Preston has a ‘Heterozygous NIPBL Variant of Uncertain Significance’ gene mutation. To our knowledge, Preston is the only one recorded world wide (so far) with the change in the region of Exon 31.  He has mild physical features of the syndrome, ut does have a few challenges such as, mild hearing impairment, nearsightedness, partial joining of my 1st and 2nd toes, gastroesophageal reflux, and feeing problems (NG Tube fed). He is also developmentally delayed in certain things but excel on some other age appropriate areas. 

Preston knows how to light up any room he is in. His smile is contagious and he is always so happy and laid back. He LOVES his dinosaurs and trucks- which seem to be the only toys he wants to play with these days. His big sister is his best friend and biggest fan, so he has no choice but to love daily make overs, playing hair stylist and dress up LOL. He also really enjoys music! Listening to songs and playing music on his drums and piano seem to get him in a calming state. 

Preston "figures things out" on his own time. He doesn't like to be pushed into doing something, or he pushes himself further back. He likes to think he is the boss, which makes therapy rather difficult for everyone because if we don't want him to delay himself further LOL. Although he isn't much of an outdoorsy kind of guy, he does like going for walks in the stroller so he can wave and smile to passing strangers. 

With having a 1% chance of birth survival, he is our miracle and as much as he continues to learn and understand the world, he teaches us more.

Written by Preston's mom Jessica

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