River was born June of 2017. He was mostly an uncomplicated pregnancy besides having low fetal movement but not low enough to cause concern. River's first few months of life were unremarkable. However, at 2.5 months he was no longer able to have bowel movements without assistance. It took switching pediatricians a few times to find one who would listen to our concerns. At 5 months old River was diagnosed with Floppy Baby Syndrome and severe hypotonia. River's care was transitioned to St. Luke's Children's Hospital in Boise, ID. After a year and a half of testing and seeing multiple specialists River was selected to be part of a research grant that offered whole exome genetic testing free of charge. This is when we were given the diagnosis of DESSH in August of 2019.
River is in physical, occupational, speech, and feeding therapy. He is also followed by a BCBA (Board Certified Behavioral Analyst), and part of a Parent Child Interactive Therapy clinic. River uses AFOs and a gait trainer for assistance with ambulation. In December of 2019 he took his first steps without his walker! River's developmental age is estimated to be between 12-15 months. He currently has about 5-10 words in his vocabulary and utilizes sign language and photo boards to communicate. Our current struggles are his severe extropia, constipation with recurring GERD, poor verbal skills, and his continued dependence on prescription formula.
Even though River is still mostly non-verbal he is a very social toddler. He loves to play with his 3 brothers, grandparents, aunts, uncles, and his dog. He loves Toy Story, hide and seek, peek a boo, and hiding toys around the house for his brothers to find. River is surprisingly strong willed and has a tenacity that is unmatched. He never ceases to amaze his parents and providers.