BEYOND THE NORM
This live virtual conference will focus on awareness, screening, and management of rare diseases
Thursday May 14, 2026
10:00 am - 3:15 pm EST
This live virtual conference will cover: Overview of rare diseases, pathophysiology of Duchenne's muscular dystrophy, Gaucher Disease, Fabry Disease, and Sanfilippo Syndrome, presentation of symptoms, complications and life-long issues, patient advocacy and resources, clinical trials, carrier and genetic screening, and individualized care
Recording of this virtual conference will be made available to registrants within 2 weeks of the event.
This nursing continuing professional development activity was approved by the Northeast Multistate Division Education Unit, an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation and offers 5 CE credits for nurses and nurse practitioners.
This event is open to the public.
Presenters
Carol Fisher
RN
Carol Fisher has worked in the area of lysosomal storage diseases (LSD) for the past 29 years. She started at NYU School of Medicine working with Dr. Gregory Pastores for 17 years before moving up to Mount Sinai where she works with Dr. Manisha Balwani. She has been involved with every study on Gaucher Disease from 1997-2013. She has been a coordinator on other LSDs including Fabry, Pompe and MPS disorders. She has spoken at various meetings around the country to educate professionals and patients about various LSDs.
Debbie Glazer
Debbie is a mom of two children, one of whom was born with a medically complex neuromuscular diagnosis. As a full time mother and caregiver, Debbie navigated the ups and downs of her child's medical journey, and was a fierce advocate throughout this period of her life.
Erin Stoop
PharmD BCPS
Erin Stoop graduated pharmacy school in 2011 from the University of Wisconsin- Madison. She worked retail pharmacy at Target for 4 years before transitioning to a clinical pharmacist at the Veterans Hospital in Milwaukee. In December 2019, she welcomed her first daughter, Liv, and in March 2022 received Liv’s genetic disorder diagnosis of Mucopolysaccharidosis type 3B (Sanfilippo Syndrome). Her second child, Liam, was born May 2022.
Estie Rose
MS CGC
Estie Rose is a certified genetic counselor at Jscreen, a national non-profit Jewish genetic disease screening program. Esther graduated from Yeshiva University’s Stern College for Women and then went on to complete her Masters in Genetic Counseling from the Ichan School of Medicine at Mount Sinai. She has a special interest in community education and outreach, and is proud to be a resource for individuals of her own community who are facing genetic health issues.
Yehuda Gelman
Yehuda Gelman has spent his career standing beside rare disease patients and their families offering clarity, support, and advocacy when the medical world feels overwhelming. He founded Highway of Hope and serves as its Executive Director, where he also advances clinical research partnerships, participates in meetings on Capitol Hill, and collaborates with corporations to help patients live more independently. His work blends leadership, innovation, and deep compassion to ensure no family faces their medical journey alone.
Countdown to the conference
- 00 Days
- 00 Hours
- 00 Minutes
- 00 Seconds