Today GRIN2B Foundation happily announces our very first Executive Director, Elissa Taylor-Bustillo!* Not only does Elissa bring over 24 years of experience in donor management, nonprofit fundraising and community building, but she is also a passionate advocate in multiple realms like diabetes and rare diseases. As a result, she will work to enhance our foundation’s core principles of:
awareness
research
community
support
About Elissa Taylor-Bustillo
Elissa’s strong commitment to advocacy distinguishes her professional journey. For instance, she has a proven track record of managing successful donation campaigns for EveryLife Foundation for Rare Diseases and Greater DC Diaper Bank. In addition, her firsthand experience with the challenges of chronic illness and rare diseases only deepens her drive and empathy. All in all, her background and insight singularly prepared her for this position and, therefore, to make a real difference in the lives of individuals affected by GRIN2B-Related Neurodevelopmental Disorder.
The Role of Executive Director:
As GRIN2B’s new Executive Director, Elissa will oversee all aspects of the foundation’s operations, including:
strategic planning
fundraising initiatives
community outreach events
program development
Accordingly, she will work closely with the board of directors and volunteers to enhance the foundation’s impact and expand its reach.
A New Chapter for GRIN2B:
Please join us in giving GRIN2B’s Executive Director Elissa Taylor-Bustillo a warm and heartfelt welcome to our community! Additionally, if you are attending our GRIN2B Family & Research Weekend in July, you can meet Elissa in person.
“We’re ecstatic to take this next step in hiring our very first employee exactly seven years after founding our beloved GRIN2B Foundation. Without a doubt, Elissa’s unique skillset and her own personal journey with rare disease will steward our organization to incredible heights. Onward and upward!” – Liz Marfia-Ash, GRIN2B President and Founder
2023 was a memorable year full of exciting milestones. We opened the first North American Center of Excellence for GRI-Related Disorders at the Children’s Hospital Colorado. After working hard for several years to develop this idea, it felt so good to see the clinic finally open last May and start seeing patients. We are proud to support this endeavor and hope we can eventually fund additional Centers across the United States.
The first commercial clinical trial for GRIN2B patients began enrolling patients in Europe. As we wait on FDA approval in the United States, we will continue to advise Grin Therapeutics on their clinical trial design.
Our Board of Directors worked hard to create our first 5 year Strategic Plan. This process included in depth surveys completed by our board and community, as well as several lengthy planning meetings where we evaluated our programs and initiatives and shared our goals for moving our organization forward. We are slowly but surely working through our tactical action plan to make our Strategic Plan a reality.
Though we didn’t host an in-person conference ourselves in 2023, we were able to attend numerous conferences and meetups within the larger GRI community and Rare Disease spaces. Through these events, we were able to have fruitful conversations with families, researchers, clinicians and industry professionals. We are grateful for all the collaborations that come from attending these events. We really are stronger when we all work together on the individual pieces of the bigger picture.
And in the midst of everything, we also experienced devastating losses in our community. These tragedies remind us that there is still so much work to do for our community members in unraveling the mystery of GRIN2B. We simply don’t have the luxury of sitting back and hoping someone else will do something. Our community is too small. It’s up to each of us to make a difference and help our loved ones with GRIN2B.
You don’t have to do it all. Just pick one thing to focus on if that’s all you can do. Join a patient registry. Fundraise. Participate in research. Watch a webinar. Attend our July Family Weekend in Colorado. Join a Meetup.
Above all, we strongly encourage you to participate in research. An engaged community that contributes to research is our surest path forward to achieving successful clinical trials. Simply put, we need more data in order to move the needle.
Please take the time to read through all of our highlights from 2023 and our plans for this year. We are here to support each and every one of you and are happy to answer any questions.
As always, we are committed to providing support and education to our GRIN2B families, promoting awareness of this ultra-rare disorder and funding research. Our vision is a world where every family impacted with a GRIN2B diagnosis feels empowered and supported.
With hope,
Liz Marfia-Ash, GRIN2B Foundation Board President
2023 Year In Review
Operational & Administrative
Raised $203,508 in income.
Gathered data from two community surveys.
Developed our first Five Year Strategic Plan.
Developed a Corporate Sponsorship packet.
Began planning for 2024 Family Weekend Conference.
Support
Private parent support group grew from 723 to 809 members, representing 52 countries.
104 families completed our family registry on our website.
