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Life with rare, incurable disease is all about quality

Dr. Rebecca Riba-Wolman, Amber Barry, RN and Stephanie Ruggiero, RN monitor the infusion for the GSD 1a phase 3 trial participant
Tina Encarnacion/UConn Health Photo
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Dr. Rebecca Riba-Wolman, Amber Barry, RN and Stephanie Ruggiero, RN monitor the infusion for the GSD 1a phase 3 trial participant

One in ten Americans, or one on every elevator and four on every bus, is impacted by a rare disease. 

Yet, 95 percent of rare diseases do not have approved treatment. On a promising note, bio-pharmaceutical companies working on orphan drugs have more than 800 projects in clinical development.

In a ground-breaking clinical trial, a participating patient at the University of Connecticut Health Center was the first in the world to receive an infusion treatment for a type of glycogen storage disease.

This hour on Where We Live, we hear from the National Organization for Rare Disorders (NORD) on efforts to create a Rare Disease Advisory Council in Connecticut to elevate the voices of residents with rare diseases, something other states have done.

We also hear from a UConn researcher, and a father and son living with osteogenesis imperfecta, or brittle bone disease, on the latest treatment and challenges.

GUESTS:

John D'Alessandro: Diagnosed with osteogenesis imperfecta at age 40

Christian D'Alessandro: Diagnosed with osteogenesis imperfecta at around four weeks

Alicia Lawrence: Patient Services Case Manager, National Organization for Rare Disorders (NORD)

Amber Barry, RN: Glycogen Storage Disease & Disorders of Hypoglycemia Program at the University of Connecticut Health Center, and Connecticut Children’s Medical Center

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Sujata Srinivasan is a Senior Producer for 'Where We Live,' the flagship news-based, call-in talk show from Connecticut Public Radio, featuring deep dives at the intersection of data-driven narrative and investigative long-form journalism. She's also an editor for the Connecticut Public newsroom.
Lucy is the Executive Producer and Host of Connecticut Public's morning talk show, 'Where We Live.' She’s a longtime public radio reporter covering several beats including immigration, juvenile justice and child welfare issues, education, veterans affairs and the military.