I called University of Chicago’s genetic lab department because I wanted to know why Lily’s diagnosis was so plain. A deletion involving exon 1 on her CDKL5 gene. Most other CDKL5 families have a far more intricate diagnosis and I was jealous. OK probably wrong word choice, but I did want to know more than I thought I was being told. Lily’s pediatrician (whom I called first) said he had no more information than I did and maybe try calling them. Knowing I would they gave me the number. I left a message and just a few hours later the director if clinical services and education called me! I was so impressed and stumbling for the proper words to use. “Yes ahem, I was only curious to know if you could perhaps be so kind….” yeah right, I said ok all these other families I know have these crazy diagnosis with letters and numbers and periods Lily doesn’t, what’s up with that?
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.