Ā In times of adversity, the power of community reminds us that we’re never alone. Today, we shine a spotlight on families dealing with CACNA1A-related disorders.Ā
What is CACNA1A?
CACNA1A is a gene that provides instructions for making a protein that plays a key role in nerve cells, primarily in the cells of the brain. This protein forms a channel, known as a calcium channel, which controls the flow of calcium ions into these cells. Calcium ions are vital in the process of sending and receiving signals between cells, influencing numerous aspects of cellular function.Ā
Mutations or changes in the CACNA1A gene can lead to abnormal calcium signaling, which can cause various neurologic disorders, often characterized by seizures, migraines, and movement abnormalities. As such, understanding and conducting ongoing research into CACNA1A is crucial for advancing treatments for these complex neurological conditions.
Finding Solace through the CACNA1A Foundation
After receiving their daughter Emarie’s diagnosis and feeling lost and confused, Clinton (one of PVPās owners) and Sarah Greathouse, turned to the CACNA1A Foundation for guidance and were able to find solace.
Determined to make a difference, Sarah has since joined forces with the foundation and taken on multiple roles. She now serves on the 5K Planning Committee, leads the Newly Diagnosed Support Group, and has secured the backing of Pecos Valley Production for the community.Ā
Her relentless dedication helps drive the foundation’s mission forward, which aims to find a cure for all affected by CACNA1A.
A Testament of Resilience: The CACNA1A 2023 Run, Walk, and Roll Virtual 5K
We are immensely proud of the community’s involvement in the CACNA1A 2023 Run, Walk, and Roll Virtual 5K. A heartfelt thank you goes out to all of our wonderful employees, patients, and customers for their relentless support and participation in the fundraiser.Ā
Team Emarie’s Encanto would not have been the largest fundraiser without the extraordinary efforts of everyone involved!Ā
A message from Sarah:
āWe are SO thankful for each of you that joined, donated, shared posts and spread the word about this incredible fundraiser! Raised $17,000 in 2023. I canāt wait to continue to do everything we can to find a cure for all our CACNA1A loved onesā¦We are just getting started!!ā
Get Inspired: Emarie’s Journey and Sarah’s Words of Wisdom
For more insights about Emarie’s story and to discover valuable advice from Sarah, visit the Champion Stories link at https://linktr.ee/cacna1a. Delve into the personal stories of resilience and hope while connecting with others who share similar experiences.
With the CACNA1A Foundation, you will find a supportive community and a shared mission, standing strong together in the search for a cure.
*The contents of this blog are intended for informational purposes only. Always seek the advice of a physician or other qualified healthcare provider with any questions you may have regarding a medical condition.*