Waterford family fights for treatment, awareness for daughter with rare genetic disorder
WDIV ClickOnDetroit
Last updated: September 7, 2026
A Waterford family is advocating for better treatment and increased awareness for their daughter, who suffers from a rare genetic disorder. This condition, CACNA1E, affects an extremely small global population, with only an estimated 150 individuals diagnosed worldwide.
- Key Facts: The disorder is identified as CACNA1E, an ultra-rare genetic condition.
- Globally, approximately 150 individuals are living with CACNA1E.
- A one-year-old girl residing in Waterford is among those diagnosed.
- Her family is actively campaigning for improved medical treatments for her condition.
- The family is also working to raise public awareness about CACNA1E.
- The advocacy aims to shed light on the challenges faced by individuals with such rare diseases.
- The family's efforts highlight the need for more research and support for rare genetic disorders.
- Raising awareness is crucial for fostering a better understanding and potentially leading to more accessible care.