Continued our Bee Connected Meetups for families to connect and learn about resources.
Provided 7 Patient Assistance Grants.
Sent 3 Comfort Care Items to hospitalized patients.
“The financial support provided has been instrumental in alleviating the burden of expenses associated with our son’s DMI (Dynamic Movement Intervention) intensive therapy. The impact of these intensives on Jack’s overall development has been remarkable. Thank you once again for your unwavering support”
– Dianna, GRIN2B Mom, Patient Assistance Grant Recipient
Awareness
21 teams from 8 countries participated in our 4th Annual Bee Active for GRIN2B Walk, Run & Roll, raising $62k.
March Awareness Week campaign: profiled 18 patients, shared 2 symptoms videos and shared graphics with facts & resources.
Continued fundraising partnerships with Billy Footwear and See’s Candies.
In lieu of Amazon Smile shutting down, we joined the Walmart Round Up program.
“This past May we visited the Center of Excellence at Children’s Hospital in Aurora. It was so nice to be able to walk into a place and not have to explain what genetic disorder our daughter had, they just knew everything, plus more! We walked away with more understanding and a sense of belonging to a whole community.”
– Jelena, GRIN2B Mom
Research & Medical
GRI Center of Excellence at Children’s Hospital Colorado began seeing patients in May.
Awarded $20k in research funding in partnership with Uplifting Athletes to Riley Perszyk at Emory University.
Shared research opportunities with community – Inchstones Project, GRI Faces Project, Combined Brain Biomarker project, Project Wellcast.
3 blood samples from GRIN2B patients were added to our biorepository through Combined Brain.
Participated in Simons Searchlight’s “Shine your Searchlight” campaign to encourage families to join their GRIN2B registry.
Added Dr. Scott Metrick, GRIN2B parent and retired Neurologist to our Medical Advisory Board.
Sponsored and spoke at Cure GRI Conference in Boston.
Sponsored and spoke at iGlur (Glutamate Receptor) Conference in Chicago.
Attended the National Organization for Rare Disorders Breakthrough Summit.
Joined Cure GRIN Foundation’s Research Grant Review Committee to determine future projects to fund.
Supported Cure GRIN’s application to the CDC for an ICD-10 code for GRI Disorders.
Continued to work with GRIN Therapeutics on outreach and feedback on their Honeycomb clinical trial.
Continued to work with Duke University on the next phase of their Orca Study.
GRIN2B Foundation has been able to support over $365,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/
If you are interested in learning more about the research process, we recommend you download the following toolkit from our partner, Global Genes – Rare Research Roadmap.
Fundraise for us! So many people ask us about funding more research or additional Centers of Excellence, but we cannot do this without increased fundraising from our community.
The holiday season is upon us, everything around us is festive and exciting, our calendars fill up and if you’re a GRIN2B parent…anxiety is likely also creeping in. What do I buy for my GRIN2B kiddo? How many teachers, therapists, aides, bus drivers, tutors, etc do I need/want to shop for? Our hope with this Holiday Gift Guide is to take a little bit of the pressure off.
Skip the crowds this weekend, curl up in front of your computer and start online shopping! Please enjoy our 2nd Annual GRIN2B Foundation Holiday Gift Guide!
Whether you’re shopping for the kids, family, friends, teachers, therapists, or looking for something special just for you, we hope you’ll shop with a purpose this holiday season by checking out the incredible partners included in this list.
See’s Candies – stock up on yummy chocolate for all your loved ones.
Billy Footwear – purchase through our affiliate link to receive 10% off and 5% will be donated back to us.
Walmart – Are you a Walmart shopper? If so, you can now round up your Walmart orders to benefit GRIN2B Foundation and GRIN2B families and research. From the Walmart app or your online Walmart account, go to Account, then Giving and Impact, and search for “GRIN2B.” Then, turn off the location filter to find us!
*Pro Tip – Have you completed any Simons Searchlight surveys this past year? You may have unclaimed Amazon rewards waiting for you. Find out by visiting your dashboard today and get ready to shop!
Gift Ideas for our GRIN2B kiddos
Shop our New Amazon Holiday Gift Guide – full of products for your GRIN2B loved one. (GRIN2B Foundation will earn a commission on purchases from this list.)
We also highly recommend shopping at Fun and Function for sensory toys and tools!
Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. Happy July and Happy Disability Pride Month! This podcast episode in many ways represents a marker for me on a personal journey I began back in 2019. The school where I teach offered a professional development program called Seeking Educational Equity and Diversity or SEED training for short. The SEED program facilitates educators and communities toward personal, organizational, and societal change toward social justice. It especially reveals multiple, systemic forms of discrimination within our society, in the hopes that we will facilitate change so we can all do better for everyone.
What, you may ask, does this have to do with a podcast about rare disease? One of the systemic forms of discrimination covered in SEED is Ableism – the focus of this episode. To the neurotypical persons reading this blog, I ask each of you: when was the last time you thought about the fact that you exist everyday in a world that was made with you in mind? This is not a small thing – especially when you consider that for our disabled loved ones this is not the case. For them, they are discriminated against through limited access to all that our modern world has to offer. This is one form of Ableism that we will cover. The goal of this episode is to define ableism, name it in its various forms and reflect upon the times when we have all perpetuated ableism both in society at large and within the rare disease space. I promise my listeners that this episode will be very informative and probably uncomfortable at times to hear. But I encourage you all to lean into your discomfort with the knowledge that you will come out on the other side better for having experienced it and better able to be active allies for your disabled loved ones.
As part of this episode, I am thrilled to welcome Ashley Eisenmenger, a disability inclusion specialist, and disabled triathlete. I reached out to Ashley after coming across her incredible article defining Ableism and examples of Ableism both big and small. She will offer her unique perspectives on Ableism and how she experiences its effects both big and small. I hope you enjoy this episode and reflect upon your own experiences with Ableism. 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.
**WARNING: This podcast contains frank statistics involving physical and sexual abuse of disabled people. Listener discretion is advised.
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 thrilled to launch the first North American GRI Center of Excellence at the Children’s Hospital Colorado.
The GRI Center of Excellence will work to continually advance understanding of all GRI-gene Related Disorders (GRIA, GRID, GRIK & GRIN genes). Over time,our experts will research how these conditions unfold so they can develop standards of care for all those affected.
PURPOSE OF THE CENTER
This GRI Center of Excellence will help affected families access a team of multi-disciplinary specialists.The Center will ease the burden on families by bringing all the specialists together, instead of taking their affected loved one to multiple appointments. Children’s Hospital Colorado’s services include consultation and evaluation for individuals of all ages attending the clinic. Their expert providers will ensure patients are receiving the needed therapies, treatments, and services to support the best possible quality of life. Additionally, they will work to participate in natural history data collection and ground-breaking clinical research trials, as well as collaborating with providers across the country and the world. Children’s Colorado’s hope is to work with families and their primary medical team to create a care plan that places the patient’s needs at the center of care.
GRIN2B Foundation Vice President and Nurse Practitioner, Donna Dunn, has been integral in the development of this Center. “We are so excited to be part of this GRI Center of Excellence. The GRIN2B Foundation has worked tirelessly for over two years to provide this service for our families. Patients attending this center will have access to state of the art care by healthcare providers in the field. I look forward to seeing this service grow and be able to serve more families. Thank you GRIN2B Foundation and Children’s of Colorado!” – Donna Dunn, GF Vice President
Dr. Park speaks at the 2022 GRIN2B Family Weekend
Our GRI Center of Excellence team is led by Pediatric Epileptologist, Dr. Kristen Park and Developmental Pediatrician, Dr. Jessica Sanders, and includes a Nurse Coordinator and Genetic Counselor. We will also have access to the full roster of care providers through the Neurogenetics Multidisciplinary Clinic at Children’s Hospital Colorado (this includes Physical Therapy, Occupational Therapy, Speech Therapy, Palliative Care, Social Work and more).
“This first-of-its-kind GRI Center of Excellence will allow us to accelerate our research, develop standards of care, and provide unparalleled comprehensive and holistic care for children with GRI disorders and their families. We are immensely grateful to the GRIN2B Foundation for their incredible partnership and support.” – GRI COE Director, Dr. Kristen Park
In 2023, the Denver GRI Center of Excellence will host two full clinic days – May 19th and November 17th. Starting in 2024, the Center will see patients 4 half days per year. To schedule an appointment, please contact the Center’s Nurse Coordinator, Ryleigh VandenBroeke at GRIClinic@childrenscolorado.org.
