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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 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

So Your Child Received a GRIN2B Diagnosis; What’s Next?

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

In our Private GRIN2B Parent Support Group on Facebook, a parent recently commented that most GRIN2B Parents have read the blog post I wrote back in 2016 – To the Person Who Just Googled GRIN2B For the First Time. I don’t know if that’s true, but, regardless, it’s an immense responsibility and privilege to know that my words are impacting newly diagnosed families. It’s why I wrote the article in the first place, but it’s quite another thing to hear someone else say it.

In 2016, I wrote to give future families hope. 

I wanted more families to find us and know that we were getting organized. I wanted families to have what I didn’t have – a soft place to land when they received the diagnosis for their child. We’ve accomplished that, and families from all over the world have found us. 

Now I’m writing to tell you what to do next. A lot is happening in our community in the coming year, and I want you to be prepared and know how you can participate.

Two of the events we’re most excited for in 2022 are hosting our twice-postponed GRIN2B Family Weekend in July 2022 and launching the first ever Center of Excellence for GRI Disorders! 

The Family Weekend will be July 15th and 16th, 2022 at the Hyatt Regency O’Hare, just minutes away from O’Hare Airport in Chicago. We’re planning an amazing two days for families, full of GRIN2B updates, resources and as many opportunities for families to connect and bond as we can squeeze in. 

The Center of Excellence is an idea we have been working on since late 2019. Working with input from the team at Cure GRIN Foundation, this Center will be a place where all patients with GRIN, GRIA, GRIK and GRID Disorders can go to see a Team of experts. We are still finalizing the details, but the first Center will hopefully open in Spring of 2022 in Denver, Colorado. Our dream is to open more Centers around the U.S. in future years, though that will be dependent on increasing our fundraising. More to come soon!

Excitingly, we are also finally on the precipice of our first clinical trial! In case you missed the news, the newly formed GRIN Therapeutics is launching a clinical trial for the drug Radiprodil in 2022 for GRIN2B patients with a Gain of Function variation. If you’re not sure what Gain of Function even means, you can get a simple definition at the bottom of this page. Or read this blog from Dr. Tim Benke.

Or, follow along for my quick and dirty explanation.

  1. Your child receives their diagnosis. Their genetic report will list the details of your child’s specific variant. (Example: c.1146 G>A) This page helps explain the different types of variations that can occur and how to read your child’s genetic report.
  2. Each variant is then going to be further classified as either Gain of Function or Loss of Function. 
  3. Different medications will be recommended depending on which type of classification your child falls into (Gain or Loss). 
  4. As previously mentioned, the upcoming Radiprodil clinical trial is only for Gain of Function patients. There will be additional trials down the line for Loss of Function patients.

We are working with the team at GRIN Therapeutics to help design this upcoming Clinical Trial and determine the best locations to have trial sites. But to do this, we need to know which patients are classified as Gain of Function. And for that to happen, we need every GRIN2B patient to be enrolled in the GRIN Variant Patient Registry.

So, if you haven’t already, please do the following:

  1. Enroll in the Registry
  2. Once enrolled, your child’s variant info will be sent to the Center for Functional Evaluation of Rare Variants (CFERV) at Emory University where they will perform the functional analysis to determine if the variant is Gain or Loss.
  3. If the variant is found to be Gain of Function, start thinking about the possibility of enrolling your child in the upcoming clinical trial.

Feeling overwhelmed yet? It’s complicated for me to explain, so I imagine how this must feel to newly diagnosed families. Our Family Advisory Committee is currently working on developing Welcome Packets and Checklists for our Community to help get you started on the right foot. In the meantime, I’ve created some helpful checklists below. Keep in mind, these lists are not all inclusive. Think of this post as merely a starting point, and know that something more comprehensive is in the works.

Please, please, pretty please put these at the top of your list (if you haven’t already done them).

  • JOIN the Family Contact Registry for GRIN2B Foundation. This puts you on our organization’s mailing list. It also gives us a general idea of how many families we are supporting and where everyone is located.
  • ENROLL in the GRIN Variant Registry (See all the reasons I mentioned above.)
  • JOIN our private GRIN2B Parent Support Group (if on Facebook) to connect with other families – we’ve got an incredibly welcoming community! (Be sure to answer our questions when you request to join or we cannot approve you.)
  • FOLLOW us on Facebook, Instagram, Twitter and YouTube

Other things to keep on your radar and do when you can, if you can.

