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Author: Liz Marfia-Ash

Liz Marfia-Ash is the President and Founder of GRIN2B Foundation. She lives just outside Chicago, Illinois with her husband and three children and is a very busy working Mom.

2024 Year In Review

Dear GRIN2B Families, Friends and Supporters,

After completing our first 5 year Strategic Plan in 2023, we started 2024 with a renewed sense of energy and optimism. Our first goal was to expand our team. After recruiting two new board members, we took our biggest step yet and hired our first staff member, an Executive Director, Elissa Taylor-Bustillo. You’ll hear from Elissa below, but she has been nothing short of a miracle worker for our organization. While a nonprofit organization run by parent volunteers is certainly a noble cause, it’s not practical for sustainability. We are grateful to the generosity of the Wright Family for providing us the funding for our Executive Director’s salary. 

Thanks to Elissa’s expert guidance, we have restructured our board, created new volunteer opportunities and we will be unveiling new programming throughout 2025.

Though we did not fund any research grants in 2024, we, instead, conducted a deep dive into understanding the landscape of GRIN2B research, the work our partner organizations are doing and how we can best fill in the gaps. To better assess the needs of our community, we partnered with Combined Brain on the following initiatives: hosting our first Research Roundtable Meeting with 16 Researchers, creating a Caregiver Priority Survey completed by 100 GRIN2B families and started developing our first Strategic Research Plan. We are currently reviewing our Strategic Research Plan and the results of the Caregiver Survey to determine Research Priorities for our next research grant cycle.

We also partnered with Combined Brain and the University of Minnesota on a GRIN2B Disease Concept Model. This model is a formal framework that captures the relationship between symptoms, concerns, and impact on daily life based on qualitative interviews. This important work is being conducted by Genetic Counseling Student, Liana Cole and is open to families in the United States. Please sign up for this study! An engaged community that contributes to research is our surest path forward to achieving successful clinical trials. 

We continued to support the GRI Center of Excellence at Children’s Hospital Colorado in its second year, both financially and in an advisory capacity. We worked behind the scenes all year long to partner with a hospital on the East Coast to launch a 2nd GRI Center of Excellence site. Fingers crossed we’ll have an update soon!

Our biggest event of 2024 was hosting our 3rd GRIN2B Family Weekend in Aurora, Colorado with over 125 attendees from our family and research communities. Spanning 3 days, this was our most ambitious conference yet. We had a wonderful time connecting with researchers and families, hearing updates on all the research and clinical initiatives, hearing meaningful stories from families, sharing resources and strategies with each other and building connections. We look forward to hosting our next GRIN2B Family Weekend during the Summer of 2026!

2024 also saw us receiving exciting updates about clinical trials. GRIN Therapeutics announced positive topline results from their Radiprodil Trial with plans to launch a Phase 3 study in 2025 and finally expand to the United States. We also heard from Longboard Pharmaceuticals at our July Conference about their study to evaluate bexicaserin as a potential treatment for those living with developmental and epileptic encephalopathies.

We’ve made so much progress since my daughter was diagnosed 10 years ago when so little was known about GRIN2B. I’m so excited to see what’s in store for our community over the next 10 years.

Please take the time to read through all of our highlights from 2024 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 a parent to a GRIN2B child, I fully understand how difficult it is to find the bandwidth to take on more responsibilities. But the truth is, we’re all we’ve got. No one is going to swoop in to save our kids. We can achieve great things if we all work together to create meaningful change for our loved ones with GRIN2B.

Our vision is a world where all GRIN2B families feel empowered and supported.

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

Letter from the Executive Director

Dear GRIN2B Community,

As we move forward into 2025, I am profoundly humbled to reflect on the incredible progress and unity our GRIN2B community achieved in 2024. This past year was a testament to the strength and determination of patients, families, caregivers, and supporters like you, who inspire us to continue striving toward a brighter future.

I am truly honored to have been selected to help lead the helm of the GRIN2B Foundation. Together with our dedicated board, volunteers, and supporters, I’ve had the privilege of working to develop programs, activities, and support measures designed to advance equitable access to lifesaving diagnoses, treatments, and eventual cures for our patient community. This role is both a privilege and a responsibility, and I approach it with deep gratitude and commitment to each of you.

In 2024, we continued to prioritize patient and family support by expanding resources and offering new opportunities to connect and learn. Our biennial family conference, a highlight of 2024, brought us together to share experiences and foster a sense of belonging. These moments remind us of the power of community and the importance of amplifying every voice in this journey.

