Our beautiful daughter

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We just got the news after genetic testing that our beautiful 3 year old has Stxbp1. We noticed at 3 months she was not developing like her twin sister and her older brother had developed. She made some gains at 5 months then seemed to regress so we made our doctor refer us to a genetic specialist, JMCC for therapy, and a pediatric neurologist. All of which showed no signs of seizure activity but she does this strange tightening with her body which looks like a seizure but she is responsive. We are feeing quite alone. It seems like if your child doesn’t not have a diagnosis of autisim or down syndrome your child is over looked for the extra supports. We really need to ban together and get the word out there that rare genetic disorders matter too and should be funded the same.