Speakers

Virtual State-Specific Training and Networking Event Speakers

Sarah Chisholm
Executive Director, BPAN Warriors

Session: Taking the Driver’s Seat (Florida State-Specific Training & Networking Event)

Sarah Chisholm is the executive director of BPAN Warriors, a non-profit organization she founded after the youngest of her three daughters was diagnosed with BPAN (WDR45), an ultra-rare, neurodegenerative disease. Since establishing BPAN Warriors, Sarah has dedicated her time to providing patient families access to current research and resources and most importantly connections to other families affected by BPAN. Her goal is to inspire thoughtful, well-researched, patient-centered action to improve outcomes in both research and advocacy.

She brings with her a passion for learning, a strong commitment to open and transparent communication, and a persistent desire to provide families relevant and easy to understand scientific information. Sarah hopes that through collaboration with other rare disease advocacy groups and scientific communities, resources and research may provide an easier path towards clinical outcomes.

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.

George Fox
President, Phoenix Fox Foundation

Session: Taking the Driver’s Seat (Florida State-Specific Training & Networking Event)

George Fox is the father of Phoenix , a 18 year old boy with infantile Pompe disease and the husband of Gina . Phoenix was born at Baptist Hospital in Miami but at the time they were living in Islamorada in the Florida Keys. Once Phoenix was diagnosed at six months old they had to move from the keys to Gainesville where it was their best chance to get the right care for Phoenix. They currently reside in Gainesville, Florida. George is the President of the Phoenix Fox Foundation, and they raise money to help drive research for neuromuscular disease as well as fund the MDA Clinic at University of Florida. He also sits on the Florida Newborn Screening Advisory Council as a consumer to try and voice the concerns of families born with rare diseases. 

Georgene Glass
Founder and Executive Director, Dreamsickle Kids Foundation, Inc

Session: Taking the Driver’s Seat (Nevada State-Specific Training & Networking Event)

Georgene Glass is the founder and Executive Director of Dreamsickle Kids Foundation, Inc, the first Sickle Cell Disease (SCD) organization in the state of Nevada. Since 2018, the organization has led Sickle Cell support and advocacy in Nevada contributing to the state’s first Sickle Cell bill AB254 which has allowed for better access to medications specifically made for SCD and a state registry to obtain an accurate count of the number of patients in Nevada affected with SCD. Georgene’ also serves as a Vice Chair of the Nevada Rare Disease Advisory Council created in 2019. As a mother of a child with SCD, Georgene’ has made increasing SCD awareness and support in the state of Nevada a personal mission. With SCD being one of the 7,000 Rare Diseases, in 2020 Dreamsickle Kids Foundation, expanded its support and efforts to those in the state that may suffer from any Rare Disease. This year Georgene’ became an author, publishing The Tale of the Cell, a children’s book about the ups and downs of the disease starring her daughter with SCD Gia. The book gives an entertaining yet real view of how SCD affects people and ways they manage and still enjoy life. Georgene’ holds a B.S in Criminal Justice, is a Community Health Worker (CHW) with special CHW training from the Sickle Cell Disease Association of America which allows her to further advocate and support those with SCD in Nevada.

Mary Molino
Patient Engagement Consultant, EveryLife Foundation for Rare Diseases

Session:  Mapping Out Your Experience

Mary was diagnosed with Cardiac Sarcoidosis in 2014 after a 7-year diagnostic odyssey.  Once her health stabilized, Mary was able to use her experience as a patient to advocate for Sarcoidosis and all rare diseases.  Having multiple family members living with chronic rare diseases, she was able to connect to the rare disease community from many different perspectives.  Using her background as a trainer, teacher and coach, she began working as a Patient Engagement Consulting for the EveryLife Foundation.  Mary is also an Ambassador and Peer Mentor for the Foundation for Sarcoidosis Research. What she enjoys most about her work is the opportunity to work with dedicated people in anenvironment with a shared purpose of making positive impactful change for the rare disease community

Kevin Mott
Board Member, NephCure Kidney International

Session: Taking the Driver’s Seat (Illinois State-Specific Training & Networking Event)

Kevin Mott is an advocate for those living with kidney disease and fights to find a cure and better treatment options. A kidney donor helped save Kevin’s life in 2017 when he himself was diagnosed with a rare kidney disease. As a board member with NephCure Kidney International, Kevin now speaks with researchers, medical professionals and health care advocates around the world about ways to support patients and patient families dealing with rare kidney diseases.

Kevin also serves on the board of the Paul W. Caine Foundation and Youth Opportunity United. He has been active with the National Sales Network, the Kiwanis Club of Evanston, the Kappa Alpha Psi Alumni, the Evanston ReBuilding Warehouse, United Way, and the Evanston Community Foundation. He is a past Evanston Chamber of Commerce Nonprofit Person of the Year.

Robert Ostrea
Co-Founder, Little Miss Hannah Foundation

Session: Taking the Driver’s Seat (Nevada State-Specific Training & Networking Event)

Robert Ostrea is a co-founder of the Little Miss Hannah Foundation, whose mission is to help enhance the quality of life for young children diagnosed with life-limiting rare diseases, undiagnosed complex medical needs, and children who have been placed in hospice or palliative care in Southern Nevada. Robert is Dad to Ethan (20), Abigail (17) and Hannah, who lost her battle to Neuronopathic Gaucher’s Disease at the age of 3. Robert has been involved in business development and promoting higher education for over fifteen years, working primarily with adult professionals in business, teacher education, information technology and healthcare. Influenced by his personal experience caring for Hannah coupled with his desire to be more effective in advancing the mission of the Little Miss Hannah Foundation, Robert pursued and completed an MBA with an emphasis in Healthcare Management and an MPA with an emphasis in Government in Policy. Robert lives with his wife Carrie and their children in Henderson, NV and continues to be a parent advocate of childhood rare disease and special needs issues.

Adrian Palau-Tejeda
Diversity and Inclusion Fellow, EveryLife Foundation for Rare Diseases

Session: Florida State-Specific Training & Networking Event

Adrian Palau-Tejeda is the Diversity and Inclusion Fellow for the EveryLife Foundation for Rare Diseases. A Midwestern in all that he does, Adrian began his outreach work walking the streets of Milwaukee, field organizing in under-served communities. In his role at EveryLife, Adrian has striven to develop diverse relationships and resources in order to establish meaningful connections with diverse rare disease communities.

Jamie Sullivan
Director of Public Policy, EveryLife Foundation for Rare Diseases

Session: Navigating the Detour

Jamie Sullivan joined the EveryLife Foundation for Rare Diseases in 2020 as the Director of Public Policy after a spending 15 years with the Alpha-1 and COPD Foundations. Jamie’s work has focused on achieving patient-centered federal, state, and regulatory policy changes in the areas of health appropriations, public health infrastructure and access to care. In her role at the COPD Foundation, Jamie also focused on building programs to engage and train patient advocates as well as advocating for the robust inclusion of patient and caregiver perspectives in all aspects of treatment development and review. Prior to joining the COPD Foundation, Jamie supported the research and clinical programs of the Alpha-Foundation. She obtained her master’s in public health policy and management at the Florida International University.

Ashley Valentine
Co-Founder, Sick Cells

Session: Taking the Driver’s Seat (Illinois State-Specific Training & Networking Event)

Ashley is a Co-Founder of Sick Cells and the youngest sibling of her family. Her older brother and Co-Founder of Sick Cells, Marqus Valentine, had sickle cell anemia, Hgb ss. Growing up, Ashley spent much of her childhood charming hospital playroom attendants while Marqus was frequently hospitalized for pain crises, fever, and multiple complications from SCD.

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.”