Austin, Texas, Feb. 28, 2021 (News) — To the 300 million people worldwide living with a rare disease, World Rare Disease Day, Feb. 28, is a time to shine a light on the life-altering impact rare diseases can have on individuals and their families.
Firefly Fund, a nonprofit established to provide support, resources, and reassurance to families living with rare neurodegenerative genetic diseases like Niemann-Pick Disease Type C1 (NPC) that affect children and currently have no cure, is kicking off its annual World Rare Disease Day event on Sunday (Feb. 28) to bring awareness to the accomplishments and members of its rare disease village.
This year’s event is Run for Rare, a month-long virtual fundraiser. Participants are being asked to gather pledges for the number of miles they can accumulate from Feb. 28 to March 26. Participants can pledge for themselves or gather pledges from family, friends, or colleagues. Proceeds from the event will support Firefly Fund’s three key initiatives: Translational Medical Research, Newborn Screening, and its Patient Access Fund.
Participation in the virtual Run for Rare is now open to everyone. For more information, visit www.fireflyfund.org.
NPC is a rare genetic neurodegenerative disease that currently has no cure. It is progressive with worsening symptoms that include enlargement of the liver and spleen, slurred speech, lack of muscle coordination, and tremors or difficulty with fine motor skill development. The disease typically begins in early childhood and worsens over time. NPC expert clinicians agree that early diagnosis and intervention, before the onset of visible signs or symptoms of the disease, improves health outcomes.
To date, Firefly Fund has made great strides in the NPC community including:
- Bringing NPC clinical trial treatment of the drug VTS-270 from Chicago to Austin. This treatment is now available at Dell Children’s Hospital, and has helped Belle, Abby, and three other Texas families receive experimental NPC treatment at Dell so far.
- Convening a newborn screening initiative focused on adding NPC to state and federal newborn screening lists. A new pilot study launching soon will—for the first time ever in the world—screen newborns for NPC over the course of five years.
- Creating a Patient Access Fund that supports various academic institutions in providing important treatments to NPC children who can’t otherwise afford the medicine.
- Continuing to fund medical research that will lead to a cure for NPC.
About Firefly Fund
Firefly Fund is a 501(c)3 nonprofit organization founded in March 2017 to fund the research and education necessary to accelerate a cure for rare neurodegenerative genetic diseases that affect children and currently have no cure—starting with Niemann-Pick Disease Type C (NPC). Headquartered in Austin, Texas, Firefly Fund leads a collection of programs including Newborn Screening, Translational Medical Research, and the Patient Access Fund. These programs offer resources, support, and reassurance to NPC families. A rare disease diagnosis is unimaginable, but together we will find a cure. For more information, visit www.fireflyfund.org.
Health News Highlights
- Headline: FIREFLY FUND HOSTS INAUGURAL RUN FOR RARE
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