This organization focuses on those impacted by a WARS2 deficiency. A WARS2 deficiency is caused by an individual having two copies that each contain a mutation that will have a negative effect. A single "normal" copy will not cause a deficiency. Many mutations have been found with very few individuals sharing the same combination. Thus, many symptoms are similar but the severity of the symptoms vary greatly.
As of December 2024, there are 28 individuals (multiple countries and continents) reported in the literature with a WARS2 deficiency with 6 known to be deceased. In addition to these 28 individuals, EPfH has direct communication with the families of another 21 families in multiple countries and continents. Below are a few of the individuals affected by a WARS2 deficiency.
We encourage all families affected by a WARS2 deficiency to connect with us on Facebook at WARS2 (gene) Families.
Elijah
b. 2014
United States of America
Graham
b. 2004
Canada
Hailey
b. 2016
United States of America
Kendall
b. 2018
United States of America
Maura
b. 2019
United States of America
Tim
b. 2021
Ukraine
Tyler
b. 2019
United States of America
These links are related organizations that do not selectively focus on the WARS2 deficiency but consider these individuals to be within their scope.