Rebecca Barrett profile picture

Team B

A personal campaign sponsored by Rebecca Barrett


Thank you in advance for taking the time to visit Team B's page.  We are grateful for Barrett's family, friends, and extensive support system.

By way of brief background, in August 2021 Barrett was diagnosed with an extremely rare genetic disorder resulting from a de novo, random mutation of his KCNC-1 gene; so rare it doesn't even have a name, just referred to as a "KCNC-1 related disorder."  For those of you who know B, he is a happy, playful, handsome, and charismatic little man.  He takes his condition in stride, always trying his hardest to develop despite the hurdles he constantly needs to overcome.  He is a rockstar. 

If you are like us, you never heard of the KCNC-1 gene before.   The KCNC-1 gene controls the function of a potassium channel in the brain (the portion of the brain that controls coordination, balance, and muscle control). In most cases, this disorder causes seizures, ataxia, intellectual disabilities and developmental delays (and in severe cases children are wheelchair bound by their teenage years).

Because this disorder is so new, only being discovered in the past decade, it is unclear the ultimate effect it will have on B.  But there is hope.  Thanks to B's thorough and brilliant medical team, in November 2021 Barrett enrolled in the CHOP Epilepsy Genetics Research Project, led by Dr. Ethan Goldberg.  Dr. Goldberg has spent his impressive career studying this specific gene and has recently made tremendous advances in a clinical study by being able to recreate a specific variant of this genetic mutation in a mouse model.  His team was able to generate an experimental model of the mutated gene through CRISPR technology and "cure" the mouse of this disorder.   

Our goal  through this fundraising initiative is to provide Dr. Goldberg with the means to continue this line of  research on other variants in KCNC1, including Barrett's specific variant.  

As his parents, we want to change nothing about B.  To us, he is perfect.  But, as parents, we also never want Barrett to struggle a day in his life and to have every opportunity possible.  We are optimistic that through your support Dr. Goldberg and his team will discover a cure and treatment for Barrett's genetic disorder.