Shimmy

Shimmy was born on June 16, 2014. He is the 5th of 6 children. At birth, he had meconium aspiration and was on oxygen for a few days, but other than that, all seemed normal. As a baby, he was on the quiet side, but nothing too out of the ordinary. After about 8 months or so, we started to get some early intervention therapies for him since he appeared behind developmentally, but figured he would catch up soon enough. Eventually, when he was 2 years old, we decided to take him to a developmental pediatrician to get an explanation for his delays, especially since he was not talking.  The visit with that pediatrician helped very much, and she told us he had hypotonia, mixed expressive-receptive language disorder with autistic like behaviors, mental developmental delay, and recommended that we should do various other tests, including genetic testing to try and determine a cause. We did the genetic testing, and it came back as abnormal. The lab results showed he had an interstitial duplication of 15q.

The news came as a surprise, but also as a blessing, that we now finally had an explanation for all of his delays. However, we had no idea what dup15q was and quickly began trying to figure out what it was. Within a day, we discovered the dup15q alliance website and we read everything we could about dup15q. It was amazing that so many of Shimmy’s symptoms (autism, hypotonia, developmental delay) fit into the dup15q syndrome.  Subsequent to the genetic testing, Shimmy received an official autism diagnosis. Shimmy currently goes to a special education school half day, and has ABA therapy most of the week as well. He is such a sweet boy who loves to climb, and play with musical toys. We are hopeful for his future, and are excited for the unique journey ahead with him. We are also grateful for the dup15q alliance. We would be lost without all of the information and assistance that it provides.