It’s been an incredibly busy and exciting few weeks for PWSA | USA’s Advocacy Team! From Washington, D.C., to Boston, we’ve been working to elevate the voices of individuals and families living with Prader-Willi syndrome (PWS), strengthen partnerships across the rare disease community, and ensure PWS is part of important conversations shaping the future of research, newborn screening, and public health.
Global Genes RARE Drug Development Symposium
Elaine represented PWSA | USA at the Global Genes RARE Drug Development Symposium (RDDS) in Boston, connecting with patient advocacy leaders, researchers, and industry partners to discuss the challenges and opportunities in rare disease drug development. These conversations are essential as we continue advocating for meaningful treatments, patient-centered clinical trials, and a stronger role for families in the drug development process.
RARE Foundation Newborn Screening Bootcamp
Dorothea participated as a panelist in the RARE Foundation’s Newborn Screening Bootcamp in Washington, D.C., highlighting the importance of early diagnosis and the growing role of genomic newborn screening. She shared the PWS community’s experience with delayed diagnosis and discussed Florida’s Sunshine Genetics initiative, an innovative program incorporating PWS into voluntary genomic newborn screening. The discussion reinforced the importance of ensuring that advances in screening translate into earlier interventions, better access to care, and improved outcomes for families.
Wellesley College: Bringing Patient Advocacy into Public Health
At Wellesley College in Massachusetts, Dorothea presented to public health students about the power of patient advocacy and the critical role nonprofit organizations play in shaping healthcare policy, research, and access to treatment. Using PWSA’s advocacy work as a real-world example, she highlighted how families can transform their lived experiences into meaningful policy changes at the state and federal levels.
ICoNS: Advancing Genomic Newborn Screening
Dorothea also participated in the International Conference on Newborn Sequencing (ICoNS) in Boston, joining researchers, clinicians, policymakers, and patient advocates from around the world to explore the future of genomic newborn screening. Discussions focused on responsible implementation, family engagement, genetic counseling, and the potential for earlier diagnosis to change the trajectory of rare diseases like PWS. The conference also provided an opportunity to highlight Florida’s Sunshine Genetics initiative and the importance of keeping patients and families at the center of these emerging programs.
Harvard Medical School & Boston Children’s Hospital: A Strong Finish!
We closed out an extraordinary stretch of advocacy with Elaine and Dorothea joining forces at the Pediatric Rare Disease Summit, hosted at Harvard Medical School and Boston Children’s Hospital. Together, they represented PWSA | USA through a presentation and lightning-round discussions, sharing the PWS community’s experiences and highlighting the importance of collaboration among patient advocacy organizations, clinicians, researchers, and public health leaders.
It was a wonderful opportunity to showcase PWSA’s work across advocacy, research, education, and community engagement while reinforcing a message that drives everything we do: the patient and family voice belongs at every table where decisions about rare diseases are being made.
These past few weeks have been a powerful reminder that advocacy doesn’t happen only in legislative offices or during congressional sessions. It happens in classrooms, research conferences, policy discussions, and partnerships that help move our community forward.
We’re proud to represent the PWS community in these spaces, and even more excited about the opportunities ahead!
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.