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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.

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 Board meeting

How GRIN2B Foundation Came 2B

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

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

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

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

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

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

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

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

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

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

This is Donna’s story in her own words:

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

-Donna Campbell Dunn, GRIN2B Foundation Vice President

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

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

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

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

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

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

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

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