GET INVOLVED
GRIN2B Foundation will create a clinic advisory panel for interested GRI parents to be updated on clinic activities by the medical director. The panel will meet twice yearly and can make suggestions to the medical director who ultimately oversees the GRI COE. If you are a GRI parent interested in joining the panel, please contact donna.dunn@grin2b.com.
🌟 For more information, please join our upcoming webinar with clinic Director, Dr. Kristen Park.
🌟 Dr. Park will also be attending Cure GRIN Foundation’s GRI Conference in March and will be speaking on a panel about Centers of Excellence on Friday, 3/24.
While we work hard to promote research that develops treatments and cures for GRIN2B, we can do a great deal right now to enhance the quality of life for all those with GRIN2B and related GRI genetic disorders by funding this Center of Excellence in Colorado.
GRIN2B Foundation hopes to fund future centers either on our own or in partnership with additional patient advocacy groups. Each Center requires several months or even years to establish, as there are numerous legal, ethical and financial considerations to arrange.
Consider making a DONATION today to help support the GRI Center of Excellence.
The GRI Center of Excellence has partnered with the RARE Bear program, a grassroots community-driven outreach program for kids with rare disease. Community volunteers create one-of-a-kind teddy bears for one-of-a-kind “rare” kids. Each patient who visits the GRI COE will be gifted with their own “Rare” Bear.
2022 was our biggest year yet! We were thrilled to connect in person at our July GRIN2B Family Weekend in Chicago and at our Bee Active fundraising events. We started laying groundwork for clinical trial readiness through the development of our Center Of Excellence, our partnership with Duke University on their Orca Communication Measure and, most excitedly, through our work with GRIN Therapeutics on the development of their Radiprodil clinical trial – the first commercial trial for GRIN2B patients. 2022 also saw us supporting families in familiar and unexpected ways. We supported and rescued a family from Ukraine, wrote letters of support for families in need of local services and we offered up an ongoing way for parents to connect through our Facebook group and our Bee Connected Zoom Meetups.
For research, we continued our partnership with Dr. Stephen Traynelis, awarding his lab $25K to continue their translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies. We nominated Dr. Riley Perszyk from Emory University to receive a grant through the Uplifting Athletes program and were thrilled when Dr. Persyk was chosen. We are also working with our sister organization, Cure GRIN Foundation, to assess potential future research projects to co-fund.
Our mission is intentionally broad to meet the diverse needs of our community. After 5 years, we are incredibly proud of our growth, but regret that we are limited in the amount of projects we can take on and research we can fund. Sometimes, we have to say no to projects due to limitations of funding, time and manpower. Rest assured that all our choices and programs are deliberate based on feedback and survey results from our community.
We are committed, as always, to providing support and education to our GRIN2B families, promoting awareness of this ultra-rare disorder and continuing to fund research.
If you are interested in helping our mission, we encourage you to get involved. Consider joining a committee, or let us know if you have a specific skill set and are willing to volunteer your time. But most importantly, just stay connected in whatever way works best for you – read our emails, follow us on social media and/or join our meetups and webinars.
Our passionate Board of Directors has historically driven the bulk of the fundraising for our organization. While our team remains dedicated to the cause, there is no question that in order to expand our research objectives, we desperately need more families to help drive fundraising. We cannot continue to make an impact without more support.
If supporting research and creating additional Centers of Excellence is important to you, please consider helping us fundraise. We’re happy to brainstorm with you – just reach out to fundraising@grin2b.com.
Please read our list of 2022 accomplishments below and let us know if you have any questions. We look forward to a bright and busy 2023!
“Our son Alex is 15 and has refractory epilepsy that is resistant to treatment. We decided to seek help from the Neurology team at BC Children’s Hospital in Vancouver. We applied for a Patient Assistance Grant to help us with the costs associated with traveling. We have been so grateful for all the support and guidance we have received from the GRIN2B Foundation.” – The Caleb Family
“I am sincerely grateful to all of you for your help and support. Thanks to GRIN2B Foundation and everyone who cares, we are alive and well. In a difficult period when Russia came to kill and torture in our home, GRIN2B Foundation came to our rescue. The whole family was rescued and supported, evacuated to a safe place. With the financial support, we were able to buy food and medicine and survive a difficult period in Poland.” – Nadezhda Bilous, Ukrainian GRIN2B Mom
Awareness
19 teams from 3 countries participated in our 3rd Annual Bee Active for GRIN2B Walk, Run & Roll, raising $46k.
