Category: Podcast

January 5, 2022

Celebrating Rare: The GRIN2B Podcast, Episode 7

By Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. The COVID-19 Pandemic continued to affect our families and our Foundation in 2021. In spite of its restrictions, we were busy laying the groundwork for three very important initiatives that are all happening in 2022. It only made sense to close out 2021 by reflecting on the year that was, and previewing the exciting things that lay ahead. To that end, I brought on a very special guest for this episode…my wife! Though that’s how I know her, the rest of you all know her as Liz Marfia-Ash, GRIN2B Foundation Founder and President. Liz reflects on the year that was while also discussing our 2022 happenings! These include a clinical trial for patients with gain of function GRIN2B variants, the opening of the first GRI Center of Excellence in Denver, Colorado and previewing our first in-person family weekend since 2018. Note – this episode was filmed in the final days of 2021.

We are so excited to bring these programs to you in this new year, and we need your help and continued support to increase our funding and reach with scientists and researchers! The only way we can do that is for all of us to do the little things, like completing paperwork for GRIN2B patient registries or by hosting fundraisers or family meet ups. No matter how big or small, each of these programs make a difference for all of our families. I hope you enjoy this episode and that you and your family have a happy and healthy new year. As always, if you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

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

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

May 4, 2021

Celebrating Rare: The GRIN2B Podcast, Episode 6

By Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. It’s been a while since a new Celebrating Rare podcast has dropped. I, like so many others, have had much to navigate throughout the course of the COVID-19 pandemic. However, during GRIN2B Awareness Week in March, I felt like it was finally time to get back on the podcasting horse in an ongoing effort to help provide support to our GRIN2B families.

In this episode, we dive into genetics 101 through the lens of a GRIN2B genetics report. Let’s face it, learning genetics and its terminology as it pertains to GRIN2B-Related Neurodevelopmental Disorder is not for the faint of heart. If you’re like me, and science does not come easy, it can be difficult to navigate all the questions you may have. For a newly diagnosed family, it can be scary to know where to begin and your emotions might be getting in the way of learning terminology and discovering answers. This episode seeks to provide simple information that is located on a typical genetics report families receive confirming the diagnosis of GRIN2B-Related Neurodevelopmental Disorder. My intention is to simplify this report and define as many terms as possible. I welcome any questions families may have – and there is no such thing as a stupid or silly question! We all don’t know what we don’t know, and I hope this episode can reframe the overwhelming topic of genetics into a way that’s easier to understand and digest.

I hope you enjoy this episode and be on the lookout for future episodes this year featuring additional parents, researchers and doctors. As always, if you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

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

January 15, 2020

Celebrating Rare: The GRIN2B Podcast, Episode 4

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this episode, I welcome in a new decade by recapping and putting a bow on 2019. What a year it was for our Foundation! We attended events, raised a lot of money and, perhaps most importantly, we completed our first research grant cycle! This past fall, we awarded $56,457 to Dr. Caitlin Hudac, an Assistant Professor at the University of Alabama. Dr. Hudac joins the podcast to tell us all about her exciting research regarding GRIN2B-Related Neurodevelopmental Disorder! During 2020, Dr. Hudac will be studying 25 GRIN2B patients and their EEGs in order to determine specific biomarkers related to the GRIN2B gene. Not sure what that means? Neither was I! Check out the podcast to hear Caitlin break it all down for us. GRIN2B Foundation is very excited about this work and the opportunities it will provide for furthering research into GRIN2B.

Dr. Caitlin Hudac, GRIN2B Foundation’s 1st Grant Recipient

  Read more about Dr. Hudac’s study here and learn how you can enroll.

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

March 31, 2019

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:

March 27, 2019

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!

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

October 15, 2018

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.

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.

March 31, 2018

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.