She explains to me most children with a CDKL5 infliction have a mutation. She described to me that if each gene was like a book there are chapters and pages. When a child has a mutation it is like they are missing a chapter or pages and those can be pinpointed very specifically, but when a child has a deletion on that book it is missing an entire chapter and with Lily's deletion on exon 1 it kinda means there is no Once Upon a Time. Meaning the book never even starts. This made me sad. She was incredibly kind and informative, she was not being hurtful she was just simply explaining to me an almost impossible subject (genetics) in very plain terms. I was very grateful for her explanation. But I had to follow up with "is this why Lily seems to be more severe than a lot of the other kids" and she simply stated "yes".
That kinda sucked.