In research, we made significant strides by expanding participation in the patient registry and natural history study, both critical to advancing understanding and innovation for GRIN2B Neurodevelopmental Disorder. Additionally, we worked to ensure that healthcare providers are better equipped to deliver informed and compassionate care to our loved ones.

None of these accomplishments would have been possible without the steadfast support of our sponsors, donors, and volunteers. Your generosity has made this work possible and continues to lay the foundation for the breakthroughs we all hope to see.

As 2025 begins, we are excited to build upon this momentum. Our focus remains on expanding access to resources, advancing research, and ensuring the long-term sustainability of our mission. Together, we will continue to support one another, break down barriers, and create opportunities for every individual in the GRIN2B community to thrive.

Thank you for being an essential part of this journey. I am endlessly grateful for your trust and partnership as we work toward a future filled with hope, progress, and opportunity.

With heartfelt gratitude,

Elissa Taylor-Bustillo, Executive Director

GRIN2B Foundation

2024 Year In Review

Operational & Administrative 

  • Raised $233,952 in income.
  • Hired 1st Executive Director, Elissa Taylor-Bustillo, to lead and grow our impact. 
  • Brought on two new Board Members, Dan Reid and Travis Price.
  • Brought on one new Intern, Damaris Gonzales, to help with operational projects.
  • Developed new materials and a streamlined webpage for Volunteer opportunities with a goal of improving engagement and onboarding.
  • Re-structured Board Responsibilities.
  • Hosted Get Involved Webinar.

GRIN2B Family & Research Weekend

  • Hosted 3rd Conference in Aurora, Colorado, July 19-21, 2024
  • 228 attendees in person and virtual 
  • 30 families 
  • 24 Researchers, clinicians and medical professionals 
  • 21 presentations 
  • 18 GRIN2B individuals 
  • 9 patient blood samples collected by Simons Searchlight 
  • 8 patients participated in the Biogene Study with Dr. Caitlin Hudac 
  • 6 Travel Stipend grants were awarded to families
  • 5 countries represented 
  • 3 family stories shared 
  • 1 dance party 
  • Countless core memories created 

View recordings here: Day 1, Day 2, Day 3

Thanks to our event sponsors: GRIN Therapeutics, Simons Foundation, Autism Brain Net, Longboard Pharmaceuticals, Cure GRIN Foundation, Cure Epilepsy, Ultragenyx, Dearly Beeloved, Beth and Oliver Wright and Liz Marfia-Ash and Phil Ash 

“The GRIN2B Foundation Family Weekend is a must-attend event for any family affected by GRIN2B-related disorders. It provided us with hope, knowledge and a sense of belonging that we will carry with us long after the weekend is over.“

-GRIN2B Family & Research Weekend Attendee

Support 

  • Private parent support group grew from 809 to 892 members, representing 55 countries.
  • 103 families completed our family registry on our website.
  • Continued our Virtual Bee Connected Meetups for families to connect and learn about resources.
  • Provided 5 Patient Assistance Grants to families.
  • Sent 1 Care Package to a GRIN2B family.
  • Wrote a support letter to help a family obtain regional services.
  • Provided guidance to families re: signing up for registries, accessing the GRIN Portal, accessing resources and participating in clinical trials.
  • Hosted two Focus Groups with GRIN2B families to seek feedback on the development of our Welcome Booklet for new families. (coming soon!)

“We are extremely grateful to have been awarded a specialist pram through the Grin2b Patient Assistance Grant. This pram will ensure that India is able to enjoy family days out and will give us peace of mind that India is safe and comfortable whilst doing so. We are very lucky that the Foundation is able to support grants like this and we cannot thank them enough. India loves her new pram. Thank you so much for making this possible for her.” 

– India’s mom, Rose Marshall, Patient Assistance Grant Recipient

Awareness 

  • 18 teams participated in our 5th Annual Bee Active for GRIN2B Walk, Run & Roll, raising $73k.
  • March Awareness Week campaign: profiled 20 patients, shared 2 symptoms videos and shared graphics with facts & resources.
  • Created a new Awareness Video during March.
  • Featured in the following media: Today.com article, Global Genes’ Rare Daily blog and CheckRare video.
  • Provided Awareness resources to families: Google Slide Awareness Presentation for Schools, Awareness card and Coloring Sheet.
  • 3100+ followers on our public Facebook page. 
  • Created and sold our 2025 GRIN2B Calendar.
  • Continued fundraising partnerships with Billy Footwear and See’s Candies. 
  • Partnered with GRIN2B Mom, Sarah Nunnally, on her Honeybee Board Book. 

