Rare Disease Week is held every year during the last week of February and Rare Disease Day is celebrated February 29th and is meant to bring awareness to communities and the government to advocate for change for those who have rare diseases. Keep reading to learn about a family in Italy shining a light on rare diseases, how you can get involved, learn why we wear zebra stripes, find links to videos, materials and more!
Recently we spoke with Concetta and Arturo Nuzzo, a GFPD Family residing in Valle Caudina, Italy to learn about the amazing ways they have been spreading awareness and hope during Rare Disease Week. The Sophie Nuzzo Association will be lighting monuments in five cities throughout the course of Rare Disease Week and culminating in a beautiful illumination of eleven monuments throughout 5 cities together on February 29th.
Their daughter, GFPD Warrior, Sophie Nuzzo is an eight-year-old who has a rare disease, Zellweger spectrum disorder, a type of peroxisomal disorder. She lives in Valle, Italy with her parents and her twelve-year-old brother, Pasquale. Concetta and Arturo started the Sophie Nuzzo Association to bring awareness to the disease and to help others who also have peroxisomal disorders.
In support of Rare Disease Day, The Sophie Nuzzo Association, in collaboration with the Valle Caudina Health Department will host a conference, during which families and caregivers will be able to share their stories with government officials and local health authorities. They will be asking for change in the care provided for individuals who have rare diseases in their communities.
A series of monuments will be illuminated in the colors of the Day, from the best known in the world to those that have value for the local community, to draw attention to those living with a rare disease. A quote from the Nuzzo Association shares “Thanks to this “luminous” initiative, every patient and every person who shares their daily life will be able to proudly say: all this came about for me, for my son/daughter, for my sister/brother, for my/my nephew, for my friend.”
The family will be first time attendees at the GFPD Family and Scientific Conference being held May 26th – 29th in Washington, D.C. This is the ninth major conference for the Foundation that addresses issues for education, scientific research, advocacy and supports for peroxisomal disorders, a rare genetic disorder affecting approximately 3,000 births each year around the globe.
We welcome our global community of families, caregivers, the medical and scientific community, and more to join us for this gathering that is designed to inform and convene families, scientific and medical communities, supporting the health and research needs of affected patients. At this year’s conference, the GFPD will also be hosting an Externally-Led Patient-Focused Drug Development meeting, at which the Food & Drug Administration will hear from families on the impacts of this rare disease, approaches to current treatments, and clinical trial readiness. You can register here to join us in Washington, D.C. this May!
On February 29th, the rarest day of 2024, remember Sophie and all other individuals who have or had a rare disease. Share their stories and help them raise awareness.
Here are a few great ways to get involved and make an impact this Rare Disease Week:
- Share your story!
- Wear zebra print or stripes (see below to learn more about this!)
- Print and share pictures with your GFPD Rare Disease Sign on social media.
- Follow @thegfpd on social media to share rare disease facts.
- Share the GFPD Rare Disease Day Video
- Write your Representative(s) to share your story about how rare disease impacts you.
- Print, color, and share the GFPD Rare Disease Day Coloring Page.
Why a zebra or stripes? The Zebra has become the mascot for rare diseases. It stems from the common phrase, “When you hear the sound of hooves, think horses, not zebras.” This is a common saying medical students hear during training and teaches doctors to expect common conditions to help avoid misdiagnosis of something rare. Therefore, the “zebra” term references the rare disease. This is why you will see rare disease patients and advocates wearing zebra print and/or stripes.
How are you getting involved in Rare Disease Week or Rare Disease Day this year? Make sure to tag @thegfpd when you share your efforts to make a difference this Rare Disease Week!
To learn more, visit thegfpd.org or The GFPD social media outlets.
Written By Katie Sacra and Margaret Reimann
