy laying the groundwork for three very important initiatives that are all happening in 2022. It only made sense to close out 2021 by reflecting on the year that was, and previewing the exciting things that lay ahead. To that end, I brought on a very special guest for this episode…my wife! Though that’s how I know her, the rest of you all know her as Liz Marfia-Ash, GRIN2B Foundation Founder and President. Liz reflects on the year that was while also discussing our 2022 happenings! These include a clinical trial for patients with gain of function GRIN2B variants, the opening of the first GRI Center of Excellence in Denver, Colorado and previewing our first in-person family weekend since 2018. Note – this episode was filmed in the final days of 2021.
We are so excited to bring these programs to you in this new year, and we need your help and continued support to increase our funding and reach with scientists and researchers! The only way we can do that is for all of us to do the little things, like completing paperwork for GRIN2B patient registries or by hosting fundraisers or family meet ups. No matter how big or small, each of these programs make a difference for all of our families. I hope you enjoy this episode and that you and your family have a happy and healthy new year. As always, 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, GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of GRIN2B Foundation be responsible for damages arising from use of the podcast.
GRIN2B Foundation is pleased to announce an award of $45,000 to Emory University in its 2020 research grant initiative to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.
The recipient of GRIN2B Foundation’s 2020 research grant is Dr. Hongjie Yuan, Assistant Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA, and Deputy Director of the Center for Functional Evaluation of Rare Variants (CFERV) for his research project entitled:
“Rescue Pharmacology and Therapeutic Strategies to Treat Pediatric Neurological Disorders Associated with a Loss-of-function GRIN2B Variant.”
Dr. Yuan and his research team are evaluating the impact of one specific GRIN2B variant (classified as Loss of Function) on NMDA receptor function, synaptic activity and cognitive ability in a mouse model. They will also assess if the addition of substances (e.g. D-serine, D-cycloserine) to the mouse models will lessen the impact of the GRIN2B variant. If shown effective, some of the FDA-approved medications might warrant consideration in pediatric patients with GRIN2B variants. This project also includes the creation of a 2nd GRIN2B knock-in mouse line (classified as Gain of Function) to be studied in future projects.
Read more about Dr. Yuan, his project and our previously funded projects here.
Samuel Kwon, GRIN2B Foundation’s Science Director believes that, “The way that genetic variations in the GRIN2B gene disrupt the nervous system in the developing brain remains poorly understood. Animal models can provide important insight into this issue. Findings from this project will provide a strong framework for stratification of existing GRIN2B variants and potentially lead to discovery of promising drug candidates.”
The GRIN2B Foundation Board of Directors is encouraged by the increased volume of applications received in this 2020 Grant Program. Though we could regrettably choose only 1 project at this time, we are very motivated to continue funding future research grants.
This Grant program is only possible thanks to the efforts, integrity and guidance of the GF Board of Directors, GF Medical Advisory Board & Science Director and our extended network of Scientists and Clinicians who reviewed our pool of grant applications. We are so grateful to everyone for their time and effort spent helping us select this important project.
We would not be able to award these important research grants without our community of patients, families, scientists, clinicians and people like you. Thank you for believing in and powering our mission. Make a donation today and impact vital research as we drive closer to treatments every single day.
GRIN2B Foundation is pleased to announce an award of $56,457 to one post-doctoral research effort in its 2019 inaugural research grant initiative to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.
The grant is designed to support research in the 2019 funding cycle on changes to the GRIN2B gene, which have been linked to Intellectual Disability and symptoms of Autism in hundreds of children.
The recipient of GRIN2B Foundation’s 2019 research grant is Dr. Caitlin M. Hudac, an Assistant Professor at the University of Alabama for her research project entitled, “Linking Brain and Behavior: A GRIN2B Biomarker.”
Dr. Hudac will link a promising electroencephalography (EEG) based candidate biological indicator (“biomarker”) to clinical behaviors of children with disruptive GRIN2B mutations. EEG biomarkers will aid in the interpretation of GRIN2B function, by capturing real-time pictures of the neural process by which children with GRIN2B mutations think. This candidate biomarker can potentially be used as a clinical outcome assessment. This project will teach us about how brain markers of attention relate to the clinical behaviors observed in children with disruptive GRIN2B mutations. Testing a brain-based biomarker will prepare researchers for clinical trials and other treatment-focused research. To conduct her research, Dr. Hudac will perform EEGs on various research subjects with GRIN2B-Related Neurodevelopmental disorder.
