Two Disabled Dudes Podcast

Thanks to the AVROBIO team for a great day of patient advocacy. We feel so honored to be a part of these conferences and always take so much away from them.  And a huge thank you to panelists Jordan, Darren, and Kim. Gene Therapy treatments have the potential to make a profound impact in rare disease. However, these potentially permanent therapies present unique considerations for any participant in clinical trials. When we were presented with the opportunity to moderate a panel of people who either participated in gene therapy studies or had extensive knowledge to share on this topic, we jumped on it! AVROBIO’s vision is to bring personalized gene therapy to the world. They aim to prevent, halt or reverse disease throughout the body with a single dose of gene therapy designed to drive durable expression of therapeutic protein, even in hard-to-reach tissues and organs including brain, muscle, and bone. AVROBIO’s ex vivo lentiviral gene therapy pipeline includes clinical programs in Fabry disease, Gaucher dise

The Marfan Foundation is currently celebrating 40 years of service to patients and families affected by Marfan Syndrome and other related conditions. We had the honor of participating in their 36th annual conference with a virtual discussion featuring 4 panelists who have each been significantly affected by rare disease.  Marfan syndrome is a genetic condition that affects the body’s connective tissue.  Connective tissue helps to hold the body’s cells, organs, and tissues together and also helps to control how the body grows and develops.  There are several disorders related to Marfan that cause people to struggle with the same or similar physical problems, and anyone affected by these conditions needs an early and accurate diagnosis. Please visit www.marfan.org for more information about Marfan, Loeys Dietz, and Vascular Ehlers Danlos Syndrome. Listen as Leah, Adrianna, Kristy and Micah share openly about their vastly different experiences but also their shared and wildly optimistic, fulfilling lives, despit

Old men know a lot.  Combined, these two Dudes have 37 years of experience living with Friedreich's ataxia/rare disease/disability, and we made some observations along the way. In this episode, using an idea we found in our friend, Kendall Harvey's column on Friedreich's Ataxia News, we explore what we would say to our newly diagnosed selves.   It's a very emotional episode and we hope you find value in it.

Anthony DeVergillo describes himself as an optimist.  He sees a problem and inserts himself to find a solution. Specifically in the area of video game accessibility, Anthony is motivated to make an impact with the joystick he invented to allow people with disabilities access to the games they love.  The project is called Overjoyed. Listen to our interview with Anthony and get motivated to improve the world around you as Sean tries to wrap his head around airplane accessibility. Links: Anthony's Interview for The Playability Initiative. Anthony on social media: Twitter LinkedIn Connect with Anthony and others: https://ourodyssey.org/

Describing our challenges to another person is a powerful way to face them and find a way to think around them so these challenges don't become a roadblock in our lives.  The Dudes feel fortunate to have each other to share with and to have you listening! Discussion questions provided by Branding Science

August is SMA Awareness Month so we had a conversation with Nick Sinagra to learn about SMA and his journey with this rare disease.  Nick is a true leader for all the things he has accomplished and continues to accomplish, and for the attitude he brings to all that he does.  Plus hear about Nick's experience with Spinraza, a drug developed and FDA approved to treat SMA.

This was the 43rd annual National Taysachs and Allied Diseases (NTSAD) annual conference and we were honored to moderate a panel with Sarah, Kevin, and Staci. The video that Sean referenced near the beginning of the episode: https://www.youtube.com/watch?v=XFEXsquCA8U Learn More about the family conference at https://ntsad.org/index.php/2021-annual-family-conference More about NTSAD at https://ntsad.org

User reviews and social media can be used to affect change in business and society.  It gets out of hand when users take advantage of the power that is in their hands.  Listen as the dudes discuss Social Media and this new thing called Bluetooth. Check out We Need a Mouse for a positive use of social media by our friend Luke Rosen and KIF1A.

Season 6 starts now with the introduction of a new segment called 'Picks for Season Six'. Today the Dudes pick their favorite podcasts of the moment. Kyle: Conan O'Brien Needs a Friend Sean: At the Table with Patrick Lencioni Sean and Kyle talk about some of the things they've been up to this summer which leads to some observations about specific areas of life the pandemic has affected.  Enjoy!

