I would have never guessed that the odd combination of symptoms she was experiencing was due to Blau Syndrome with a specific variant connected to Crohn’s), Brittle Cornea Ehlers Danlos Syndrome, 2 variants in the MTHFR, and Acrodermatitis Continua Suppurativa Of Hallopeau. We learned that she does not carry some of the really concerning genes that l have luckily! However, it gave us insight on the importance of monitoring her heart for possible inherited cardiomyopathies, diabetes, and Lupus. Right now we are working with plastic surgery to discuss how we can alleviate pressure on her brain. If you need a starting point, sequencingcom is an extremely helpful. Your geneticist may want to retest and that is OKAY. Sequencing gives them a reason to look into these diagnoses and decide if you truly have that condition. It’s helped us SO much. Thank you to everyone who has sent us messages asking about the girls. They are so happy and too young for all of this to affect them too much. Hope...