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
    • PompeMazen 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
    • FabryAhmad Tuffaha, MD, Assistant Professor of medicine, Department of Nephrology, The University of Kansas Health Systems
    • GaucherAndrew Burrow, MD, UAMS, Associate Professor in the Department of Pediatrics, Division of Genetics and Metabolism, and a clinical and medical biochemical geneticist
    • MPSJennifer 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


Andrew Burrow

Dr. T. Andrew Burrow

Dr T. Andrew Burrow is an Associate Professor of Pediatrics in the Department of Pediatrics and Section of Genetics and Metabolism at the University of Arkansas for Medical Science and Arkansas Children’s Hospital.

He is a board-certified pediatrician and medical biochemical/clinical geneticist. He completed medical school at the University of Arkansas for Medical Sciences, followed by a residency and fellowship at Cincinnati Children’s Hospital Medical Center.

His areas of interest include lysosomal storage diseases, particularly Gaucher disease, and neurometabolic diseases. He is actively involved in the clinical management of individuals with inborn errors of metabolism and has been a primary investigator on several clinical trials and registries related to inborn errors of metabolism, specifically Gaucher disease.

In addition, he has authored many original peer-reviewed journal articles and book chapters related to these disorders. He is also a board member of the North American International Collaborative Gaucher Group.

Mazen M. Dimachkie

Mazen M. Dimachkie, MD

Mazen M. Dimachkie, MD is a tenured Professor of Neurology & Director of Neuromuscular Division at the University of Kansas Medical Center (KUMC). Dr. Dimachkie is ABPN board-certified in Neurology, Clinical Neurophysiology, and Neuromuscular Medicine and holds a UCNS certificate in Clinical Neuromuscular Pathology. He is Executive Vice Chairman & Vice Chairman for Research Program, Department of Neurology. He is the Associate Director of the Institute for Neurologic Discoveries at the KUMC. Dr. Dimachkie has national and international reputation as a clinician, educator and researcher.

Jennifer Gannon

Dr. Jennifer Gannon

Dr. Jennifer Gannon is a clinical biochemical geneticist at Children’s Mercy Kansas City who specializes in the diagnosis and treatment of rare genetic diseases. As part of her practice, Dr. Gannon works with families whose children have lysosomal storage disorders including Fabry disease, Gaucher disease, Pompe disease, mucopolysaccharidoses, and leukodystrophies, and evaluates newborns from Kansas and Missouri who have abnormal newborn screening tests for lysosomal storage disorders and other inborn errors of metabolism. She currently serves as Chair of the Kansas Department of Health and Environment’s Newborn Screening Advisory Council and is a member of the Missouri Department of Health and Senior Service’s Genetics Advisory Committee.

Jill Peltzer

Dr. Jill Peltzer

Dr. Jill Peltzer is an Associate Professor at the University of Kansas School of Nursing. She teaches theory development and qualitative methods in the PhD program. Dr. Peltzer has worked as a clinical nurse specialist in pain management and internal medicine and as a staff nurse in neurology and hematology/oncology. She also spent a year in South Africa as a Peace Corps Volunteer working in HIV and substance abuse prevention. Dr. Peltzer’s research focuses on addressing health inequities among populations who have been historically excluded, using patient and community engagement methods, and translating research to policy to address the structural issues that cause and perpetuate inequities.

Damien Stevens

Dr. Damien Stevens

I completed medical school at University of Missouri-Kansas City then fellowship at Rush University in Chicago where I was staff for five years before returning to Kansas City. I have practiced, taught and completed research in pulmonary, critical care and sleep medicine for nearly 20 years now with the last ten years at the University of Kansas Health System and have been Associate Professor of Medicine for the last 3 years. I started the sleep fellowship here at KU ten years ago and have been sleep laboratory medical director during the same time.

Ahmad Tuffaha

Dr. Ahmad Tuffaha

Dr. Ahmad Tuffaha is an Assistant Professor in the Department of Nephrology and Hypertension at the University of Kansas Health System. He completed medical training at the University of Jordan and Internal Medicine residency at the University of Missouri-Kansas City. He did his Nephrology fellowship training at the University of Kansas Health System. He is board certified in Internal Medicine and Nephrology.

Dr. Ahmad Tuffaha serves as the director of the outpatient Nephrology clinic and he is the director of the Renal Amyloidosis program. He manages multiple kidney diseases and he has a special interest in Lysosomal Storage Disorders mainly Fabry Disease and is eager to provide cutting edge care to patients with this rare disease. He has been involved in multiple clinical studies and have multiple publications in the field of Fabry Disease. Dr. Ahmad Tuffaha is a member of the American College of Physicians, American Society of Nephrology and National Kidney Foundation.

Carli Zegers

Carli Zegers, PhD, MBA, APRN, FNP-BC

Dr. Zegers is an Assistant Professor at the University of Kansas, School of Nursing, and an Emergency Department Nurse Practitioner at University Health – Truman Medical Center. Dr. Zegers’ research interests include health literacy and policy in underserved populations, specifically advancing health literacy through improved communication and implementation and dissemination science in the Hispanic/Latino population.