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California, USA
18 Months
August 5, 2020

Steven

Steven was diagnosed at 15 months old (May 12, 2020) with SynGAP1 mutation after getting whole exome sequencing at the beginning of the year following a normal MRI.   Steven has global developmental delays including delayed gross motor, fine motor, language and learning skills.  He has oral aversions and difficulty swallowing.  He also has extreme difficulties sleeping at night.  He does not sleep more than 4-5 hours a night and sometimes he can have a lot of difficulty falling asleep to take a nap.

Steven loves water, animals and being outside—he loves going outside no matter the time of day or night! Bath time, swimming, splashing in the soapy dish water are all so much fun for Steven. He is a lucky boy and has two cats and two dogs in his house and he will vocalize at them and loves pushing his forehead into them to show them love.  He is overly sensitive to the wind though and will often have an exaggerated reflex to the feel of the wind on his skin.

He is very social and can be quite loud when he gets excited.  His smile spreads from cheek to cheek. Steven does not have words yet, but he does make several sounds to indicate his many emotions. One of his special Syngapian powers is his ability to communicate with just a look.

Steven’s absolute favorite person is his older brother Tyler. Tyler and Steven love to play peek-a-boo. Steven learned to stand from using the couch to look for his brother during the games they played together.

Steven is starting taking a few independent steps on his own. He is not quite walking, but our hope is with time, will walk on his own one day.  This is a huge milestone for us.

He teaches us everyday about unconditional love, patience, and seeing the world through his eyes.  He is perfect just like his brother and together they are going to change the world (hopefully they won’t set it on fire, because they can be thick as thieves sometimes and I wonder what kind of mischief is coming).

- Mom

Learn more about Steven in these articles by his mom. This article is about his Diagnosis Journey & this article is a reflection on her feelings upon diagnosis.

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