The original scope of this project was to study 10 research subjects. After a rigorous review process, it was determined the project would be more successful with a larger cohort of 25 patients. The team at GRIN2B Foundation worked with Dr. Hudac to modify the proposal for a larger scope and agreed to increase funding from the original grant amount of $40,000 to $56,457.
Dr. Hudac works at the University of Alabama in the Center for Youth Development and Intervention (CYDI) and the Department of Psychology. Her program of research examines how the brain develops from birth through adulthood with a focus on potential areas of divergence associated with neurodevelopmental disorders (e.g., autism spectrum disorder, ASD; intellectual disability, ID).
Read more about Caitlin and her research study here.
Samuel Kwon, GRIN2B Foundation’s Science Director, was instrumental in guiding the GRIN2B Foundation Board of Directors through this inaugural grant cycle.
Kwon says, “Although GRIN2B-Related Neurodevelopmental Disorder is caused by variations in a single gene, multiple brain areas are affected because the product of GRIN2B gene is important for communication between brain cells in several different areas. Developing effective therapeutic interventions has been challenging due to the lack of a reliable indicator that captures an overall state of the brain during a specific behavior. Caitlin Hudac will combine EEG and a sensory processing task in human GRIN2B patients to develop a novel biomarker based on brain activity. Such development will enable a robust clinical outcome assessment and provide a link between behavioral deficits and brain activity in human patients.”
In the near future, Dr. Hudac and GRIN2B Foundation will begin seeking out families who may wish to participate in this study. Potential subjects must be willing to travel to Alabama for the study. Travel stipends will be available. Additionally, GRIN2B Foundation will ask Dr. Hudac to travel to Chicago next Summer for the recently-announced Family Weekend, where she can work with additional research subjects.
If they haven’t already done so, families should register with GRIN2B Foundation’s Contact Registry to ensure they receive all updates on this important study.
GRIN2B Foundation has seen the affected patient community grow from a mere handful to over 300 in the last few years. “This is a very exciting and important time of growth for both our organization and our extended GRIN disorder patient community,” said Liz Marfia-Ash, President of GRIN2B Foundation. “We believe our research grants, combined with our close collaboration between researchers, our patient community and our growing family of GRIN gene disorder patient groups & organizations will be critical to finding treatments and cures.”
This Grant program is only possible thanks to the efforts, integrity and guidance of the following groups, organizations and individuals:
“We have worked aggressively to raise awareness and fundraise, and our success is directly attributed to an engaged community of GRIN2B parents, families and friends who have rallied around us. We hope this research study is the first of many we can help foster through our funding program.” – Liz Marfia-Ash
By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member
Vacation. Hotels. Kids. Time away. These phrases evoke feelings of fun, activities, and relaxation for parents and families desperate for a break from the rat race. It’s harder for me to feel the same way. Vacations for my family are the ultimate wild card. I never know how our three kids, ages 2, 6 and 9 are going to react to a change in the routine. My wife and I have experienced getaways that swing wildly from fun to chaos, and back. Some have gone okay, others have been cut short. Not knowing how vacations are going to go or if our non-verbal daughter is going to enjoy herself are big stressors for me.
Our recent family getaway at the end of June was different. We took a 4 hour road trip from Chicago to the University of Michigan, Ann Arbor to visit the lab of Samuel Kwon, one of many GRIN2B researchers. Sam is an Assistant Professor and, according to his website, “studies mechanisms underlying neuronal dynamics and plasticity.” Don’t worry, we didn’t really know what that meant either.
We had met Sam and his wife at the GRIN2B Foundation Family Conference last year and had kept in touch ever since. My wife, Liz, our Board President, came up with the idea to combine a family vacation with a visit to the University of Michigan, and Sam graciously agreed to give our family and the Crider’s (another GRIN2B Family) a tour of his lab. For us, this was more than just an overnight trip. We were going on a journey to see first-hand, important research regarding GRIN2B-Related Neurodevelopmental Disorder. What’s more, we would be going with a built-in support system in the Crider family: Brittaney, Mike and their two kids.
During most vacations, our family is always the outlier. When things go wrong or when breakdowns occur, it can feel like we’re alone on an island. But having another GRIN2B partner family and a group of passionate researchers excited to see us calmed my anxiety and helped create a great getaway for everyone in our family. Like dorks, every member of our two families wore our GRIN2B t-shirts. Everywhere we went, people asked us questions about our “bee” shirts.
