This is my Taylor. Diagnosed with DNM1 in March of 2016. Taylor is 4 years old and one of the happiest kids on the block. Our journey began when Taylor was 10 weeks old, December 26, 2012, that was the first of many seizures for him. Rushed to hospital and lists of tests and nothing was found. A few years and lots of prying with doctors to get more test done, we were put in a study at the University of Alabama for a genome sequence. A year later we received the variant in chromosome 9 DNM1 diagnosis. With that information they had nothing more to give us other than a facebook page with other parents of DNM1. Taylor has been 2 years seizure free this April 2017. He is currently taking keppra 2x daily, vitamin d, b, and folic acid.
Taylor is severely developmentally delayed, also diagnosed with Autism in October 2016. He learned to walk at age 2 years 9 months, and only learned to sit up and crawl a few months prior. His movements are ataxic but over the past 2 years and lots of therapy they have gotten better. He is nonverbal but can lead you to what it is he wants. He has attended daycare programs and is currently enrolled in preschool with same age children. He has an aid with him at all times to help him with his needs. Everyday I see progress with him and know he understands me, even if he can’t respond. He does acknowledge and do simple commands. He also loves to watch Mickey Mouse, Paw Patrol, and anything having to do with cars.
DNM1 genetic mutation 