DeSanto-Shinawi Syndrome

sleeping baby


I could reel off all the things you can read online about it but I think it makes more sense to say what other parents have said and how their statements relate to us.

When we sat across from our geneticist in August 2019, he passed us a study from 2015 to explain the syndrome he’d just mentioned (which took me about 15 attempts to memorize) words jumped out from the page like hypotonia, speech delay, developmental delay and intellectual disability. Rather than feeling afraid, I felt a deep sense of relief. FINALLY, it was all starting to make sense. When I stumbled across the incredible website dedicated to DESSH and read the many stories of the families of children with DESSH, I could have wept for days. It was like someone just got it. Here are some extracts that had me jumping up and down shouting “YES!!!”.



“…she has gastric issues with irritable bowel syndrome, struggles with tooth decay, and has a high BMI.”

“The first months of his life were hard because he had nutritional problems. He was crying a lot. This improved after about 9 months […] By that time,we noticed that he didn’t develop like other children. Especially his muscles, which were very weak.”

“On his first birthday, he could only roll from front to back.”

“Everything seemed perfect and normal with our little princess until around 6 months when she was still having trouble sitting up.”

“The paediatrician diagnosed him with acid reflux and [our son] was placed on medication. From

around 5 months to 9 months, [he] didn’t progress much in terms of hitting milestones […] At first, we chalked it up to minimal tummy time and lots of holding/snuggling”.

“ [Our son] has struggled with severe constipation, eating/diet can be a struggle at times due to his sensory issues, he dislikes foods with a ‘slimy’ texture and opts for dry foods and will not try fruit or vegetables”.

“Sleep has always been one of our biggest struggles…”

“[He] has had a terrible time with sleep since birth…”

“…severe night terrors…”

“Her face is very different than both mum and dad. She has the classic DESSH nose and wide mouth…”



With Kasper's diagnosis, we joined a new club and finally, our questions were answered 


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