  • Start educating yourself on the clinical trial process. Read this blog and watch these webinars.
  • Save the Date for our Family Weekend July 2021. (We will have Travel Stipends available and registration will open early 2022.)
  • Enroll in Simons Searchlight’s GRIN2B study.
  • There are more research studies in the pipeline. Keep an ear out for new opportunities.
  • Fundraise for us, or consider making a monthly or one time donation. We see our GRIN2B families as families first and foremost and NOT as donors. That being said, GRIN2B is not really the type of disorder that is going to get donations from random, rich strangers. Our biggest donors are either families themselves or friends and relatives of GRIN2B patients. We have a lot going on in the coming years, and we are going to need the community to participate in fundraising. You don’t need to throw a fancy gala. We have so many easy ways to fundraise for us listed on our website. The truth is, we cannot keep working at this current pace without more fundraising support.
  • Let us know if you want to get more involved. We’re always looking for people skilled in the following areas – Fundraising, Legal, Financial, Marketing, Science/Medical. Email me at liz.marfia-ash@grin2b.com.

Resources to help you and your extended family. (The holidays are a great time to share these resources with loved ones who may be interacting with your family.)

Recommended blog posts. (They’re short and easy to digest and should feel relatable.)

If the above lists have you feeling stressed out, take a deep breath. And then sit and think for a second about how none of these programs, clinical trials, future centers of excellence, resources, fundraisers and support groups existed seven years ago. We have so much to be thankful for. “I don’t have to chase extraordinary moments to find happiness – it’s right in front of me if I’m paying attention and practicing gratitude.” – Brene Brown

Ashley Reid, a GRIN2B mom on our Family Advisory Committee recently shared an amazing testimonial about our organization.

“Whether we are looking for community, advice, the latest research studies or just to feel less alone, the GRIN2B Foundation makes room for everyone.”

BEE ICONMaking room for everyone is at the heart of our Foundation. Everyone comes to us at a different place; some have babies who are being diagnosed, and some are finally putting a name to what their adult children have lived with their entire lives. There is no right or wrong way to process the diagnosis or get involved with our community. But, for those who are ready to get involved in whatever way possible, this blog is the resource you are looking for.

There’s truly no rush to do everything at once. Just do the next right thing.

When Vacations and GRIN2B Research Collide

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Vacation. Hotels. Kids. Time away. These phrases evoke feelings of fun, activities, and relaxation for parents and families desperate for a break from the rat race. It’s harder for me to feel the same way. Vacations for my family are the ultimate wild card. I never know how our three kids, ages 2, 6 and 9 are going to react to a change in the routine. My wife and I have experienced getaways that swing wildly from fun to chaos, and back. Some have gone okay, others have been cut short. Not knowing how vacations are going to go or if our non-verbal daughter is going to enjoy herself are big stressors for me.

Our recent family getaway at the end of June was different. We took a 4 hour road trip from Chicago to the University of Michigan, Ann Arbor to visit the lab of Samuel Kwon, one of many GRIN2B researchers. Sam is an Assistant Professor and, according to his website, “studies mechanisms underlying neuronal dynamics and plasticity.” Don’t worry, we didn’t really know what that meant either. 

We had met Sam and his wife at the GRIN2B Foundation Family Conference last year and had kept in touch ever since. My wife, Liz, our Board President, came up with the idea to combine a family vacation with a visit to the University of Michigan, and Sam graciously agreed to give our family and the Crider’s (another GRIN2B Family) a tour of his lab. For us, this was more than just an overnight trip. We were going on a journey to see first-hand, important research regarding GRIN2B-Related Neurodevelopmental Disorder. What’s more, we would be going with a built-in support system in the Crider family: Brittaney, Mike and their two kids. 

During most vacations, our family is always the outlier. When things go wrong or when breakdowns occur, it can feel like we’re alone on an island. But having another GRIN2B partner family and a group of passionate researchers excited to see us calmed my anxiety and helped create a great getaway for everyone in our family. Like dorks, every member of our two families wore our GRIN2B t-shirts. Everywhere we went, people asked us questions about our “bee” shirts.

Our two families arrived at the University of Michigan and were met by Sam’s undergraduate research assistant (also named Sam!) who took us to the lab. Sam and his assistant gave us a brief presentation regarding their work and then took us on a tour of their impressive, extensive laboratory. 

If I’m being honest, the minutiae of what Sam is doing was well over my head, and for good reasons. The research presentation was given in a small conference room with 5 children all under the age of 9; including our 2-year-old son who spent his time running around doing 2-year old things! In spite of the distractions, I was humbled by their passion and excitement to see us. Their PowerPoint presentation included citations from our website, www.grin2b.com. This may not seem like a big deal, but as an educator who recently finished his Masters Degree, it was so satisfying to see a group of brilliant researchers citing a website I helped create. The lab was extensive and it was a bit strange actually seeing the research mice. (Don’t worry – we’ll share more specifics about Sam’s lab towards the end. Keep reading!)