March Awareness Week campaign: profiled 22 patients, shared 2 symptoms videos and shared graphics with facts & resources.
Started fundraising partnerships with Billy Footwear and See’s Candies.
Research & Medical
Signed contract with Children’s Hospital Colorado to develop the 1st North American Center of Excellence for GRI-gene Disorders.
Awarded $25k to the Stephen Traynelis Lab at Emory University to advance their translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies.
The Team from GRIN Therapeutics
4 stem cell lines for GRIN2B patients generated for research through partnership with Simons Searchlight.
Collected 5 blood samples from GRIN2B patients for our biorepository through Combined Brain.
Dr. Caitlin Hudac continued her EEG BioGene study, seeing patients at the GRIN2B Family Weekend.
Visited and gave feedback on GRIN Therapeutic’s first U.S. clinical trial site.
Continued to work with GRIN Therapeutics on outreach and feedback on their upcoming Radiprodil clinical trial, including drafting a letter of support for the FDA.
Helped identify and recruit families for Duke University’s Orca Study.
Presented to Duke University about GRIN2B.
A note about research. Sometimes people ask us why we aren’t further along in treating GRIN2B. Why aren’t we supporting either more research or specific types of research?
The fact is, it takes a LOT of money, time, understanding, safety and efficacy. It also takes a lot of bio specimens, patient participation and clinical trials. It takes a lot of collaboration with our Medical Advisory Board. While we believe Parents are important for driving research, it is still critical to rely on experts for guidance. And the truth is that wanting to fund more research simply isn’t enough. The members of our Medical Advisory Board have a diverse background and many of them are considered to be the foremost experts on GRIN disorders and NMDA receptors.
We would fund dozens of research projects a year if our budget allowed for it. Most scientific research is funded through a combination of government grants, companies doing research development and non-profit foundations. In rare diseases it takes a lot of time to find and apply for these opportunities, as well as a lot of research and expertise to get the ball moving. We pride ourselves on our ability to make our funding choices very thoughtfully and carefully.
GRIN2B Foundation has been able to support over $245,000 in GRIN2B research to date – and this amount is growing exponentially. Learn more about our funded research projects here – http://grin2b.com/awarded-grants/
If you are interested in learning more about the research process, we recommend you download the following toolkit from our partner, Global Genes – Rare Research Roadmap.
On the horizon for 2023
Finally launch Center of Excellence for GRI Disorders in Colorado, May 2023.
Review results of our latest Community Pulse Survey.
Fundraise for us! So many people ask us about funding more research or additional Centers of Excellence, but we cannot do this without increased fundraising from our community.
GRIN2B Foundation is pleased to announce an award of $25,000 to Dr. Stephen Traynelis’s Lab at Emory University for a project entitled:
“The Impact of NMDA Receptor Potentiation on Synaptic Plasticity in GRIN2B LOF Variants”
Dr. Traynelis is a Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA, and the Director of the Center for Functional Evaluation of Rare Variants (CFERV). For this project, the lab will test whether administration of an allosteric potentiator of NMDA receptors can rectify deficient synaptic plasticity observed in mice harboring a LOF GRIN2B variant.
“We are delighted to have received additional financial support from the GRIN2B foundation for our work on GRIN2B variants identified in patients. Our past funding has allowed us to translate in vitro functional results with GRIN2B variants into animal models, which we have developed, characterized, and are using to assess potential treatments. This latest round of funding will allow us to significantly expand our efforts on translational work with GRIN2B variants and animal models that are directed toward assessing potential therapeutic strategies. Specifically, these funds will accelerate our current work assessing how NMDA receptor potentiation (through glycine site agonists or positive allosteric positive modulators) can restore deficits in cellular models of learning observed in mice harboring a GRIN2B variant that reduces in vitro models of plasticity. We are excited to complete these experiments, and look forward to working to move our research results on a translational path toward establishing new therapeutic strategies.” – Dr. Stephen Traynelis
Hear Dr. Traynelis and Board President, Liz Marfia-Ash speak about this project on our Giving Tuesday Facebook Live around the 20:15 mark.
We would not be able to continue funding GRIN2B research 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.
Our team is always working to identify additional research projects to fund. Stay tuned for our next research funding announcement in mid January.