 

 

 

 

 

 

Advocacy

  • Signed 19 letters supporting critical rare disease initiatives, including a letter advocating for the renewal of the Pediatric Review Voucher program, which incentivizes the development of treatments for pediatric rare diseases and ensures continued access to life-saving therapies for children.
  • Met with lawmakers to advocate for equitable access to diagnostics, treatments, and research funding for our GRIN2B community.
  • Developed programming to amplify the voices of GRIN2B patients, empower families and caregivers with tools to effectively share their stories and engage with policymakers and stakeholders; this programming will be officially launching in 2025.
  • Attended legislative briefings to educate government representatives on the unique challenges faced by the GRIN2B community and the urgent need for increased support.
  • Partnered with other rare disease organizations to push for policies supporting expanded genetic testing and early diagnosis, helping to ensure no family faces delayed or incorrect diagnoses.
  • Increased our visibility in national and global diversity, equity, inclusion, and access (DEIA) efforts, ensuring GRIN2B Neurodevelopmental Disorder remains part of broader conversations about these integral priorities.
  • Created materials to provide families with resources to participate in state-level advocacy initiatives, empowering them to fight for accessible healthcare and services in their local communities.

“Finding a doctor who understands or knows about our son’s condition is hard. At the Center of Excellence we met with a whole team of caring individuals ready to give their support and expertise. They also worked to ensure we were connected to the right supports at home too. I am able to reach out anytime and they are quick to respond to any follow up concerns or questions. My family and I feel extremely blessed to be able to utilize the Center of Excellence for our son’s care.”

–  Austin’s Mom, Miranda D’Angelo

Research & Medical

  • Launched GRIN2B Disease Concept Study, in partnership with Combined Brain and University of Minnesota.
  • Developed our first Strategic Research Plan to guide GRIN2B research initiatives (still in progress).
  • Hosted 1st Research Roundtable Meeting in conjunction with our GRIN2B Family & Research Weekend.
  • Launched our Caregiver Priority Survey to determine what symptoms matter most to families.
  • Continued to support GRI Center of Excellence at Children’s Hospital Colorado in its 2nd year seeing patients.
  • Began preliminary conversations about launching a 2nd GRI Center of Excellence site. 
  • Hosted webinar on Clinical Trials FAQ’s.
  • 9 blood samples from GRIN2B patients were added to our biorepository through Simons Searchlight.
  • Shared research opportunities with community – GRIN Therapeutics Qualitative Study for Caregivers, Cincinnati Children’s Sibling Research Study, Combined Brain Biomarker project.
  • Participated in ​​Simons Searchlight’s “Shine your Searchlight” campaign to encourage families to join their GRIN2B registry.
  • Attended GRI Conference in London.
  • Attended the National Organization for Rare Disorders Breakthrough Summit.
  • Attended Global Genes Rare Advocacy Summit and Health Equity Summit
  • Continued to work with GRIN Therapeutics on outreach and feedback on their Radiprodil clinical trial.
  • Continued to work with Duke University on the next phase of their Orca Study.

GRIN2B Foundation has been able to support over $410,000 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 drug development process, you can take NORD’s Rare Disease Drug Development Course.

 

On the horizon for 2025

  • Finalize our Strategic Research Plan.
  • Attend Rare Disease Week on Capitol Hill.
  • Continue to work towards a partnership for a 2nd GRI Center of Excellence site.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Celebrate GRIN2B Awareness Week, March 12-18. Our theme is “Bee Aware & Take Action.”
  • Re-open our Patient Assistance Grant Program in March.
  • Open the next RFP Research Grant Cycle with new targeted priorities.
  • Continue to work with Duke University on Phase 2 of their Orca (communications) Study.
  • Host more Virtual Bee Connected Meetups & informational webinars.
  • Partner with Cure GRIN Foundation to host Regional Family Meetups.
  • Host 6th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September.
  • Continue to Collaborate with GRIN Therapeutics on the study design for the next phase of their Radiprodil Clinical Trial.
  • Sponsor and attend GRI Con (July 2025, hosted by Cure GRIN Foundation) and the GRIN Europe Conference (Nov 2025, hosted by GRIN Europe and GRI Italia).
  • Begin to engage with the FDA.
  • Begin working with the GRI Center of Excellence to compile evidence-based guidelines for treating patients with GRI Disorders.
  • Continue to collaborate with GRIN clinicians, researchers and partner advocacy organizations.
  • Early planning of our 2026 GRIN2B Family & Research Weekend, location tentatively on the East Coast.

Get Involved in 2025!