Sam and his family could not have been more gracious and patient with us. They were excited to speak with us and spend time with our families. Following the tour, they took us to lunch. After we bid them goodbye, the balance of the day was our own. Our family and the Criders went to a children’s indoor playground, had pizza in the hotel and then spent some time with the kids by the pool. Normal family stuff, but for me, this time it was free from the usual anxieties. Our kids behaved wonderfully, but having another family with us that also experiences the highs and lows that come with a GRIN2B diagnosis made all the difference. 

Hopefully, this was just the first of many research road trips we will take!

If you were thinking you’ve heard of Sam Kwon before, it’s probably because he recently became GRIN2B Foundation’s Science Director! We were so impressed with his passion and expertise at our visit and knew we’d finally found the missing piece of our organization. Our Board was thrilled to offer him the position earlier this month, and he is already more than proving this worth by organizing our first grant cycle. Read Sam’s bio here http://grin2b.com/medical-advisory-board/

Between the science being over our heads and having to wrangle 5 children, ages 2-9, none of us adults were really able to take notes during this visit. We thought it was best for Sam to explain his work himself so here are his answers to our follow-up questions:

Samuel Kwon, PhD

How long have you worked for the University of Michigan? Tell us a little bit about your lab.

I have been working at the University of Michigan since January 2018. That is when I started my own lab after several years of postdoctoral research at Johns Hopkins. The research in my lab focuses on how nerve cells in the brain process sensory information and how this process is altered in humans carrying mutations in autism-related genes. My lab is especially interested in how brain cells change over time as a new knowledge or skill is learned. This is called ‘neural plasticity’. We leverage the fact that mammalian brains are similar across species and use mice as a model organism to study neural plasticity in the cerebral cortex of health and disease. We can train mice to perform simple behavioral tasks while monitoring and manipulating individual brain cells using state-of-art microscopic tools. 

How did you become interested in studying GRIN2B?

In April 2018, I had the privilege to attend the scientific meeting organized by Simons Foundation, which provides a major support for my current research. The meeting was heavy on genetics of different neurodevelopmental disorders. Although I am not a geneticist, it was obvious to me that a set of genes required for proper signaling between nerve cells were strongly linked to various neurodevelopmental conditions. Grin2B was consistently one of them, but I didn’t look into it any further. Two months later, my wife and I found out that her 3.5-year-old nephew in South Korea had been diagnosed as having a Grin2B neurodevelopmental disorder. It took three years to find out since the time where his parents first started noticing severe developmental delays such as motor deficits and intellectual disability, because a Grin2B mutation is extremely rare in South Korea or anywhere in the world. To connect with other GRIN2B families, I attended the first GRIN2B Foundation Family Conference in September 2018. It was an invaluable experience for us at both personal and scientific levels. By talking and listening to other families, I learned a lot about the challenges that GRIN2B parents face daily as well as practical tips that could improve the quality of life of both parents and their children. The conference included research presentations by world-renowned neuroscientists. Inspired by these presentations, I decided to launch a research project in my own lab to investigate how Grin2B mutations impact neural circuits in the brain.

Tell us (in layman’s terms) about your work on GRIN2B.

A common hallmark of children with GRIN2B neurodevelopmental disorders is a motor dysfunction. We aim to understand how variations in GRIN2B impact the neural circuit for motor function using mouse models of GRIN2B variants. Specifically I will focus my effort on determining the time points when therapeutic interventions for motor dysfunction need to be focused. From there, I will expand our research directions toward a better understanding of how Grin2B mutants contribute to specific pathological hallmarks including sensory and cognitive impairments. We hope that this research would accelerate the availability of treatments for Grin2B-related syndrome. 

What do you hope to learn from your mouse models?

We have been using a mouse model in which the level of GRIN2B can be reduced in specific brain cell types. This is called a ‘conditional knock-out’ mouse. I obtained this model from Professor John Gray at UC-Davis. One of the experiments being performed in my lab is to reduce GRIN2B in different areas of cerebral cortex and test its impact on motor function. In parallel, we are creating a ‘conditional rescue’ mouse in which GRIN2B can be switched on in specific brain cell types by the experimenter, at any point in time throughout development. With these resources, we would be able to experimentally modulate GRIN2B in specific brain areas at different time points and monitor its effects on behavior and brain function in living mice. These efforts will enable us to determine if there is a ‘critical period’ in which a normal level of GRIN2B is essential and will provide an important scientific framework for therapeutic approaches.

