When Brentney was born in 1993, her parents noticed something was wrong right from birth. Doctors told her family that they did not think she would ever be able to walk or talk. Nevertheless, each and every day, Brentney has continued to exceed everyone’s expectations.
“Up until meeting other individuals of the RYR-1 community, no one else could fully understand what I have been going through…for that, I am forever grateful.” – Brentney, affected with an RYR-1-related disease
When Brentney was born in 1993, her parents noticed something was wrong right from birth. Doctors told her family that they did not think she would ever be able to walk or talk. Nevertheless, each and every day, Brentney has continued to exceed everyone’s expectations.
Like many other individuals with RYR-1-related diseases, Brentney was initially misdiagnosed. Due to her rapid health decline in 2015, she and her family became skeptical about her initial diagnosis, which led to genetic testing with Greenwood Genetics Center and the Mayo Clinic. It was not until January 2016, at the age of 22, that Brentney received her true diagnosis – Recessive Minicore Disease, a severe form of an RYR-1-related disease. A rare situation indeed, she inherited a mutation from each of her parents who are both unaffected carriers.
Brentney and her family continue to remain optimistic, hopeful, and inspirational. In 2016, Brentney graduated with her associate’s degree as she worked on stabilizing her health, even finishing classes from a hospital bed. In 2017 she began working for AccessAbility, a local non-profit center for independent living. Unfortunately, her health took another decline in 2019 and led to operations with lengthy recoveries, forcing her to resign. Today she continues to optimize her current health and do as much as she can while taking necessary precautions due to the current COVID-19 Pandemic.
Although there were some serious health roadblocks along the way, Brentney never felt defeated and her faith never wavered with loved ones always by her side. She accomplished many milestones in her life that no one can ever take away from her. Since her diagnosis, she has dedicated her life to making a difference for others. She has taken the opportunity to speak as an advocate for disability rights on the steps of the SC State House, and raised money for The RYR-1 Foundation. She enjoys attending the RYR-1 International Family Conferences and reuniting with the RYR-1 community.
“After discovering The RYR-1 Foundation, I was finally able to interact with and meet individuals who could identify with the same things I was going through, and that makes my personal battles easier to fight,” Brentney explains.
Brentney is on the Board of Advisors of The RYR-1 Foundation and a Co-Director of the 2022 RYR-1-Related Diseases International Research Workshop.