Sean just turned 40.  Happy Birthday Sean!  Kyle turns 40 in a few months.  This milestone brings a question into focus:  What if the treatment or cure for FA doesn't come in our lifetime.  Listen for thoughts from the dudes.

Aaron Smith is uncomfortable on stage as himself, but as the King of Rock and Roll he owns the stage. Aaron was bullied when he was young because he was different than other kids.  He didn't care about the same things and sometimes he didn't say the right things.  His mind was somewhere else. Somewhere along the way he fell in love with the idea that people made a living from impersonating Elvis Presley.  He gave it a shot and he was hooked.   Listen as Aaron talks about becoming an Elvis tribute artist amidst the challenges of living with autism. Connect with Aaron: https://www.facebook.com/AaronElvistribute Learn more about Autism: https://www.autismspeaks.org/

The Top 5 Pet Peeves get Sean a little worked up so he continues with a rant about his gym and accessibility.  A conversation with the manager leaves Sean unsatisfied because he's not confident anything will change as a result of his feedback.  He wants everyone to know that he remained calm during the interaction.  We'll count that as a win!

Tim Walbert is CEO at Horizon Therapeutics. He has been at the helm as they've taken several products to market. Listen as he talks about the different aspects of drug development and pricing. Tim also lets the dudes know that perhaps Sean's face needs to replace Kyle's on the wall at Horizon.

As a clinical coordinator at Children's Hospital of Philadelphia (CHOP), Jen Farmer gained years of experience designing and operating clinical trials. Now as the CEO at the Friedreich's Ataxia Research Alliance (FARA) she uses that experience to design effective trials for the Friedreich's ataxia (FA) community - and she nicely puts Sean in his place when she states "the rules are there for your safety". Jen shares the principles that guide clinical trials and a few tips for those who choose to participate. FARA - curefa.org

The pre-clinical stage of drug development is largely about safety - answering the question 'will a drug be well tolerated in people?' However, Kristina Bowyer of Ionis Pharmaceuticals helps us understand that the patient voice should be integrated into every stage of the process, including pre-clinical. Plus, Sean loses his focus. Enjoy!

John Crowley is the CEO of Amicus Therapeutics.  He is also a funny and compassionate rare disease Dad.  Join us as we learn life lessons and how to start a company - and Sean learns that a million is quite large. Amicus Therapeutics: https://www.amicusrx.com/ Extraordinary Measures (John's story), starring Brendan Fraser and Harrison Ford: https://g.co/kgs/u7uFgw

This is the LAUNCH of the Two Disabled Dudes Drug Development Series.  We have 5 experts lined up to field our questions about the process and how we as patients can insert our influence. This episode is an overview of the Drug Development Process which helps us understand how to avoid spending half a billion dollars on a dead end. Barbara Tate is the Chief Scientific Officer for the Friedreich's Ataxia Research Alliance (FARA).  She has an impressive resume and a great sense of humor. She went from academic science, to big pharma, to venture capital, to nonprofit, and now she graciously shares her knowledge and wisdom with us.   Our next episode features John Crowley who is played by Brendan Fraser in the movie Extraordinary Measures. 

How do we build an effective Global Rare Disease community?  It all starts with sharing stories and ideas.  Join the dudes as they hear Manish Gore's story about Alport Syndrome, and discuss the differences between the US and India and the Rare Disease World.

A few weeks ago, Sean read an engaging article from the Huffington Post called How to Know if You're an Interrupter or a 'Cooperative Overlapper'.  The discussion of this article lead to an exploration of issues on the endless video conference calls that have become a big part of our lives lately. Kyle still thinks the term 'Cooperative Overlapper' is just a made up term to make Sean feel better but you be the judge.

We sent Shelley a 2DD 2021 Desk calendar.  She sent back pictures of her brother.  That sparked a heartfelt conversation about her family and some of the experiences in her life with her brother Jeff.  Join us as Shelley shares her experiences - you may end up with a perspective that makes you a better person. Shelley Bowen is the Director of Family Services and Advocacy for the Barth Syndrome Foundation: barthsyndrome.org