 

Celebrating Rare: The GRIN2B Podcast, Episode 3, Part 2

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello again! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and host of Celebrating Rare: The GRIN2B Podcast. Here is the second part of our 2-part episode of Celebrating Rare, featuring GRIN2B parents Brittaney and Mike Crider. The first part discussed Brittaney and Mike’s seven year old daughter Natalie, her personality and the family’s journey to a GRIN2B diagnosis for her. Now, in the second part of the episode, Brittaney and Mike discuss how they both discovered and created their new “normal” for Natalie, her younger brother Mikie and themselves. It was a wonderful discussion with two amazing people, and I hope you find it interesting and motivating.

The Crider Family

 

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. My goal is to continue having parents as guests on the program as well as medical researchers. If you’d like to be a guest or have suggestions for future guests, reach out!

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.

What’s Self-Care Got To Do With It?

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

Prepare yourself for a deep dive into the varying ways some of us in the GRIN2B community are taking care of ourselves (or not really taking care of ourselves).

When the members of the GRIN2B Foundation Board met to plan our 2nd GRIN2B Awareness month, we brainstormed additional topics to cover other than just sharing GRIN2B facts and pictures of the kids. We noticed there had been some recent talk in our community about both self-care and our biggest fears as our kids get older. Not exactly sure where these questions would lead, we created a survey for the GRIN2B parent community. 70+ people answered our question about self-care.

Not shockingly, we’re not doing all that much when it comes to taking time out for our mental health.

We had a multiple choice question with 11 options for self-care. Parents were able to check off however many applied to them. Here are those results: 

  1. Support group, online (39%)
  2. Exercise (39%)
  3. Friends who can relate (30%)
  4. Hobby (27.5%)
  5. Respite care (26%)
  6. Therapist (20%)
  7. Massage (16%)
  8. Support group, in person (8.7%)
  9. Read self-help books (5.8%)
  10. Mediation (5.8%)
  11. Essential Oils (5.8%)

 

Additional write-in options were: Taking walks with the dog, baking, paint/illustrate, listen to music, books/tv series, talk with family and colleagues, take cbd oil, travel, work with special needs children, golf, tennis, wine, nature, retail therapy, nail & hair appointments and a few said “nothing.”

After looking at these results, I thought it would be great to hear more in depth from families. What were they doing specifically and why did they choose that? What is self-care anyway? We asked on social media for a few brave individuals to share their stories with us. To be honest, I wasn’t sure anyone would respond. I received a submission right away from an amazing Mom named Zoe. Her story (which will appear towards the end along with a few other stories) was all about the wonderful advocacy work she is doing at her daughter’s school, in her community and in organizing the European GRIN2B conference.

I excitedly shared her story with my husband, and he looked at me like I was crazy.

“Everything she’s doing is amazing, but that doesn’t sound like self-care. That all sounds stressful.”

“It is self-care,” I insisted.

I explained that being an amazing advocate is her form of self-care. I certainly can relate to that. My husband reluctantly agreed, but still seemed unconvinced. I thought about this conversation all day and here are the conclusions I finally came to.

Self-care is different for everyone. It’s very personal.

And the biggie…

Self-care is work!

It’s not as simple as just setting aside time to relax and do something fun (though it totally can be if that’s what you need).

But in large part, self care is a choice. And. It. Is. Work. It is work to carve out any time in our intense schedule of dealing with the complexities of caring for a child with a very rare disorder. It is work to ask for help. It is work to find a therapist or a support group or respite care.

For many of us raising kids with complex needs, we can’t necessarily just hire the average teenage babysitter. We need qualified, trusted caregivers. As my daughter gets older, this gets trickier and trickier for us. We have trusted family members who can babysit, but we’ve been saying for ages we need to take the time to properly interview people who are skilled at caring for kids with disabilities. My problem is less that I can’t afford qualified childcare (though I’m not exactly rolling in piles of dough here) and more that I do not have the time to interview people. (Shameless cry for help – if you know someone or are someone qualified to care for my daughter (and her two crazy brothers), message me, please!) We live in Illinois where respite care options are slim to none. If you are lucky to live in a state or a country that provides respite care, I highly suggest you take advantage of it. Of course, this is assuming the respite care program is well-run and well-funded and the workers are people you can trust. Unfortunately, we know all too well that just because a program exists, doesn’t necessarily mean you can trust it.

