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May 21, 2019

TOPIC: Featured News, Get Involved, Patient Stories, Patients & Members

Exciting Rare Impact Awards Announcements

Posted at May 5, 2019 10:34 am by Christina Jensen

This year’s Rare Impact Awards are going to be spectacular! From star power to the heroes of the rare disease community, it is going to be a night to remember. Every registration to the Living Rare, Living Stronger NORD Patient and Family Forum, June 21-23 in Houston, TX, comes with a complimentary ticket to this terrific event. Read More

May 20, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members

Deborah Skolaski: 2019 Rare Impact Award Honoree

Posted at May 5, 2019 01:31 pm by Christina Jensen

Houston native Deborah Skolaski is the loving grandmother of Cori, a seven year-old living with metachromatic leukodystrophy. MLD is a genetic disorder that affects the nerves, muscles and other organs, as well as behavior. Deborah felt helpless as she observed the struggles that her son, daughter-in-law and Cori were experiencing. However, she was determined to make a… Read More

May 20, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members

Madison Shaw: 2019 Rare Impact Award Honoree

Posted at May 5, 2019 01:25 pm by Christina Jensen

Living through a lengthy diagnostic odyssey is unfortunately very common for rare disease patients. Madison “Maddie” Shaw’s journey to diagnosis took place over an intense and frustrating two and a half years when she was 12 and included acute infections, multiple hospitalizations and almost two dozen befuddled doctors. Despite extensive medical attention, it took Maddie’s mom noticing… Read More

May 20, 2019

TOPIC: Advocacy, Featured News, Get Involved

Dr. Debra Regier: 2019 Rare Impact Award Honoree

Posted at May 5, 2019 01:18 pm by Christina Jensen

Debra Regier, M.D., Ph.D. is the Director of Genetic and Genomic Education at Washington, DC’s Children’s National Medical Center, attending physician in genetics and metabolism and Primary Investigator (PI) for the Rare Disease Clinical Research Scholars Program. A graduate of the University of Utah School of Medicine in 2009 as Primary Investigator, Dr. Regier now… Read More

May 20, 2019

TOPIC: Advocacy, Featured News, Get Involved

Dr. Wendy Chung: 2019 Rare Impact Award Honoree

Posted at May 5, 2019 12:58 pm by Christina Jensen

As a clinical and molecular geneticist, Wendy Chung, M.D., Ph.D. has been working with patients with rare genetic diseases and their families for the last 20 years. She is the Kennedy Family Professor of Pediatrics and Medicine at Columbia University Irving Medical Center and leader of the Chung Lab at Columbia University. Her focus has been on… Read More