Speakers

Virtual State-Specific Training and Networking Event Speakers

Daniel DeFabio
Associate Director, Community Engagement, Global Genes

Session: Mapping Out Your Experience

At the age of 12 months Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas’ story with a short documentary. That film led to Daniel co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases.

One of Daniel’s stories about Lucas won the 2015 Rare Patient Story Award from Global Genes. His award-winning 12 minute documentary on Menkes Syndrome is narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet’s first animated series. He has created videos and marketing materials for American Cinematographer, PBS, RightRice, bio-techs, hospitals, most major movie studios, TNT’s “The Closer” and HBO’s “Curb Your Enthusiasm” among others. He co-hosts Once Upon A Gene TV.

 

Rare Disease Leadership Interactive Webinar Speakers

Brenda Colmenares
Communications Manager, EveryLife Foundation

With a Master’s in Communications and years of experience as a radio producer and social media manager, Brenda enjoys finding creative and engaging ways to share stories.  In 2018, Brenda was diagnosed with Myasthenia Gravis, and wanted to shift her talents to the rare disease community.  Today, as the EveryLife Foundation’s Communications Manager, Brenda is able to combine her top interests into one — sharing stories that can truly make an impact in the rare disease community. Brenda will be speaking on “Let’s Hit the Road.”

Daniel DeFabio
Associate Director, Community Engagement, Global Genes

At the age of 12 months Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas’ story with a short documentary. That film led to Daniel co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases. Daniel has created videos and marketing materials for American Cinematographer, PBS, RightRice, bio-techs, hospitals, most major movie studios, TNT’s “The Closer” and HBO’s “Curb Your Enthusiasm” among others. Daniel will be speaking on “Tales from the Road.”

Timothy Harman
Young Adult Representative of RDLA (YARR)

Timothy Harmon is a 17 year old living with Cyclical Vomiting Syndrome (CVS). After being diagnosed with CVS in 2017, he started homebound learning for his first year of high school due to being too sick to go to school.  Growing up, Timothy faced the challenges of rare disease head on.  Living through misdiagnoses, being a caretaker to his mother who is also a rare disease patient, and multiple absences in school did not make things easy but Timothy persevered.  He is scheduled to graduate high school with honors this coming June.  Timothy is a member of the Young Adult Representatives of RDLA (YARR) and has attended multiple different lobbying days to ensure that other rare disease patients receive the treatment they deserve.  Timothy will be speaking on “Setting Out on the Open Road.”

Swapna Kakani
RDLA State Advocacy Fellow, EveryLife Foundation

Swapna was diagnosed at birth, 31 years ago, with Short Bowel Syndrome, a chronic GI rare disease. Swapna, a recent Master’s in Public Health graduate from The University of Alabama at Birmingham, is an accomplished speaker, advocate, and the RDLA State Advocacy Fellow at the EveryLife Foundation. Through her platform, “Swapna Speaks,” Swapna has presented on healthcare advocacy across the world, including a TEDx talk. In 2017, Swapna founded Alabama Rare, a grassroots state organization to unite Alabama around the rare disease population and increase awareness and advocacy for rare diseases in her home state. Today, she advocates at the federal and state level for the Short Bowel Syndrome community as well as the broader rare disease community. Swapna will be speaking on “Drive Change.”

Parvathy Krishnan
Foundation Alliance Manager, Global Genes

Parvathy Krishnan is the Foundation Alliance Manager for Global Genes. She earned her MS from Rutgers University, NJ and her clinical training from Mayo Clinic of Health Sciences, Rochester, MN. She has worked as a clinical dietitian at Duke University Medical Center and has gained experience in the nonprofit world from her role as a Patient Engagement/Advocate in NC. As a mom to two medically complex children (Yash and Ira) Parvathy is passionate in helping others find their voice and message. Parvathy will be speaking on “Let’s Hit the Road.”

Luisa Leal
Founder, Akari Foundation

Luisa Leal is the founder of the Akari Foundation, Named after her youngest daughter meaning light as a light of hope, an organization she started after meeting her former partner’s twin kids that have been diagnosed with Duchenne Muscular Dystrophy. While she was trying to help the family, she noticed that there was a lack of information in Spanish. She began translating the information she was finding in English to Spanish. Ever since the founding of the organization, Luisa has collaborated with other Duchenne organizations to expand the Akari’s mission to help families by providing them with access to information and support in their native language. Aside from working with the Akari Foundation, Luisa is a mother of two beautiful girls and has a full time marketing job. Luisa will be speaking on “Let’s Go on a Road Trip.”

Luke Messer
Former member of the U.S. House of Representatives, representing Indiana’s 6th Congressional District from 2013 to 2019

The Honorable Luke Messer is a former member of the U.S. House of Representatives, representing Indiana’s 6th Congressional District from 2013 to 2019.  Throughout his career, Luke has earned a reputation for creating bipartisan solutions and delivering results. During his three-term tenure, Luke spent four years as chairman of the Republican Policy Committee and was a member of the bipartisan, bicameral Rare Disease Congressional Caucus. Luke will be speaking on “Pitstop with a Policymaker.”

Effie Parks
Once Upon a Gene Podcast

Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Effie will be speaking on “Tales from the Road.”