I am especially aware that however hard it is for myself and my husband with our limited childcare choices, at least we have each other to rely on. We often take turns watching the kids so the other one can leave and take a break. I know there are single parents out there that this is doubly hard on. I wish I could say I have the perfect solution for all. Unfortunately, no one is going to magically fix this problem for us. Whatever our circumstances are, we have to think outside the box and find ways to take care of ourselves. Be brave, ask everyone you know and everyone you don’t know for help and suggestions. And, if you don’t get answers, wait a while, ask everyone again or keep looking for new people to ask. Just don’t give up.

But back to my original revelation – self care is work and that’s why most of us aren’t doing it! We’re just too dang exhausted to take the time to make a plan for this.

For my crazy workaholic life, I can’t easily just set aside time each week to take a bubble bath and read a book or get a massage. For me, it’s a LOT of little things I started doing over the last few years that have a cumulative effect of keeping me relatively functional.

Here’s what is working for me:

  • Since 2015, my husband and I have been attending a monthly Parent Support Group. From the moment we found out my daughter was not meeting milestones and we started making the rounds with multiple specialists, I started searching for a support group we could join. As we were undiagnosed at the time, there wasn’t anything I could easily find. I spent the better part of a year hounding every doctor or therapist, googling support groups, emailing people to find a group only to come up with nothing. Finally, one day, my husband and I ran into a therapist who had evaluated our daughter early on, and she recommended a group to us. We started going and haven’t stopped! We’ve made wonderful friends with other families in this group. It’s been truly life-changing.
  • I have a diverse group of local girlfriends who are all parents of children with different types of disabilities. They get it, they really get it. We all support each other and enjoy girl’s nights out. We also take turns hosting playgroups. It’s such a relief to go to a group playdate with people who totally get what it’s like raising a kid with a disability.
  • I see a therapist 1-2 times a month. Ideally, I’d go once a week, but the therapist I ended up picking has very limited availability and, truthfully, I do too. So, best case, I go two  times a month, but mostly due to my crazy schedule, it’s once a month. Could I get a new therapist who’s more available? Sure, but this is actually my 2nd therapist and I like her and she gets me and I kind of don’t really want to start over. My story is long and tiring to tell. The 1st therapist I went to was not a good fit so I quit going and then it took over a year to get back started up with a new one because, well…life.
  • I try to go to Pilates once a week. This is truly the only form of exercise I enjoy.
  • I have become a bit obsessed with inspirational quotes – especially ones from Brene Brown, J.K. Rowling, Maya Angelou and Ralph Waldo Emerson. I have bulletin boards at work and at home with quotes on them, and I stop and read some of them almost every day. I also love inspiring quotes on my shirts, especially the ones from The Gwendolyn Strong Foundation, Everykind and our Awareness shirts as well! One quote I fall back on a lot is from the movie (and book) The Shawshank Redemption – “Get busy living or get busy dying.” It’s a little trite, I know, but thinking of this quote is really the kick in the pants I need some days. Do I want to sit around and feel sorry for myself and just give up, or do I actually want to just move forward? Onward and upward! 

  • We signed up last Fall for a grocery delivery service – this has been a GAME CHANGER for us! We use Shipt for Target, but there are so many options out there. As a working mom, this is such a time saver!
  • I listen to music constantly. My daughter loves music, but is nonverbal and can’t really tell me what she likes. But we can tell by her demeanor if she likes a type of music. So, I act as her personal DJ often, trying different types of music out to see how she’ll react. Music is our go-to when we don’t know what’s wrong – we’ll turn on some uplifting music and have a dance party. We’ve had a lot of dance parties to “This is Me” from The Greatest Showman.
  • Writing is a really wonderful outlet for me. I’ve always loved writing and it’s been amazing to contribute so much to the Foundation. I don’t go anywhere without a notebook to jot down random thoughts, ideas, future blog posts, etc. Next up, I need to find time for more of my personal writing projects.
  • I love reading, but honestly don’t get to do it too much for pleasure these days. Most of my spare moments during the day are spent reading articles or blog posts related to disability, rare disease, nonprofits, AAC, genetics, etc. I might read a few minutes before I go to bed. I have a stack of articles to read and self help books on my nightstand, but usually need something light to read before I fall asleep. I usually just end up re-reading a Harry Potter book for the millionth time. Taking book recommendations!
    • Reading sub-topic: I was lucky that pretty early on in this journey, I stumbled across some amazing bloggers that helped form my views on disability and parenting a rare child. Some of these blogs were written by mothers of kids with all different types of disabilities and through reading their blogs, it led me to some pretty life-altering blogs written by people with actual disabilities. Hearing from the disability community itself is something I highly recommend! These perspectives taught me about important concepts that I had never heard of, such as ableism and presuming competence.
  • This one’s still a work in progress, but I’m working on limiting my social media time. Between Facebook, Instagram, Twitter and numerous email accounts, I often feel glued to my phone or computer. Social media is amazing for many reasons, but sometimes the constant barrage of information and connections overwhelm me and I need to take a step back so I can be more present in my life. I now limit some of the notifications I receive on my phone.
  • As Mary J. Blige sings, “No more drama!” It’s not always possible, but I try to be really conscious of allowing people with negative energies access to my life. Sorry, not sorry. I have a low tolerance for drama, even if it’s tangential. I limit my access to drama as much as I can and seek out people with positive attitudes.
  • My most critical mind-shift has been to try very hard to limit my pity parties to no more than one day. If my thoughts are spiraling, I might wallow in it for a day, but then I move on the next day. I realized pretty early on that focusing on the perceived negative aspects of my stressful life do not serve my daughter, the rest of my family or me at all. I make a conscious effort to choose joy. The only way I have been able to achieve this is to surround myself with positive messages (the aforementioned quotes, music, books and positive people).

