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New Jersey, USA

Leo was diagnosed with DESSH July 2016, when he was 14 months old, however's Leo's journey began much sooner than that during his 20 week ultrasound in utero. Doctors noticed the ventricles in his brain were larger than they should be (ventriculomegaly). Follow-up MRIs were taken in utero to monitor whether this got better or worse. An ultrasound of his brain the day he was born confirmed that, while his ventricles were still enlarged, there was no worsening change and we were thrilled. He was born full term via vaginal birth and his delivery was without incident. He was typical in all respects, except he could not breastfeed. 

At around four months old we realized Leo's gross motor skills were delayed. He could not pick his head up when lying on his stomach and his movement was so limited he developed plagiocephaly. We took Leo to Pediatric Neurologist Dr. Bernard Maria who diagnosed him with hypotonia. Given the ventriculomegaly and now hypotonia we were on the hunt for answers and genetic testing was recommended. Our first level of genetic testing revealed Leo has XYY syndrome, or an extra 'Y' chromosome. But to our geneticist that didn't fully explain his symptoms. Whole exome sequencing was ordered for Leo and it was then determined he has a mutation of the WAC gene, or DeSanto Shinawi Syndrome.


Learning the best treatment is therapy, Leo began receiving multiple therapy sessions per week both privately and through NJ's early intervention program. He received physical therapy, occupational therapy and later speech therapy. Leo was able to sit at 8 months, crawl at 18 months and walk at 27 months. Now he is well on his way to running and jumping! Since he turned 3 years old Leo attends a full day preschool program and splits his day between an ABA classroom and a preschool disabled classroom. While his speech is still unintelligible to many, he is a social butterfly! He loves to listen to music, sing songs and dance. He also loves playing with his little sister. For more about Leo visit

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