  • Volunteer with us.
  • Make a donation or sign up to become a monthly donor. 
  • Become a Corporate Sponsor. Email elissa.taylor-bustillo@grin2b.com.
  • 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.
  • Start planning your 2025 Bee Active for GRIN2B Event!
  • Follow us on Facebook, Instagram, Linkedin and YouTube.
  • Join our Family Registry.
  • Participate in research studies that are appropriate for your child/family.
  • Sign up for the GRIN2B Disease Concept Study if you haven’t already! (U.S. families only)
  • Keep a look out for announcements about upcoming webinars and meetups!

General inquiries & Fundraising – elissa.taylor-bustillo@grin2b.com
Research Studies and Registries – liz.marfia-ash@grin2b.com
Center of Excellence – donna.dunn@grin2b.com
Family Support / Patient Grants – brittaney.crider@grin2b.com 

Thank you!

We are grateful for the following organizations and families that donated $2500 or more in 2024.

Beth and Oliver Wright
Ila Goldstein
GRIN Therapeutics
Simons Foundation
Autism Brain Net
TJX Foundation
Longboard Pharmaceuticals

 

 

GRIN2B Foundation Welcomes New Executive Director!

Photo of GRIN2B's new Executive Director, Elissa Taylor-Bustillo. Picture shows a smiling confident woman with flowing long hair, wearing a yellow green top.

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

Contact:

You can email GRIN2B Foundation’s Executive Director at elissa.taylor-bustillo@grin2b.com.

 

*We would like to note that one of our GRIN2B families generously provided the salary for this role.

2023 Year In Review

Dear GRIN2B Families, Friends and Supporters,

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.
  • Continued to support the GRIN2B family we rescued from Ukraine in 2022. 
  • Wrote a support letter for a family to help them obtain regional services.
  • Provided guidance to families re: signing up for registries and accessing the GRIN Portal.
  • Continued to develop our Welcome Booklet for new families. (coming soon!)
  • Developed Registry Info Sheet. 
  • Partnered with Mejo, a medical journal app specifically geared towards rare disease families. 
  • Created Amazon Gift Guide, with curated gifts for GRIN2B children. 

 

“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.
  • Created a new Awareness Video during March.
  • Created a downloadable Awareness card for families.
  • 2700+ followers on our public Facebook page. 
  • Produced 1 new episode of Celebrating Rare: The GRIN2B Podcast.
  • Created and sold our 2024 GRIN2B Calendar.
  • 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.
  • Hosted webinars on the Center of Excellence and Gain & Loss of Function Variants.
  • 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.

On the horizon for 2024

  • Host our 2024 GRIN2B Family Weekend July 19-21 in Denver, Colorado.
  • Coordinate first Research Roundtable to develop our Strategic Research Priorities (July 19th, 2024).
  • Investigate new hospitals to partner with for GRI Center of Excellence sites.
  • Expand our Board of Directors, and develop a plan to hire our first staff member.
  • Celebrate GRIN2B Awareness Week, March 12-18. This year’s theme is “Bee Aware & Take Action.”
  • Re-open our Patient Assistance Grant Program in March.
  • Announce our next Research Grant award.
  • Continue to work with Duke University on Phase 2 of their Orca (communications) Study.
  • Work through our tactical action items from our Strategic Plan.
  • Develop a Volunteer packet.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Host more Bee Connected Meetups & informational webinars.
  • Host 5th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September 2024.
  • Continue to Collaborate with GRIN Therapeutics on the study design for their Honeycomb Trial.
  • Begin to engage with the FDA.
  • Continue to collaborate with GRIN clinicians, researchers and partner advocacy organizations.

Get Involved in 2024!

  • Join a Committee.
  • Attend our 2024 GRIN2B Family Weekend in Denver this July. Registration info coming soon.
  • Make a donation. 
  • Become a Corporate Sponsor. Email fundraising@grin2b.com.
  • 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.
  • Follow us on Facebook and Instagram.
  • Join our Family Registry.
  • Participate in research studies that are appropriate for your child/family.
  • Keep a look out for announcements about upcoming webinars and meetups!

 

General inquiries & Conference Planning – liz.marfia-ash@grin2b.com

Center of Excellence – donna.dunn@grin2b.com

Family Support / Patient Grants – brittaney.crider@grin2b.com

Fundraising – fundraising@grin2b.com

 

Thank you!

We are grateful for the following organizations and families that donated $2500 or more in 2023.

Ila Goldstein
Dave Matthews
Beth and Oliver Wright

 

2023 GRIN2B Foundation Holiday Gift Guide

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. 

