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Maryland, USA

Presenting Hunter, our vibrant, snuggly and silly, 6 year old. From the start, Hunter’s
journey has been an interesting one. Our wonderful unplanned surprise repeatedly tried to
make his entrance into the world way earlier than scheduled. Despite efforts to stop this,
Hunter made his grand entrance almost a month early. At first, all seemed fine and Hunter
appeared to be thriving. After about 6 weeks, we noticed that Hunter was crying a lot after
eating and only seemed to be comforted when being held in an upright type position. The
Pediatrician diagnosed him with acid reflux and Hunter was placed on medication. From
around 5 months to 9 months, Hunter didn’t progress much in terms of hitting milestones
(roll, crawl or even try to sit up), but he loved to be held, snuggled and was nursing well.
At first, we chalked it up to minimal tummy time and lots of holding/snuggling. Our
Pediatrician recommended that we engage our local Infants and Toddlers Program (I&TP)
and also suggested seeing a neurologist. The neurologist did a preliminary exam and told
us that he thought Hunter was just very laid back and would benefit from the I&TP. We
continued to work with the I&TP and saw improvements with babbling, crawling, sitting up,
but he remained very laid back, wanting to be held and snuggled and not much interested in
regular food. Hunter began walking about 2 weeks shy of his 2nd birthday.
In August of 2015, our Pediatrician recommended that we see a Developmental
Pediatrician since Hunter was not progressing with milestones. The Developmental
Pediatrician was stumped as to what could be causing the delays; not believing it was just
global developmental delays. She recommended seeing a Neuromuscular Neurologist
who subsequently ordered an MRI (inconclusive) and an EEG. The EEG demonstrated
abnormal brain activity in the right front frontal lobe region, which led us to see a regular
neurologist. After testing, she was stumped and recommended seeing a Geneticist. After
a long battery of tests, we finally did Whole Exome Sequence Analysis, which compares
the parent’s DNA to the child’s. On March 18, 2016, we were informed that Hunter had a
DNA mutation in the WAC Gene. We were told that there were less than 10 confirmed
cases of what is now called DeSanto-Shinawi Syndrome.
Our world was rocked, especially since there was so little information reported on this
syndrome. We learned there are some common characteristics and medical issues these
children share, but so much is unknown. Hunter is now 6 years old, but functions more at
the level of a 4 ½ to 5 year old. He has low core muscle tone (hypotonia), speech delay
and impairment (but significantly improving with speech therapy), global developmental
delays (he is in a special education classroom, but is integrated regularly with the
Kindergarten since he is learning wonderfully), some gross and fine motor skill delays,
minor gastrointestinal issues (hard bowel movements), short stature (Endocrinology
follows him for growth delays), Complex Partial Seizures, Generalized Seizures and
Myoclonic Seizures, as well as Sleep Apnea. While Hunter has greatly improved over the
last 3 years with many different therapies and wonderful school intervention, he still
struggles and will most likely continue to do so. But, let me tell you, our little guy is so
happy, loving and sweet, and that is all that matters.

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