Week in Rare 2024 RARE Advocacy Summit sessions for Empowering the Individual living with Rare Disease

The Global Genes Summit is known for bringing together those facing the challenges of rare disease life, whether they are veteran advocacy leaders or those newly diagnosed or still seeking a diagnosis.  In 2024 between our plenary talks each day, attendees were able to select from three simultaneous program offerings. One focused on the individual living with a rare disease (or their caregiver). The next focused on issues important to those leaders of patient advocacy organizations who are looking to build their skills and improve the capacity of their organization. The third series of sessions centered on how advocates and PAG leaders can move the research forward for treatments for the rare disease that concerns them.

Sessions for Empowering the Individual living with Rare Disease

Living with Visible – and Invisible Disabilities

This panel explores how to take back your power, tips for allies, what to do when people miss the mark, and understanding “disabilities as dynamic”.

Moderator: Mackenzie Abramson, MPH, Senior Manager, Research Programs Communications, Global Genes

Panelists:
Kendra Gottlesben, Marketing Communication Specialist, Center for Disabilities, Sanford School of Medicine, University of South Dakota
Richie Kahn, MPH, Clinical Researcher

Help for the Rare Caregiver

Helping the helper is essential. We’ll look at supports that provide the most benefit, research that shows what works and actionable tips to ease caregiver burdens.

Moderator: Wendy Erler, Alexion

Panelists:

Daniel DeFabio, Director. Community Engagement, Global Genes
Bridgette Kelleher, PhD, Associate Professor, Psychological Services, Purdue University
Brett Koncak, Fitness Trainer, Rare dad, co-founder Mejo

Medical Gaslighting and PTSD

Medical outliers are sometimes doubted or dismissed. Learn what gaslighting is, what to do about it, the impact of PTSD. 

Moderator: Mackenzie Abramson, MPH, Senior Manager, Community Engagement, Global Genes

• Amanda Griffith Atkins, Marriage & Family Therapist
• Carla D’Imperio, Family Support Specialist, Phelan-McDermid Foundation
• Suzanne Edison, Mental Health Coordinator, CureJM

My Genetic Test Says VUS: What’s Next?

What does “variants of unknown significance” mean? When and how do you pursue reanalysis? Are these variants different for marginalized populations? Find out.

Moderator: Abigail Sveden, Genetic Counselor, Boston Children’s Hospital 

Panelists:

• Dustin Baldridge, M.D., Ph.D., Assistant Professor, Washington University
• Christina Gurnett, M.D., Ph.D., Washington University
• Michele Herndon, Program Director, Undiagnosed Diseases Network Foundation

Rare Kids and Siblings

Why are rare siblings  sometimes called “glass children?” Rare siblings discuss how to manage the unique role of a sibling and how parents can support their needs.

Moderator: Noah Seidman, BDSRA, Rare sib

Panelists:

• Felix Townsin, A Million Acts of kindness, Blau Syndrome sib  
• Matt Flesch, VP Communications and Advocacy, Amgen, Rare Sib

Your Child’s Rights:  IEPs and 504s

The battle to get the best Individualized Education Program agreed to and adhered to is a top complaint for rare parents. Our panel will help you understand your child’s rights and make sure your child isn’t offered “less than.”

Moderator: Shannon Bennet, Patient Navigator, Global Genes

Panelists:

• Elle Cole,  Advocate, Sickle Cell Disease
• Piper Paul, Attorney, Piper Paul Law

Career Considerations for Rare Adults

Overcome common challenges faced by rare adults in the workforce such as dealing with prejudice, asking for medical accommodations, and when/how to disclose a health condition.

Moderator: Mackenzie Abramson, MPH, Senior Manager, Research Programs Communications, Global Genes

Panelists:

• Dakota Fisher Vance, Global Patient Advocacy Associate Director, Biocryst Pharmaceuticals
• Kendra Gottlesben, Marketing Communication Specialist, Center for Disabilities, Sanford School of Medicine, University of South Dakota
• Lori Renna Linton, Rare Disease Advocate, Educator and Filmmaker

RARELY Told Stories Workshop

This hands-on workshop presented by Global Genes and The Disorder Channel covers the basics of filmmaking, editing, principles of storytelling, and what’s unique to rare disease films.

Facilitators:

• Daniel DeFabio, Director of Community Engagement, Global Genes, Filmmaker, Menkes Disease Dad
• Claudia Parker, FOXP1 Mom, Entrepreneur, Filmmaker