Explorez tous les épisodes du podcast The GRIN2B Foundation's Podcast

The goal of this episode is to define ableism, name it in its various forms and reflect upon the times when we have all perpetuated ableism both in society at large and within the rare disease space. I promise my listeners that this episode will be very informative and probably uncomfortable at times to hear. But I encourage you all to lean into your discomfort with the knowledge that you will come out on the other side better for having experienced it and better able to be active allies for your disabled loved ones. As part of this episode, I am thrilled to welcome Ashley Eisenmenger, a disability inclusion specialist, and disabled triathlete. She will offer her unique perspectives on Ableism and how she experiences its effects both big and small.

**WARNING: This podcast contains frank statistics involving physical and sexual abuse of disabled people. Listener discretion is advised.

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 closes out 2021 by welcoming GRIN2B Foundation President and founder Liz Marfia-Ash. Liz reflects on the year that was while also previewing three exciting initiatives GRIN2B Foundation is taking on in 2022, including a potential 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.

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.

Hello! In this episode of Celebrating Rare, host Phil Ash helps newly diagnosed parents of children with GRIN2B-Related Neurodevelopmental Disorder understand the basics of genetics. This will help parents interpret their child's genetic report in order to create a plan forward both medically and holistically.

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.

Hello! In this episode of Celebrating Rare, host Phil Ash interviews GRIN2B Foundation Science Director Dr. Samuel Kown about his in-depth research into and personal connection with GRIN2B-Related Neurodevelopmental Disorder.

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.

Hello! In this episode of Celebrating Rare, host Phil Ash interviews GRIN2B Foundation Grant Recipient Dr. Caitlin Hudac about her exciting, upcoming work with GRIN2B-Related Neurodevelopmental Disorder.

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.

The second part of episode 3 continues our discussion with GRIN2B parents Brittaney and Mike Crider as they discuss how they discovered and created their new normal of living a life with their daughter Natalie and her GRIN2B variation.

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.

In part 1 of episode 3, Celebrating Rare is joined by parents Brittaney and Mike. They discuss their daughter Natalie's journey with GRIN2B and reflect on how living with a rare genetic disorder has changed them as parents and as people.

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.

In this episode of Celebrating Rare, the GRIN2B Podcast, host Phil Ash shares his personal reflections on the GRIN2B Foundation Family Conference, which took place on September 22, 2018 in Atlanta Georgia.

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.

In its inaugural episode, Celebrating Rare discusses the goals of the GRIN2B podcast and defines the rare genetic disorder that is GRIN2B. Host Phil Ash then discusses his daughter, Lucy and his family's journey to receiving her diagnosis. Finally, Phil discusses several treatment options for persons with GRIN2B.

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.