Our two families arrived at the University of Michigan and were met by Sam’s undergraduate research assistant (also named Sam!) who took us to the lab. Sam and his assistant gave us a brief presentation regarding their work and then took us on a tour of their impressive, extensive laboratory.
If I’m being honest, the minutiae of what Sam is doing was well over my head, and for good reasons. The research presentation was given in a small conference room with 5 children all under the age of 9; including our 2-year-old son who spent his time running around doing 2-year old things! In spite of the distractions, I was humbled by their passion and excitement to see us. Their PowerPoint presentation included citations from our website, www.grin2b.com. This may not seem like a big deal, but as an educator who recently finished his Masters Degree, it was so satisfying to see a group of brilliant researchers citing a website I helped create. The lab was extensive and it was a bit strange actually seeing the research mice. (Don’t worry – we’ll share more specifics about Sam’s lab towards the end. Keep reading!)
Sam and his family could not have been more gracious and patient with us. They were excited to speak with us and spend time with our families. Following the tour, they took us to lunch. After we bid them goodbye, the balance of the day was our own. Our family and the Criders went to a children’s indoor playground, had pizza in the hotel and then spent some time with the kids by the pool. Normal family stuff, but for me, this time it was free from the usual anxieties. Our kids behaved wonderfully, but having another family with us that also experiences the highs and lows that come with a GRIN2B diagnosis made all the difference.
Hopefully, this was just the first of many research road trips we will take!
If you were thinking you’ve heard of Sam Kwon before, it’s probably because he recently became GRIN2B Foundation’s Science Director! We were so impressed with his passion and expertise at our visit and knew we’d finally found the missing piece of our organization. Our Board was thrilled to offer him the position earlier this month, and he is already more than proving this worth by organizing our first grant cycle. Read Sam’s bio here http://grin2b.com/medical-advisory-board/
Between the science being over our heads and having to wrangle 5 children, ages 2-9, none of us adults were really able to take notes during this visit. We thought it was best for Sam to explain his work himself so here are his answers to our follow-up questions:
Samuel Kwon, PhD
How long have you worked for the University of Michigan?Tell us a little bit about your lab.
I have been working at the University of Michigan since January 2018. That is when I started my own lab after several years of postdoctoral research at Johns Hopkins. The research in my lab focuses on how nerve cells in the brain process sensory information and how this process is altered in humans carrying mutations in autism-related genes. My lab is especially interested in how brain cells change over time as a new knowledge or skill is learned. This is called ‘neural plasticity’. We leverage the fact that mammalian brains are similar across species and use mice as a model organism to study neural plasticity in the cerebral cortex of health and disease. We can train mice to perform simple behavioral tasks while monitoring and manipulating individual brain cells using state-of-art microscopic tools.
How did you become interested in studying GRIN2B?
In April 2018, I had the privilege to attend the scientific meeting organized by Simons Foundation, which provides a major support for my current research. The meeting was heavy on genetics of different neurodevelopmental disorders. Although I am not a geneticist, it was obvious to me that a set of genes required for proper signaling between nerve cells were strongly linked to various neurodevelopmental conditions. Grin2B was consistently one of them, but I didn’t look into it any further. Two months later, my wife and I found out thather 3.5-year-old nephew in South Korea had been diagnosed as having a Grin2B neurodevelopmental disorder. It took three years to find out since the time where his parents first started noticing severe developmental delays such as motor deficits and intellectual disability, because a Grin2B mutation is extremely rare in South Korea or anywhere in the world. To connect with other GRIN2B families, I attended the first GRIN2B Foundation Family Conference in September 2018. It was an invaluable experience for us at both personal and scientific levels. By talking and listening to other families, I learned a lot about the challenges that GRIN2B parents face daily as well as practical tips that could improve the quality of life of both parents and their children. The conference included research presentations by world-renowned neuroscientists. Inspired by these presentations, I decided to launch a research project in my own lab to investigate how Grin2B mutations impact neural circuits in the brain.
Tell us (in layman’s terms) about your work on GRIN2B.
A common hallmark of children with GRIN2B neurodevelopmental disorders is a motor dysfunction. We aim to understand how variations in GRIN2B impact the neural circuit for motor function using mouse models of GRIN2B variants. Specifically I will focus my effort on determining the time points when therapeutic interventions for motor dysfunction need to be focused. From there, Iwill expand our research directions toward a better understanding of how Grin2B mutants contribute to specific pathological hallmarks including sensory and cognitive impairments. We hope that this research would accelerate the availability of treatments for Grin2B-related syndrome.
