Written by: Bianca, co-founder and leader (chair) of CACNA1E International and mother of Martin (3), who suffers from a severe form of the gene mutation and is battling the disease... and a healthy and active 1-year-old.

Almost a year ago, I decided that the parent group of children with a CACNA1E gene mutation and the existing CACNA1E research needed to be organized and that we needed to network.

 

Patient families who lived very close to each other did not know each other. The researchers knew nothing about calcium channel conferences with other scientists. Somehow, there was no overview of everything. And I changed that with CACNA1E International.

 

The organization has set itself the goal of finding as many patients as possible around the world, and accommodating and integrating them into our network. Information about the genetic defect, its effects and possible future research successes should be accessible in understandable language not only to the families, but also to those around them.


My organization team and I are all parents of affected children; some are doing quite well, some are not. We all work voluntarily in addition to caring for our disabled children.

 

We run CACNA1E International in the hope that not only our own children, but all children with a CACNA1E gene mutation will have an improved quality of life.

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