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Archives for: December 8th, 2021

The 2021 NORD Breakthrough Summit

Written by Valaree DonFrancesco on December 8, 2021

Today’s extra-long, extra-special BONUS episode is brought to you from the 2021 NORD Breakthrough Summit. Every year, NORD hosts its flagship conference in October to discuss what’s new, relevant, and on the horizon in the rare disease space. The session we’re featuring is “Designing Trials for Inclusivity, Equity, and Engagement,”… Read More

Dianna’s Story as a Rare Survivor

Written by Rohan Narayanan on December 3, 2021

Once, I was an intelligent, well-traveled and active African American entrepreneur in my middle 40’s who had opportunities to do wonderful things in the world. My passion was to help disabled people of all ages improve their lives. I was fortunate enough to be an icon as the first woman in technology to educate thousands of individuals in university and Fortune corporations, as well as offering my expertise in state, federal and international consulting. 

Further aspirations ended when I was diagnosed with stage IV Leiomyosarcoma (LMS) pelvic bone cancer and given 3-6 months to live. I am… Read More

One Father’s Barefoot 1,200 Mile Journey

Written by Valaree DonFrancesco on November 24, 2021

Chris Brannigan, a major in the British Army, took off his boots for a 1,200-mile barefoot walk down the eastern seaboard of the United States in an effort to raise funds for the creation of a gene therapy treatment that could help patients like his daughter Hasti, battling Cornelia de… Read More

The Gorlin Syndrome Alliance and NORD Launch Natural History Study for Gorlin Syndrome

Written by Valaree DonFrancesco on November 18, 2021

Reading, PA, November 18, 2021—Today, the Gorlin Syndrome Alliance (GSA) and the National Organization for Rare Disorders (NORD)® launched the largest-ever study to research Gorlin syndrome, a rare disease that currently has no cure.

The new study, the Gorlin Syndrome Alliance Patient Registry (GSAPR), creates a platform for patients around the… Read More

Meet Kam Redlawsk: Disability Advocate

Written by Valaree DonFrancesco on November 10, 2021

On the show today, Kam Redlawsk is a designer, illustrator, writer, and disability advocate. After five years of being consistently misdiagnosed and not taken seriously, she was diagnosed correctly with a condition called GNE Myopathy, which is a very, very rare degenerative muscle wasting disorder. There’s… Read More