Building Patient Education & Advocacy Pathways in Lysosomal Storage Disorders (LSDs)

Rare Disease Summit

July 30, 2022

9am - 12pm

RareKC is excited to partner with KU Medical Center and Dr. Dimachkie from the Department of Neurology to host this Rare Disease Summit.

training to patients, families, caregivers and health professionals to promote person-centered care, specifically tailored to the Lysosomal storage disorder community.

Conference participants will be able to:

  • Describe the changes in cells that cause changes in body functioning
  • Explain how medication works to treat LSDs and the importance of disease monitoring
  • Practice communication and advocacy skills to foster shared decision making
  • Apply self/family management strategies for healthy living

In addition to covering these topics, there will be a Q&A session with guest speakers representing Pompe, Fabry, Mucopolysaccharidosis (MPS), and Gaucher disease. We hope you can join us!


Saturday, July 30

9:00 AM - 12:00 PM

9:00am - 9:15amWelcome

  • RareKC Conference Welcome

9:15am - 10:05amSession 1:- (Breakouts) LSDs 101

  • 9:15 – 9:45am – PowerPoint Slide Presentation (Presentation to include Clinical Presentation, Disease Progress & Monitoring, & Clinical Treatment/Research)
  • 9:45-10:05am – Q&A Session
    • Pompe –Mazen Dimachkie, MD, FAAN, FANA, Professor of Neurology & Chief of Neuromuscular Division- KUMC- Kansas,
    • Damien Stevens, MD, MS, Associate Professor of Medicine, University of Kansas School of Medicine, The University of Kansas Health Systems
    • Fabry – Ahmad Tuffaha, MD, Assistant Professor of medicine, Department of Nephrology, The University of Kansas Health Systems
    • Gaucher – Andrew Burrow, MD, UAMS, Associate Professor in the Department of Pediatrics, Division of Genetics and Metabolism, and a clinical and medical biochemical geneticist
    • MPS – Jennifer Gannon, MD, FAAP, FACMG, Clinical Biochemical Geneticist, Children’s Mercy Hospital, Assistant Professor or Pediatrics, University of Missouri-Kansas City, Children’s Mercy Hospital

10:05am - 10:15amBreak

  • Break

10:15am - 11:00amSession 2: Communication and Advocacy

  • Carli Zegers, PhD, APRN, FNP-BC, Assistant Professor, The University of Kansas School of Nursing

11:00am - 11:45amSession 3: Self and family management

  • Jill Peltzer, PhD, APRN-CNS, Associate Professor, The University of Kansas School of Nursing, The University of Kansas School of Nursing

11:45am - 12:00pmWrap-up

  • Summit conclusion