The list above notwithstanding, keep in mind there are many, many things I am not doing, such as getting enough sleep, eating well, figuring out how to alleviate the chronic back pain from carrying my daughter around so much that has been slowly getting worse over the last year, keeping up with personal doctor’s appointments (see previous back pain comment), cutting myself some slack, going on date nights with my husband (this is mainly due to not having enough babysitters), going on vacations (what are those?) etc. Sigh, self-care is a process. And I’m exhausted from taking an honest look at all the things I do to take care of myself. It wasn’t until I asked this question and did some self-reflection that I realized the extreme effort I was putting in.

As I mentioned in the beginning, self-care is different for everyone.

We asked families in our #GRIN2B community to tell us what they were doing to take care of themselves and received submissions from two Moms, one brother and one Dad.

Thank you to Zoe, Tanja, Campbell and Phil for bravely sharing your stories with us.

By Zoe Costello, GRIN2B Mom, England

As a mother of a child with complex needs, the world you find yourself in is not the one you expected. Friends disappoint and disappear and you find yourself struggling with some of the hardest choices in life, pretty much on your own or maybe with a partner also struggling with the same thing. I am a fairly strong minded person, but I’d also done work experience with disabled children in a previous life and knew I did not have that vocation and thought I’d never cope.

How I’ve survived (and I’d like to think thrived!) is by being involved in my daughter’s community. I’m a volunteer governor at her school, so have strong links with the senior management team and I attend and now run a parent support group from the school so have strong links with the parent liaison officer and other parents. I also meet up with other special needs parents from my home town on a regular basis and I’ve now started to get involved with our local authority to become a parent advocate for our children. To top that off I’ve been fairly heavily involved with the GRIN2B community, helping to organise a European conference and keep connections between different people and organisations. All of this, whilst helping to keep me busy also gives me the knowledge I need to best support my daughter and has given me a group of different support networks, in my hometown, in school, and worldwide online. There is now always someone there on the end of the phone or messenger or Facebook to help and advise. I’ve learnt so much and more importantly am no longer alone, far from it!

By Tanja Vinther-Bjerg, GRIN2B mom, Denmark

I have become a triathlete. I have always been running and seen it as therapy where my thoughts could just fly away. Just mile by mile (kilometre by kilometre in Denmark).
In Denmark, we are fortunate to have a system that in our case offers help – so Noah is attending special school and every other weekend and 2 weeks a year he is in an institution where he loves to be and we can be a family without always having to deal with his needs. This and the fact that we schedule everything in a common calendar gives me the time to train alongside with my 40 hours a week job. And I love it and got my husband and Noah’s little brother onboard also. My big goal is Copenhagen Ironman in August. And I feel great, we embraced the help we can get and the fact that Noah loves his institution gives us peace of mind to follow our dreams and do the things we love.

I started last year and fulfilled a Half Ironman in 5 hours and 18 minutes + a lot of 1/4 distances. And I am hooked, on the training, the races and the fellowship in the tri-club we joined as a family. I do runs with my youngest and train in the mornings and evenings. It is a coordination,  but so worth it even though we often see each other in the doorway. I know we get breathers without Noah and we would absolutely die without this. I get more energy by using energy.
Who knows? The dream is to qualify for Kona one day. Believe in your dreams and sometimes they actually happen.

