Once Upon A Gene

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The Rare Disease Film Festival

Rare Together, Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes Aug 26, 2020

Show notes

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

Dan DeFabio and Bo Bigelow founded The Rare Disease Film Festival and have just created The Disorder Channel, accessible through Amazon Fire and Roku. Their work is connecting patients and families, raising awareness and inspiring a lot of conversations.

Global Genes is having a virtual 10 day summit, September 15th - 25th, 2020. On September 16th, 17th and 18th, they're holding a watch party with Dan and Bo. This event is free for patients and advocates, so check it out!

EPISODE HIGHLIGHTS

Dan, how long did you think about creating The Rare Disease Film Festival and why did you want Bo to be a part of it?

Bo, what did you think you could add to The Rare Disease Film Festival?

Tell me about the first festival you had.

Bo, how did you feel after the first festival weekend concluded?

Due to the most recent event in New York City being cancelled, where did the idea to pivot into a tv channel come from?

How does someone create a film?

Tell us about the event with Global Genes that's coming up in a few weeks.

LINKS AND RESOURCES MENTIONED

https://www.rarediseasefilmfestival.com/

The Disorder Channel

https://www.thedisordercollection.com/

Global Genes

https://globalgenes.org/

A RARE Patient Advocacy (un)Summit

https://globalgenes.org/event/live/

ONCE UPON A GENE - EPISODE 015 - Films and Fatherhood

https://bit.ly/34xmJfH

ONCE UPON A GENE - EPISODE 028 - Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival

https://bit.ly/2YzhAQy

How To Make Your Own Rare Disease Film

https://www.rarediseasefilmfestival.com/blog/2020/3/2/how-to-make-your-own-rare-disease-film

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Donate https://slc6a1connect.org/donate-here/

Effisode - Let Me Tell You About My Big Brother Aug 25, 2020

Show notes

A Mother's Crusade to Find a Cure for Her Son - Amber Freed, Founder and CEO, SLC6A1 Connect Aug 20, 2020

Show notes

A Mother’s Crusade to Find a Cure for Her Son - Amber Freed

Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a disease too rare to have a formal name, referred to as SLC6A1. When Amber was told nothing could be done, she decided to fight. She left her career that day and shifted her focus towards a treatment. She's a leader in the rare disease community and is the founder of SLC6A1 Connect.

EPISODE HIGHLIGHTS

Give us a little background on the beginning of your journey as an advocate?

Tell us about your kids coming into the world and becoming a mom.

What started you on a mission to get answers about Maxwell's development?

What were the results of the genetic test?

Calling a scientist in Denmark was the beginning of your crusade. What has happened since then?

How much money have you raised so far?

What advice do you have for the listeners?

LINKS AND RESOURCES MENTIONED

SLC6A1 Connecthttps://slc6a1connect.org/

Contact Amber afreed@SLC6A1Connect.org

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https://chasingmycure.com/

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action Aug 13, 2020

Show notes

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action

David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease hunter, speaker, and author of the national bestselling memoir, Chasing My Cure: A Doctor's Race to Turn Hope Into Action.

EPISODE HIGHLIGHTS

Can you tell us about your diagnosis of idiopathic multicentric castleman disease (IMCD)?

What were your symptoms and how quickly were you hospitalized?

How did you eventually get a diagnosis?

What incentives need to be in place to encourage researchers and doctors to explore drug repurposing?

At what moment did you realize you had found a potential solution for you?

You created a first-of-its-kind program in memory of your mom for young people grieving the loss of a parent. Can you tell us more about that?

What can you share with people who are impacted by a rare disease that don't have a lot of patients, money or organization?

LINKS AND RESOURCES MENTIONED

Chasing My Cure

Actively Moving Forward

https://healgrief.org/actively-moving-forward/

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https://education.wsu.edu/undergradprograms/wsuroar/

Effisode 001 Aug 11, 2020

Show notes

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger Aug 06, 2020

Show notes

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger

Lisa Henniger is joining me to talk about Washington State University's ROAR program, which supports higher education for the disabled and neurodiverse. Lisa's son Evan, who has down syndrome, has always wanted to go to WSU and follow in the footsteps of his entire family. Evan was among the WSU ROAR program's first cohort in 2018 which has been a dream-come-true.

EPISODE HIGHLIGHTS

Can you tell us about your background and how you got involved in ROAR?

How does tuition work? Are there scholarship and grant options?

Was Evan one of the first students in the ROAR program?

What is the daily program like?

How much has this experience changed Evan?

Will Evan get a proper graduation?

Were the teachers who are involved with driving this program special education teachers before?

What are your words of wisdom for parents and caregivers when planning for their child's educational future?

LINKS AND RESOURCES MENTIONED

WSU ROAR Website

WSU ROAR Program on Facebook

https://www.facebook.com/WSUROAR/

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SYNGAP Research Fund Website

Time is Brain - SynGap Research Fund with Mike Graglia Jul 30, 2020

Show notes

Time is Brain: SYNGAP Research Fund with Mike Graglia

Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest.

Mike Graglia is a dad on a mission. His son is one of around 600 patients born with SYNGAP1, a rare neurological disease. Like many other rare disorders, like CTNNB1, SYNGAP1 affects the production of a protein. It's considered a spectrum disorder because all patients aren't affected the same way or to the same severity. After attending a Global Genes conference, Mike and his wife Ashley were inspired to turn hope into action and they founded the SYNGAP Research Fund. Their sole mission is funding research science for SYNGAP1.

EPISODE HIGHLIGHTS

Can you tell us about Tony's rare disease and how it affects him?

When did you get Tony's diagnosis?

When did you and Ashley decide to take action and do something when no one else was?

Can you tell me about your mission of collaboration, transparency and urgency?

What would you tell a parent who is motivated and inspired to do something like what you're doing?

LINKS AND RESOURCES MENTIONED

https://syngapresearchfund.org/

SYNGAP Research Fund Blog

https://syngapresearchfund.org/syngapblog

SRF - SynGAP Research Fund, Inc. YouTube

https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A/

Global Genes

https://globalgenes.org/

Contact Mike Graglia

mike@syngapresearchfund.org

The Disorder Channel

https://www.thedisordercollection.com/

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