What do you hope to learn from your mouse models?
We have been using a mouse model in which the level of GRIN2B can be reduced in specific brain cell types. This is called a ‘conditional knock-out’ mouse. I obtained this model from Professor John Gray at UC-Davis. One of the experiments being performed in my lab is to reduce GRIN2B in different areas of cerebral cortex and test its impact on motor function. In parallel, we are creating a ‘conditional rescue’ mouse in which GRIN2B can be switched on in specific brain cell types by the experimenter, at any point in time throughout development. With these resources, we would be able to experimentally modulate GRIN2B in specific brain areas at different time points and monitor its effects on behavior and brain function in living mice. These efforts will enable us to determine if there is a ‘critical period’ in which a normal level of GRIN2B is essential and will provide an important scientific framework for therapeutic approaches.
By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member
Hello! This is Phil Ash, teacher, father, Board Member for GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this latest episode, I share my personal thoughts and reflections from GRIN2B Foundation’s first family conference, which took place on September 21st and 22nd in Atlanta, Georgia. We are working on a written recap as well and are still gathering and editing content provided to us by our Researchers, Board Members and Parent Attendees. We will share this written recap in the next few weeks, hopefully!
Just like before, I have a few corrections and updates to share with you. First, I managed to mispronounce our lovely Board member, Carole Quennessen’s last name. It’s correctly pronounced KEN-ES-SEN. Sorry, Carole!
Also, I am pleased to share that Simons VIP Connect is working on re-branding and revamping their website, and they plan to add many languages to the site over the next year. As soon as this new website launches, we will share this with our community. This is truly exciting news as it will help international families connect with Simons and share their family data to their medical registries. Increasing the amount of GRIN2B patient data within these medical research databases is vital to furthering research and developing possible treatments in the future.
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.
By Liz Marfia-Ash, President & Founder of GRIN2B Foundation, Parent Advocate
On Wednesday, October 3rd, I attended the 7thGlobal Genes Rare Patient Advocacy Summit and I wanted to share my experience with our GRIN2B community. Possibly you might be thinking, “Wait a second, you’re going to tell us about the Global Genes Conference, but when are you going to fill us in on the GRIN2B Atlanta conference that took place in September?” Totally valid question. We are working on a newsletter that will recap the GRIN2B Conference experience and we are waiting on contributions from Board members, Researchers and Attendees. I promise, we will share all the details on our GRIN2B conference as well as videos of the presentations as soon as we can pull everything together.
In the meantime, I am coming off such a high from being surrounded by so many other like-minded individuals and I spent much of my 7 am flight home writing this blog.
If you’re not familiar with Global Genes, let me fill you in. Global Genes was founded in 2008 with the goal of helping families affected by rare disease connect with tools, resources, and much needed support, helping eliminate the challenges of rare disease. This year’s Summit was attended by eight hundred rare disease organizations, patients, advocates and partners. The resources that Global Genes offers via their website were integral in the early days of forming our Foundation.
Global Genes also offers a Foundation Alliance membership, bringing together rare disease foundations with a shared commitment to advocacy in order to build a stronger collective voice for the rare disease community. We are proud to be part of this Alliance and have made many valuable connections to other Alliance organizations.
The Summit took place this year at the beautiful Hotel Irvine in Irvine, California. Personal note, I had previously lived in California (near Los Angeles) for 9 years after graduating college and this trip was my first time back to California since moving away about 8 years ago. It’s a long flight, and I have not travelled much since having kids, but it was good to be back in sunny Cali and see the palm trees.
Due to my very busy work schedule and, you know, life, I was only able to attend the first day of the Conference – Wednesday. As we had all just traveled a week and a half ago for our GRIN2B conference in Atlanta, none of our other Board members were able to attend this event with me. A fellow GRIN2B parent, Pat, did attend with me, though I unfortunately barely saw him as we mostly attended different sessions.
There are bees everywhere!
In addition to soaking up all the rare disease knowledge, I was also very excited to connect in person with rare disease leaders at other organizations that I had previously only known via phone, Facebook or email.
I spent a large chunk of time in between sessions with my two co-President friends, Allison from SATB2 Gene Foundation and Haley from SETBP1 Society. SATB2 Gene Foundation started roughly around the same time we did and SETBP1 Society is just a little bit ahead of us. I have received so much valuable advice and support from these two lovely ladies via phone and email so it was a joy to meet them in person and trade notes.
