Life with rare, incurable disease is all about quality
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.
- 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.