The holiday season is upon us, everything around us is festive and exciting, our calendars fill up and if you’re a GRIN2B parent…anxiety is likely also creeping in. What do I buy for my GRIN2B kiddo? How many teachers, therapists, aides, bus drivers, tutors, etc do I need/want to shop for? Our hope with this Holiday Gift Guide is to take a little bit of the pressure off.
Skip the crowds this weekend, curl up in front of your computer and start online shopping! Please enjoy our very first GRIN2B Foundation Holiday Gift Guide! We have both a list of vendors that give back to GRIN2B Foundation AND ideas for your GRIN2B kiddos.
Whether you’re shopping for family and friends, teachers and therapists, or looking for something special just for you, we hope you’ll shop with a purpose this holiday season by checking out the incredible partners included in this list.
See’s Candies – stock up on yummy chocolate for all your loved ones.
Revive Jewelry – Purchase our GRIN2B necklace and earrings, designed to honor the memory of RayAh, a sweet little girl from our community, who passed away in early 2020.
Billy Footwear – purchase through our affiliate link to receive 10% off and 5% will be donated back to us.
AmazonSmile – select GRIN2B Foundation as your charity of choice and .5% of all your purchases are donated back to us! Be sure you’re shopping through AmazonSmile.com on your computer. If shopping through the Amazon app, you’ll have to turn on AmazonSmile within the app.
*Have you completed any Simons Searchlight surveys this past year? You may have unclaimed Amazon rewards waiting for you. Find out by visiting your dashboard today and get ready to shop!
Gift Ideas for our GRIN2B kiddos (the links below do not benefit GRIN2B Foundation)
We also highly recommend shopping at Fun and Function for sensory toys and tools!
Last but not least, here are some personalized children’s book recommendations from GRIN2B Foundation President, Liz Marfia-Ash. These are books that celebrate disability and inclusion and are great for younger GRIN2B kiddos AND their Siblings
A Day With No Words by Tiffany Hammond (Available for preorder only, but this one’s sure to be great as it’s written by an Autistic mother about her Autistic, non-speaking son.)
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.
By Liz Marfia-Ash, President and Founder of GRIN2B Foundation
In our Private GRIN2B Parent Support Group on Facebook, a parent recently commented that most GRIN2B Parents have read the blog post I wrote back in 2016 – To the Person Who Just Googled GRIN2B For the First Time. I don’t know if that’s true, but, regardless, it’s an immense responsibility and privilege to know that my words are impacting newly diagnosed families. It’s why I wrote the article in the first place, but it’s quite another thing to hear someone else say it.
In 2016, I wrote to give future families hope.
I wanted more families to find us and know that we were getting organized. I wanted families to have what I didn’t have – a soft place to land when they received the diagnosis for their child. We’ve accomplished that, and families from all over the world have found us.
Now I’m writing to tell you what to do next. A lot is happening in our community in the coming year, and I want you to be prepared and know how you can participate.
Two of the events we’re most excited for in 2022 are hosting our twice-postponed GRIN2B Family Weekend in July 2022 and launching the first ever Center of Excellence for GRI Disorders!
The Family Weekend will be July 15th and 16th, 2022 at the Hyatt Regency O’Hare, just minutes away from O’Hare Airport in Chicago. We’re planning an amazing two days for families, full of GRIN2B updates, resources and as many opportunities for families to connect and bond as we can squeeze in.
The Center of Excellence is an idea we have been working on since late 2019. Working with input from the team at Cure GRIN Foundation, this Center will be a place where all patients with GRIN, GRIA, GRIK and GRID Disorders can go to see a Team of experts. We are still finalizing the details, but the first Center will hopefully open in Spring of 2022 in Denver, Colorado. Our dream is to open more Centers around the U.S. in future years, though that will be dependent on increasing our fundraising. More to come soon!
Excitingly, we are also finally on the precipice of our first clinical trial! In case you missed the news, the newly formed GRIN Therapeutics is launching a clinical trial for the drug Radiprodil in 2022 for GRIN2B patients with a Gain of Function variation. If you’re not sure what Gain of Function even means, you can get a simple definition at the bottom of this page. Or read this blog from Dr. Tim Benke.
Or, follow along for my quick and dirty explanation.
Your child receives their diagnosis. Their genetic report will list the details of your child’s specific variant. (Example: c.1146 G>A) This page helps explain the different types of variations that can occur and how to read your child’s genetic report.
Each variant is then going to be further classified as either Gain of Function or Loss of Function.