I also had the privilege of meeting up with Amanda from The International CDKL5 Foundation. The IFCR has been around for 9 years and Amanda has been on the Board for a long time. Amanda and IFCR’s Science Director, Heidi had previously shared much of their wisdom on how to set up best practices in establishing a research grant application process. I am a bit of a rare disease organization groupie and I spend a lot of time cyber stalking other organizations so I can learn from what they are doing. It was a true pleasure to finally meet my mentors and peers in person.
Thank you to Global Genes for not only providing our #rare community such a warm environment to collaborate with our peers and mentors, but for also selecting an amazing roster of inspirational speakers.
The Keynote speaker on Wednesday was the vibrant and lovely Rachel Callander who shared her tear-inducing, uplifting speech about her book and movement, Super Power Baby Project.
Her message was about the power of using positive words when it comes to speaking about our #rare children. These words spoke right to my heart. Those that were at the GRIN2B Atlanta Conference a few weeks ago know that I shared a similar message in my opening remarks. (We will have this video available for you to watch soon!) Rachel’s story was one that many of us can relate to. When her daughter was born, she was diagnosed with partial Trisomy 9q and Partial Monosomy 6p and Rachel was told that these conditions were “incompatible with life.” Rachel hated the negative terminology and saw her daughter as beautiful and unique and as someone who lived in this world differently and that was okay with her.
Another relatable moment was her stress over having to fill out developmental questionnaires where the answer to every question about what your child can do is inevitably no. In response to this, she created “Evie’s Awesomeness Form.” On this form, she wrote up questions in relation to her daughter that would only receive a yes answer. I love the positive spin she put on this stressful task. When my daughter was a baby, I HATED those forms and eventually started to refuse to fill them out. Thankfully, our pediatrician was very understanding.
Favorite quote from Rachel – “You can’t be diagnosed with your identity.”
Sadly, Rachel’s beautiful daughter, Evie, passed away at the age of 2 ½, but she turned this devastating experience into something beautiful. She traveled all over her native New Zealand, capturing pictures of children with different genetic and chromosomal changes and put them all into the beautiful book, Super Power Baby Project. She also travels the world, giving speeches to encourage the medical community and others about the transformative power of using positive language. This talk was truly the highlight of my day. It’s now several days later and I can’t get this speech out of my mind.
Please watch her TedTalk here or check out her book. I bought a copy for myself and was honored to meet Rachel and get her autograph.
I could probably write for days about all that I saw, heard and experienced here, but none of us have time for that so I’ll sum up my key takeaways from all the sessions I attended throughout the day.
Luke Rosen, Founder of KIF1A.org encouraged us all to use videos as a way to engage Researchers and personalize our disorders. Good thing we have a board member with considerable skills in videography and editing!
I learned a lot about patient registries. We need to establish a centralized registry first before we can begin to move forward. The overarching message here was the importance for patient organizations to own their own data and make it accessible to any interested Researcher.
I spoke with John Wilbanks from Sage Bionetworks about the fact that we do not currently own any of the GRIN2B patient data, but rather several doctors and Simons VIP Connect all have patient data. He assured me that it was fine to keep our data with trusted doctors for now and that we don’t have to immediately leap forward and reinvent the wheel. At some point, he did think it would be good to transfer the data into a centralized registry.
I have information on several free or low cost platforms that we could use in the years to come. Whatever registry we use now and in the future, we will need a robust marketing plan to ensure everyone is utilizing it.
I had the pleasure of eating lunch with Jennifer Tjernagel, Project Manager with Simons VIP Connect. Jennifer had just been at our Atlanta conference a few weeks ago so it was fun to see her again. She revealed that Simons VIP Connect is in the process of re-branding and revamping their website and they plan to add many languages to their website next year. As soon as this new website is launched, we will share this with our community.
John Porter, Chief Science Officer for Myotonic Dystrophy Foundation spoke to the importance of having a science expert on the team who can handle all the correspondence with drug companies and regulatory agencies, as well as respond to inquiries from our patient community.
I loved this slide showing the linear timeline for the drug development process and how it never ends up working out perfectly. There are going to be many bumps in the road and starts and stops in the process. When it comes time for us to have clinical trials, a Science expert on our team will also be helpful to manage expectations. As they wisely said, “Clinical trials are not treatments. Clinical trials are an experiment.” Our Science advisor will need to be able to appropriately deal with these misconceptions.
