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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

Cat Pastor contributed to this show which originally aired February 23, 2022.

Where We Live is available as a podcast on Apple Podcasts, Spotify, Google Podcasts, Stitcher, or wherever you get your podcasts. Subscribe and never miss an episode!

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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 leads Connecticut Public's strategies to deeply connect and build collaborations with community-focused organizations across the state.