REFSUM AWARENESS WEEK NEWS RELEASE
Global DARE Foundation
For Immediate Release
Refsum Awareness Week Shines Light on Rare Genetic Disorder
[Windham, Maine, USA] - Refsum Awareness Week is a global initiative that aims to support those living with Refsum disease, a rare genetic disorder that affects approximately one in one million people worldwide and can cause loss of mobility, sight, hearing and heart complications.
Presented by the Global DARE Foundation, the week-long campaign from June 10 – 18, 2023 is designed to educate the public and health care professionals about the impact of Refsum disease on individuals, families, and communities, as well as impactful tactics to manage Refsum symptoms.
"You would think that when you have a diagnosis, you would get a treatment plan and every doctor would know what to do for you, but that's not the case with rare diseases," said Kristie DeMarco, a Refsum patient who is the Founder and President of the Global DARE Foundation.
Adult Refsum disease is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plant-derived chemical called phytol which some bacteria found in ruminant animals and fish turn into Phytanic Acid.
In humans if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in some foods as a result of the bacterial fermentation of green plants or algae. The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish products. One in 300 people who have Retinitis Pigmentosa also have Refsum disease, which can be life threatening if undiagnosed.
Despite its rarity, Refsum disease can have a significant impact on the lives of those affected and their families. Through Refsum Awareness Week, organizers hope to raise awareness about the disease and improve understanding among healthcare professionals, researchers, and the general public to help encourage earlier diagnosis and treatment.
Virtual activities for the week will be built around increasing awareness about disease management locally and globally; ongoing and proposed scientific research; promoting information and tactics to manage Refsum symptoms including diet and exercise lifestyle choices; and finally, ways to get involved with, and support, the Global DARE Foundation. Participants are encouraged to share their stories and experiences with Refsum disease to help raise awareness and support for those living with the condition.