 

By Campbell, age 13, GRIN2B sibling, United States

I am a brother to someone who is affected by GRIN2B mutation. Life with someone affected by this disorder can be stressful, so you must have something that you do regularly to take care of yourself. Many people, for example, meditate, read, and watch stuff, among other things. Personally, I work out and play sports for my high school, joke around with my friends, play video games, you know, typical teen stuff. Many people do not realize the importance of even the daily, menial things in their lives, as those can make an enormous difference. Stress is hazardous to your health, and you should attempt to alleviate it, as it slowly accumulates and affects both your mental and physical health. People affected by a GRIN2B mutation should be cherished and loved, and given your utmost care, no matter how stressful and hectic life may seem.

By Phil Ash, GRIN2B parent, United States, Illinois

I know I do not do enough for myself or focus enough on my self care. I’m sure I’m not alone in this. My busy life and schedule does not really allow for much “me” time, so I try to find little moments throughout my day. I’m blessed with a job that I love and that gives me a lot of fulfillment. I teach high school students radio, television, and film. The job is stressful, it’s long hours and it’s hard work, but I love it. The moments of “me” time occur when I get to be creative and produce a video content for the school. The creative process, from writing, filming, editing and the satisfaction of sharing it to the school community is very fulfilling. In terms of more traditional relaxation, I enjoy listening to sports talk radio and podcasts whenever I can. I’m a fan of the Chicago Cubs and the Chicago Bears. During football season, I watch every Bears game and block out those 3+ hours. In the summer, I’m an avid golfer and I try to go at least once per week during the summer. Usually, I go during twilight hours, after I’ve helped feed the kids dinner. I also enjoy playing guitar and I’ll pick it up for 5-10 minutes, whenever the mood strikes. All in all, I think we all want more self care time, and I know I can use more. Since I became Lucy’s father, I’ve made more of an effort to make the above things a priority. Most of them require little self-sacrifice or sacrifice from my spouse. I think self care for special needs parents is possible if we all undergo a bit of a mind shift. I’m trying to stop thinking “oh, this might be nice if I was able to do this,” to “I need to make this happen for myself so I can be at my best for my family.”

For those reading that are the parent of a child with a GRIN2B variation (or maybe parent to a different kind of rare child), I hope you have come to realize one of the following…

  1. You are actually doing quite a bit to take care of yourself.
  2. You need to do much more and you’ve got some ideas now.
  3. You need to do more, you’re still not sure what to do, but you’re determined to figure it out.

And if you feel inspired and want to share your stories with us, let us know. We’d love to continue to feature brave stories of self-care from our community members.

Now, indulge me for a few more minutes and read this one last part. If you know me, you know I’ve always got more to say.

Talking about and acknowledging our lack of self-care is really important, but we have to keep it balanced. Yes, there can be tremendous stress placed on parents, caregivers and siblings of those with disabilities, and all our feelings absolutely need to be validated. But the truth is…it is so much harder for the people living with disability.

Us able-bodied adults and children have the luxury of being able to communicate our feelings and have empathy reciprocated back at us. We can ask for help easily. For kids and adults with limited ability to communicate, they may have no way to properly or easily process those feelings. And from having two neurotypical children, I can tell you that all children need A LOT of help processing and properly navigating their feelings.

All I’m saying is we have to be careful we don’t share too much of our hardships that it comes at the expense of our children’s dignity. It’s a fine line. I don’t pretend to be an expert on not crossing this line. I just try to be aware of it constantly.

 

Want to read about more self-care strategies? Check out the following links.

The Most Courageous Self-care Act: Learning to Say I Need Help by Shelly Tygielski

The Isolation I Feel as I Parent Kids With Disabilities, by Laurie McLean, featured on The Mighty

10 Ways to Set Yourself Up for Success, featured on Everykind blog

And check out this free resource to help you gather info about your child for respite care providers:

https://www.childneurologyfoundation.org/programs/respite-care/

 

Celebrating Rare: The GRIN2B Podcast, Episode 3, Part 1

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of the GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this episode, the podcast takes a bit of a turn for the better (at least I think). I welcome the first guests to the program. The hope is that most future episodes will feature guests. I want to host both parents and prominent medical professionals so listeners can gain different points of views and perspectives regarding GRIN2B variations. This episode features Brittaney and Mike Crider. Brittaney and Mike are the parents of 7-year-old, Natalie, who was diagnosed with GRIN2B in 2016. Brittaney is also a Founding Board Member for GRIN2B Foundation. The conversation went very well and lasted quite a long time, so I thought it would be prudent to break it up into two parts. In this first part of the episode, Brittaney and Mike discuss who Natalie is as a person, provide their story of how they discovered Natalie’s GRIN2B variation and reflect on how living with a GRIN2B diagnosis has changed them.

