06/20/2026
Johns Hopkins trip, 2026.
This is year 10 of visits to Hopkins (and Kennedy Krieger) for Enzo. We were referred here by genetics at Levine Children's. While the doc there had seen/diagnosed a few kids with Kabuki Syndrome, he said he had "never seen a kid with Kabuki as complicated" as Enzo. He knew there were researchers out there specializing in this disorder, and helped us identify a few clinics. Dr. Bjornsson and Johns Hopkins were the first to respond...and the rest is history. We learn so much every time we come. And I'm so impressed by and eager to participate in the research.
The biggest news is research continues to move forward and there will be a new study starting next year. It will be unique in that KS type 2 boys' data WILL be included. (Most of his data in the past has not been used because, as we have learned, these type 2 boys are extra unique, even among their KS peers).
We talked about growth. Enzo had his spine fused last August, so vertically he will not grow. So, going forward, he does not need to "grow" much at all. Dr. Harris said that the nutrients he is getting to maintain this healthy weight are also what his brain needs to stay healthy. This is a relief. When you have a tube-fed child, the stress of helping them "grow" is a daily grind. Knowing we do not need to keep increasing calories is a load off!
Seizures are still a very real possibility. Dr. H said he is to be treated like a child with a brain injury. There will always be that risk. However, we do not need to keep up with neurology appts in Charlotte. And we do not need MRIs at regular intervals. Dr. H will follow him for neuro with his Hopkins visits. If he has new symptoms (ie. seizures) we will address those at that time.
All in all, keep doing what were doing. Therapy, school, GI, cardio, pulm, endocrine, ENT, immunology, being AWESOME etc.
(Our flight last night from Baltimore didnt happen, so American brought us to DC for an AM flight out of Reagan).