Partners that give back to GRIN2B Foundation

Purchase GRIN2B Foundation Merchandise through:

Bonfire – GRIN2B Holiday sweater, Awareness apparel, hats

Threadless – coffee mugs, blankets, notebooks, tote bags and more!

Our merchandise makes great gifts for teachers and therapists!

Additional Vendors that Give Back:

2024 GRIN2B Calendar – featuring 71 GRIN2B individuals.

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!

Happy Shopping!!

Celebrating Rare: The GRIN2B Podcast, Episode 8

By Phil Ash, GRIN2B Foundation Board Member

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 Funds GRI Center of Excellence in Denver

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.

INFORMATIONAL WEBINAR

Monday, March 6, 2023

5:00 pm MT | 6:00 pm CT | 7:00 pm ET | 4:00 pm PT

Register to join the ZOOM MEETING – https://bit.ly/GRI-COE-Webinar

🌟 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.

For general questions about the Center, please contact Nurse Coordinator Ryleigh VandenBroeke at GRIClinic@childrenscolorado.org or Donna Dunn at donna.dunn@grin2b.com.

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 Year In Review

Dear GRIN2B Families, Friends and Supporters,

GRIN2B Foundation Board of Directors

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!

With hope,

Liz Marfia-Ash, GRIN2B Foundation Board President

2022 Year In Review

Operational & Administrative

 

 

 

 

 

 

 

 

Support

  • Hosted GRIN2B Family Weekend in July with 25 GRIN2B families and 100+ attendees.
  • Launched Bee Connected Meetups for families to connect and learn about resources.
  • Private parent support group grew from 646 to 723 members, representing 50 countries.
  • 103 families completed our family registry on our website.
  • Coordinated resources and helped rescue a GRIN2B family out of Ukraine.
  • Provided 4 Travel Stipends for families attending our GRIN2B Family Weekend.
  • Provided 2 Patient Assistance Grants.
  • Sent 1 Comfort Care Item to a hospitalized child.
  • Wrote support letters for 2 families to help them obtain regional services.
  • Provided guidance to families re: signing up for registries and accessing the GRIN Portal.
  • Family Advisory Committee began working on a Welcome Booklet for new families.

 

“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.
  • Created a new Awareness Video during March.
  • 2300+ followers on our public Facebook page. 
  • GRIN Therapeutics produced a series of videos featuring our community during the GRIN2B Family Weekend. 
  • Created and sold our 2023 GRIN2B Calendar.
  • 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.
  • Celebrate GRIN2B Awareness Week, March 12-18.
  • Sponsor and attend Cure GRIN conference in March.
  • Develop our 1st Strategic Plan.
  • Develop Corporate Sponsorship packet.
  • Partner with Uplifting Athletes to co-fund a Young Investigator Grant for Dr. Riley Perszyk at Emory University.
  • Finalize our Welcome Booklet for New Families and translate into several languages.
  • Continue our Bee Connected Meetups.
  • Plan various informational webinars.
  • Begin early planning for the 2024 GRIN2B Family Weekend.
  • Host 4th Bee Active for GRIN2B Walk, Run & Roll Fundraiser in September 2023.
  • Continue to collaborate with GRIN medical community and partner organizations on future research projects to fund.
  • Continue to recruit new volunteers, board members and advisors.

Get Involved!

General inquiries – liz.marfia-ash@grin2b.com

Center of Excellence – donna.dunn@grin2b.com

Family Support / Patient Grants – brittaney.crider@grin2b.com

Family Advisory Committee – lauren.hookings@grin2b.com

Fundraising – fundraising@grin2b.com

 

GRIN2B Foundation Awards $25K to Emory University

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.

Read about our previously funded projects here.

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.  

DONATE TODAY TO CONTINUE SUPPORTING RESEARCH

Thank you,

Liz Marfia-Ash, GRIN2B Foundation Board President

GRIN2B Foundation 2022 Holiday Gift Guide

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. 

Partners that give back to GRIN2B Foundation

Purchase GRIN2B Foundation Merchandise through:

Bonfire – GRIN2B Holiday sweater, Awareness apparel, hats

Threadless – coffee mugs, blankets, notebooks, tote bags and more!

Our merchandise makes great gifts for teachers and therapists!

Additional Vendors that Give Back:

2023 GRIN2B Calendar – featuring 61 GRIN2B individuals.

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)

Littlest Warrior Holiday Gift Guide

A Very Special Needs Christmas Holiday Gift Guide

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

Celebrating Rare: The GRIN2B Podcast, Episode 7

By Phil Ash, GRIN2B Foundation Board Member

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.