The LRRO is working with Global DARE to save eyesight and hearing with early diagnosis for Refsum Disease.
What is Adult Refsum Disease?
• Adult Refsum disease is a genetic disorder that prevents the body from breaking down and removing phytanic acid found in some of the foods that we eat.
• The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish.
• In Refsum patients phytanic acid accumulates in our nerve, liver and fat tissues which leads to the dysfunction of the myelin in the central and peripheral nervous systems.
• Refsum Disease is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss
Thus, Early Diagnosis is critical to help prevent the damage from happening!!
How do you get Refsum Disease?
Refsum disease is a genetic disorder inherited in an autosomal recessive fashion. This means that if both parents are carriers of the disease, each child has a 1 in 4 chance of developing Refsum disease.
When both parents are carriers of a specific mutated gene, such as those for Refsum disease, their children have a 25% chance of being affected by the disease, a 25% chance of neither being a carrier nor affected, and a 50% chance of being an unaffected carrier, just like their parents
How is Refsum Disease Diagnosed?
- Blood Test for elevated levels of phytanic acid
- Genetic Testing
- Clinical Examinations
- Fibroblast test
You may need to get a letter of referral from your General Practitioner (GP) to any of the following specialists:
The condition appear at every 1 in 1,000,000
About Global DARE Foundation
Global DARE Foundation was established in 2019 by Kristie DeMarco to help drive research and find better therapies to improve the quality of life of Refsum patients.
The Global DARE Foundation has started a research project to test more foods for their phytanic acid content and to update the previous measurements as dietary habits, farming practices and food manufacturing processes have changed dramatically in the last 30 years.
To date, only 150 foods have been tested which limits the foods that Refsum patients can eat. The foundation is also in early conversations on a proof of concept study for gene therapy into this inherited disorder. It is also exploring a reliable test for Newborn Bloodspot Screening.
To learn more about the Global DARE Foundation mission and priorities, visit their website at https://www.defeatadultrefsumeverywhere.org/