About

Eloise has a very rare chromosome deletion with no name. At best, she will reach the developmental age of 12 months old and all that entails. Her deletion begins on the long arm of chromosome 2 in the band 2q24.3 partway through the gene SCN1A (associated with Dravet Syndrome) and lasts through 2q31.1, 2q31.2, 2q31.3, and 2q32.1. She has 19MB of DNA missing. Her deletion points are 166,015,395 - 185,131,531. Eloise had a single seizure at 8 months old, but her seizures didn't really begin until she hit 9 months of age. As her parents, we blog regularly to sort through our own emotions, but also largely to leave a diary for other parents like us who are looking for information when their own child is newly diagnosed. So, if you're a caregiver of a child or adult who also has this deletion or a researcher, please please get in touch. We'd love to connect. Check out all the links in this profile for facebook, blog, instagram, and email for us.

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