During the week of Rare Disease Day, RNE arranged for patients and/or family members to speak to medical audiences at major teaching hospitals around New England. The presentation topics included any combination of the following possibilities: the diagnostic journey, living with the disease, coping strategies, challenges in the healthcare and/or educational systems, and others.
At each event, the patient presentation was preceded by a brief clinical overview of the disease by Mark Korson MD to ensure that the audience has a medical foundation about the condition.
These sessions provided the medical community the chance to see patients with disorders they might not otherwise see. This opportunity also made it more likely that they will recognize such patients in the future.
This will be an annual event and we are already signing on to new facilities to present at for 2019.
Our schedule for this year's series includes presentations at the following facilities:
Mon Feb 26 - Dartmouth-Hitchcock Medical Center, Lebanon NH (Barth syndrome)
Tue Feb 27 - Yale-New Haven Medical Center, New Haven, CT (erythropoietic protoporphyria)
Wed Feb 28 - University of Vermont Medical Center, Burlington, VT (acute intermittent porphyria)
Wed Feb 28 - Boston University School of Medicine Genetic Counseling Program, Boston, MA (Fabry disease)**
Wed Mar 21 - Brandeis University Genetic Counseling Program, Waltham, MA (Barth syndrome)**
Wed May 23 - Newton-Wellesley Hospital, Newton, MA (Hurler Disease, MPS Type 1)
** non-CME presentations
RNE Honors RDD Speaker Series Pilot Sponsors
** non-CME events
RNE Speaker Series 2018, Yale-New Haven Hospital, February 27th.
Mark Korson MD and Jennifer Beck present on Erythropoietic Protoporphyria.
Thank you to Jennifer for allowing us to utilize this video!
(Be sure to rewind to the beginning for the whole presentation).
Boston University Genetics Counseling Program
Mark Korson MD provided a clinical overview about Fabry disease and Paul Rakoski shared about his experience living with this disease.
University of Vermont
Mark Korson MD provided a clinical overview about Acute Intermittent Porphyria and Lina Rebeiz shared about her experience living with this disease.
Dartmouth-Hitchcock Medical Center - Lebanon, NH
Mark Korson MD provided a clinical overview about Barth Syndrome and Kate Michener shared about her family's experiences living with this disease.
Yale - New Haven Medical Center - New Haven, CT
Mark Korson MD provided a clinical overview about Erythropoietic Protoporphyria and Jennifer Beck shared about her experience living with this disease.
Dr. Korson is an RNE Board Member. He is currently Director of Physician Support and Director of Education at VMP Genetics, and co-directs the North American Metabolic Academy (www.simdnama.org). He is a clinical biochemical geneticist, focusing on the development of a telehealth approach to metabolic care (helping physicians with diagnosis and management), and promotes education as a way of addressing the current workforce issue in metabolic medicine.
" I thoroughly enjoyed the presentation by Dr. Korson and the porphyria patient. She told a compelling story about her diagnostic odyssey and living after the diagnosis. This was a worthy prelude to Rare Disease Day." -- Lisa Louise Brailey, MD, Technical Director, Clinical Geneticist
Brandeis University Genetic Counseling Program
Mark Korson MD provided a clinical overview about Barth Syndrome and Susan McCormick shared about her family's experiences living with this disease.
"Hearing from people who are directly affected by genetic disease, of the day-in and day-out situations they face, the hurdles they’ve overcome or how they’ve gone about managing symptoms gives us an important perspective that makes us more effective healthcare professionals. We are truly grateful to Rare New England for such an opportunity". - Kathleen Berentsen Swenson, MS, MPH, CGC
Director, Master's Program in Genetic Counseling Boston University School of Medicine
Mark Korson MD provided a clinical overview about Hurler Syndrome and Kristin Mattheson shared about her family's experiences living with this disease.
We had a very successful Rare Disease Day Speaker Series pilot program for 2018!
Scheduling has already begun for 2019. If you are a part of a medical school or medical facility and would like to participate next year by bringing in RNE to provide a presentation, contact us at Julie@rarenewengland.org and/or firstname.lastname@example.org