Different medications will be recommended depending on which type of classification your child falls into (Gain or Loss).
As previously mentioned, the upcoming Radiprodil clinical trial is only for Gain of Function patients. There will be additional trials down the line for Loss of Function patients.
We are working with the team at GRIN Therapeutics to help design this upcoming Clinical Trial and determine the best locations to have trial sites. But to do this, we need to know which patients are classified as Gain of Function. And for that to happen, we need every GRIN2B patient to be enrolled in the GRIN Variant Patient Registry.
So, if you haven’t already, please do the following:
Once enrolled, your child’s variant info will be sent to the Center for Functional Evaluation of Rare Variants (CFERV) at Emory University where they will perform the functional analysis to determine if the variant is Gain or Loss.
If the variant is found to be Gain of Function, start thinking about the possibility of enrolling your child in the upcoming clinical trial.
Feeling overwhelmed yet? It’s complicated for me to explain, so I imagine how this must feel to newly diagnosed families. Our Family Advisory Committee is currently working on developing Welcome Packets and Checklists for our Community to help get you started on the right foot. In the meantime, I’ve created some helpful checklists below. Keep in mind, these lists are not all inclusive. Think of this post as merely a starting point, and know that something more comprehensive is in the works.
Please, please, pretty please put these at the top of your list (if you haven’t already done them).
JOIN the Family Contact Registry for GRIN2B Foundation. This puts you on our organization’s mailing list. It also gives us a general idea of how many families we are supporting and where everyone is located.
JOIN our private GRIN2B Parent Support Group (if on Facebook) to connect with other families – we’ve got an incredibly welcoming community! (Be sure to answer our questions when you request to join or we cannot approve you.)
There are more research studies in the pipeline. Keep an ear out for new opportunities.
Fundraise for us, or consider making a monthly or one time donation. We see our GRIN2B families as families first and foremost and NOT as donors. That being said, GRIN2B is not really the type of disorder that is going to get donations from random, rich strangers. Our biggest donors are either families themselves or friends and relatives of GRIN2B patients. We have a lot going on in the coming years, and we are going to need the community to participate in fundraising. You don’t need to throw a fancy gala. We have so many easy ways to fundraise for us listed on our website. The truth is, we cannot keep working at this current pace without more fundraising support.
Let us know if you want to get more involved. We’re always looking for people skilled in the following areas – Fundraising, Legal, Financial, Marketing, Science/Medical. Email me at liz.marfia-ash@grin2b.com.
Resources to help you and your extended family. (The holidays are a great time to share these resources with loved ones who may be interacting with your family.)
If the above lists have you feeling stressed out, take a deep breath. And then sit and think for a second about how none of these programs, clinical trials, future centers of excellence, resources, fundraisers and support groups existed seven years ago. We have so much to be thankful for. “I don’t have to chase extraordinary moments to find happiness – it’s right in front of me if I’m paying attention and practicing gratitude.” – Brene Brown
Ashley Reid, a GRIN2B mom on our Family Advisory Committee recently shared an amazing testimonial about our organization.
“Whether we are looking for community, advice, the latest research studies or just to feel less alone, the GRIN2B Foundation makes room for everyone.”
Making room for everyone is at the heart of our Foundation. Everyone comes to us at a different place; some have babies who are being diagnosed, and some are finally putting a name to what their adult children have lived with their entire lives. There is no right or wrong way to process the diagnosis or get involved with our community. But, for those who are ready to get involved in whatever way possible, this blog is the resource you are looking for.
There’s truly no rush to do everything at once. Just do the next right thing.
Purchase GRIN2B Foundation Merchandise through:
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 
In our Private GRIN2B Parent Support Group on Facebook, a parent recently commented that most GRIN2B Parents have read the blog post I wrote back in 2016 – 
We are working with the team at GRIN Therapeutics to help design this upcoming Clinical Trial and determine the best locations to have trial sites. But to do this, we need to know which patients are classified as Gain of Function. And for that to happen, 
Please, please, pretty please put these at the top of your list (if you haven’t already done them).
Making room for everyone is at the heart of our Foundation. Everyone comes to us at a different place; some have babies who are being diagnosed, and some are finally putting a name to what their adult children have lived with their entire lives. There is no right or wrong way to process the diagnosis or get involved with our community. But, for those who are ready to get involved in whatever way possible, this blog is the resource you are looking for.