Hi, your efforts to better understand your daughter's diagnosis are remarkable, and appreciated. A rare disease lights a fire that's almost impossible to exting

Hi, your efforts to better understand your daughter's diagnosis are remarkable, and appreciated. A rare disease lights a fire that's almost impossible to extinguish, you want every question answered, there often are none, but it doesn't stop you from searching anyway. Your situation resonates with me a lot, my little girl was diagnosed with another KS - Kabuki syndrome, specifically a mutation with the KMT2D gene (thanks to whole genome sequencing), which is rare, but common enough for their to be a few decent resources out there now, specifically ones like https://www.allthingskabuki.org https://www.allthingskabuki.org and https://www.kabukisyndromefoundation.org https://www.kabukisyndromefoundation.org which helped my wife and I better understand our daughter's diagnosis. Kabuki is multi-system affecting, often accompanied by heart disease, feeding, hearing, hypotonia, endocrine, limb/spinal/skeletal/organ abnormalities, and similar to Kleefstra, intellectual, speech, and mobility difficulties. Your ideas all sound fantastic, and definitely on the right path, maybe reaching out to foundations of other rare syndromes may offer some help, likewise with Facebook groups, and the like. I run my own non-profit https://sterlingstrong.foundation https://sterlingstrong.foundation to bring awareness to KS, CHD, isomerism, etc, and to help families during long ICU stays, and further research by donating to other research centers such as https://www.kennedykrieger.org https://www.kennedykrieger.org, maybe they, or orgs like Center for Rare and Neglected Diseases https://crnd.nd.edu/directors-page https://crnd.nd.edu/directors-page may help? I wish you and your family all the best!