Brittaney and Mike Crider at the 1st GRIN2B Foundation Family Conference, September 2018

I should also note that Brittaney and Mike specifically mentioned board President Liz Marfia-Ash’s first article on The Mighty about GRIN2B, and how it helped their family cope with the initial diagnosis. You can read that article here. I hope it will continue to help future families discover our organization and realize they are not alone! We’re here to help and provide support!

Check back in a few days for Part two of my conversation with Brittaney and Mike!

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.

Celebrating Rare: The GRIN2B Podcast, Episode 2

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member for GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this latest episode, I share my personal thoughts and reflections from GRIN2B Foundation’s first family conference, which took place on September 21st and 22nd in Atlanta, Georgia. We are working on a written recap as well and are still gathering and editing content provided to us by our Researchers, Board Members and Parent Attendees. We will share this written recap in the next few weeks, hopefully!

Just like before, I have a few corrections and updates to share with you. First, I managed to mispronounce our lovely Board member, Carole Quennessen’s last name. It’s correctly pronounced KEN-ES-SEN. Sorry, Carole!

Also, I am pleased to share that Simons VIP Connect is working on re-branding and revamping their website, and they plan to add many languages to the site over the next year. As soon as this new website launches, we will share this with our community. This is truly exciting news as it will help international families connect with Simons and share their family data to their medical registries. Increasing the amount of GRIN2B patient data within these medical research databases is vital to furthering research and developing possible treatments in the future.

If you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

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

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

Leighton in a raincoat

Three Things You Need to Parent a Child with Special Needs

By Guest Blogger and Parent Advocate, Christina Dyck

June 17th – 23rd, 2018 is Rare Chromosome Disorder Awareness Week. In conjunction with this week, we are celebrating Bee Happy Day on June 19th. This is our 2nd time celebrating this day after being organized last year by Mom, Christina Dyck. We are honored to have Christina write this guest blog for us.

When our daughter, Leighton, was two-and-a-half years old, we finally got her diagnosis: a chromosomal deletion, including the gene GRIN2B. It was a long journey to get the diagnosis. I remember crying in bed one night, telling my husband, “I don’t know how to be a mom to a child with special needs.” I remember my husband’s response clearly. “But you’re already her mom.”

People from all walks of life parent children with special needs.  We have parents in our Facebook parent support group from all over the world. Special needs don’t discriminate. You don’t need a university degree or a “Parenting Special Needs 101” (Seriously…someone write that. I could use a copy.). There are a few things that come in handy when parenting a child with special needs.

1. A Tribe
Whether it’s an online support group, a Mom and Tot play group, or a group of ladies or guys that meets once a month, find someone. You will need a group of people you can talk to. People who can celebrate with you when your child meets milestones that most parents don’t even remember. People who you can talk to on the hard days who will “get it”. No judgement, just love. Although I haven’t met any of the people in our parent support group in person, I feel like I know so many of them. I hurt with them when they’re having bad days. I tear up when the parents post a new accomplishment for their child.

2. A Sense of Humour/Positive Attitude
There are going to be many days you will want to throw in the towel. Most parents have experienced days like this. With special needs, though, the future may seem daunting, and stages feel like they will never end. You will need to find the funny in situations. You will need to find some positives.
Some examples:
-Yes, my daughter had a meltdown in the grocery store AGAIN, but it lasted half as long as last time, and there were only 20 other people in the store.
-Yes, she hit someone AGAIN, but she used words! “I don’t like that, don’t do that.” Seven words!

3. Extra Room in Your Heart
Kids with special needs have a way of wiggling themselves into your heart. Leighton tends to seek out people who aren’t necessarily “kids people” and hang out with them until they love her. She gives the best hugs and snuggles. She can make me laugh like nobody else. I could never count the amount of people she’s made smile.

With the right support and the right attitude, you will not only survive, you will thrive. Your child with special needs will make you a better person, and you will start to see strengths in yourself you never knew were there.

I’m not saying parenting a child with special needs is easy. It is FAR from easy. It is the hardest thing I have ever done. What I am saying, is that you can do it.

Christina Dyck is a domestic engineer, and a mom of three: Paisley June (9), Leighton Capri (7), and Griffin David (the *lovely* age of 3). She and her husband, David, their children and Winnie the dog call a small town in Saskatchewan home. Lover of coffee and all desserts, Christina enjoys watching reruns of The Office and playing Candy Crush in her non-existent spare time.

Celebrating Rare: The GRIN2B Podcast, Episode 1

Celebrating Rare: The GRIN2B Podcast, Episode 1

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

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

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

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

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