Though I liked and got a lot out of the scientific sessions, as a writer and someone who believes in the power of words, I am always going to gravitate towards the motivational speakers over the scientific ones.
“Words are, in my not so humble opinion, our most inexhaustible form of magic; capable of both inflicting injury and remedying it.“ –J.K. Rowling
The night ended on a high note with speeches from Mike Porath, founder of the website, The Mighty, and Gunnar Esiason, a young man living with Cystic Fibrosis. Both of their messages were extremely impactful.
Mike was inspired to launch The Mighty after his daughter was diagnosed with Dup15q Syndrome years ago. He saw the isolation he and other families felt and saw a need for a forum to share their stories. He also shared one of their most popular posts, this video, which I have seen many times, but it was somehow more meaningful watching in person, surrounded by fellow rare disease advocates. This was truly a full circle moment for me personally as sharing my family’s #grin2b story on The Mighty two and a half years ago was the beginning of our advocacy journey and is what, ultimately, led to where we are today with the Foundation.
Mike Porath, Founder of The Mighty
The other message Mike shared that truly resonated was the importance of living in the moment. He spoke of how he had spent too much time worrying about what his daughter potentially wasn’t going to be able to do. This really struck a chord as I am a workaholic and not great at living in the moment, often thinking ten steps ahead. But when it comes to my daughter, I have gotten better at not projecting my fears of her future onto how I view her in the present. Our overwhelming feeling as a family is that she is who she is, and we will work hard to give her every opportunity to advance, but still love and cherish her for exactly who she is right now.
The last speaker was Gunnar Esiason, a Cystic Fibrosis patient and advocate. He was honest, engaging, inspiring and very funny. Gunnar is a very vocal advocate for the Cystic Fibrosis community and he shared what it was like growing up not fully understanding why he was different. He wisely advised parents to be open with their children about their diagnosis and to share the realities of any medications and procedures they might need. Also, when possible, parents should ask permission from their child should they choose to share their story publicly. I understand this is going to be difficult for many of our GRIN2B families as the majority of our children have speech limitations. My advice, should you choose to share publicly about your child, is to only share details that you would feel comfortable also sharing about yourself.
This one day event was informative, exciting, uplifting and, honestly, overwhelming. My brain was truly hemorrhaging information by mid-afternoon.
For me, the biggest takeaway was the comforting realization that our organization is on the right track in terms of pace, growth, mission and strategy. Everyone I met and spoke with was very supportive and encouraging and reinforced that we are on the right path. And it was clear that some of the bumps in the road we are dealing with are common problems in this rare disease nonprofit community. I look forward to attending this event next year with more members of GRIN2B Foundation and our parent community.
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!
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.
Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. The COVID-19 Pandemic continued to affect our families and our Foundation in 2021. In spite of its restrictions, we were busy laying the groundwork for three very important initiatives that are all happening in 2022. It only made sense to close out 2021 by reflecting on the year that was, and previewing the exciting things that lay ahead. To that end, I brought on a very special guest for this episode…my wife! Though that’s how I know her, the rest of you all know her as Liz Marfia-Ash, GRIN2B Foundation Founder and President. Liz reflects on the year that was while also discussing our 2022 happenings! These include a clinical trial for patients with gain of function GRIN2B variants, the opening of the first GRI Center of Excellence in Denver, Colorado and previewing our first in-person family weekend since 2018. Note – this episode was filmed in the final days of 2021.
The recipient of GRIN2B Foundation’s 2019 research grant is Dr. Caitlin M. Hudac, an Assistant Professor at the University of Alabama for her research project entitled, “Linking Brain and Behavior: A GRIN2B Biomarker.”
During most vacations, our family is always the outlier. When things go wrong or when breakdowns occur, it can feel like we’re alone on an island. But having another GRIN2B partner family and a group of passionate researchers excited to see us calmed my anxiety and helped create a great getaway for everyone in our family. Like dorks, every member of our two families wore our GRIN2B t-shirts. Everywhere we went, people asked us questions about our “bee” shirts.
Sam and his family could not have been more gracious and patient with us. They were excited to speak with us and spend time with our families. Following the tour, they took us to lunch. After we bid them goodbye, the balance of the day was our own. Our family and the Criders went to a children’s indoor playground, had pizza in the hotel and then spent some time with the kids by the pool. Normal family stuff, but for me, this time it was free from the usual anxieties. Our kids behaved wonderfully, but having another family with us that also experiences the highs and lows that come with a GRIN2B diagnosis made all the difference. 
Samuel Kwon, PhD
