When we received our Kabuki diagnosis, I felt overwhelmed by the challenge of supporting our son. I thought I could never understand the science of what was going on in his mind and body.
Then, some years later, at a conference put on by the Kabuki Syndrome Foundation, I heard about this study, in which scientists bred mice with Kabuki Syndrome and put them on a ketogenic diet, resulting in significant improvement in their symptoms.
Something clicked. Maybe because I had tried the Atkins diet once, so Keto was at least a familiar topic. This seemed like a discovery that could maybe help my son. So I did what I could to read the paper. I was stymied by much of the science and jargon, but i took away enough of it to get my mind running.
Since then (for the past 3-4 years) I have invested much of what free time I have in attempting to understand Kabuki, reading textbooks, pop science books, talking to specialists, watching youtube videos and yes reading academic papers, many dozens of them (understanding more and more as I learned, still stymied quite often). My focus in this has been twofold.
First, gain an understanding of the parts of the brain that were being affected, so I could be more present with how he viewed the world.
Second, follow along on some of the therapeutic studies and ideas that were out there to see if there was a way I could find to safely help him with his symptoms in the now.
At this point I’ve learned a lot; and I know there are many others like me who have learned as well. Hence I have started this forum so we can share and discuss what we’ve found, what we’ve tried, what worked, what doesn’t.
Please feel free to create an account here if this topic is of interest. It will allow you to post, comment and follow topics.
Account-holders will also receive a regular summary of activity on the forum, so you don’t need to keep coming back to track what’s going on here!