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United Kingdom
4.5 Years Old
December 18, 2019

Reuben

At 9 months we noticed Reuben was not hitting his childhood milestones. He struggled to sit up and feeding was an issue. We saw many professionals over years and Reuben had MRI scans, many blood tests, Lumbar punctures, initial genetic screening tests and other procedures but these didn’t give us any answers to his development delays. In 2014 we were entered into the UK DDD (Deciphering Developmental Disorders) study and 18 months later Reuben was diagnosed in 2016 (aged 4.5) with SYNGAP1.

Reuben has a mutation in SYNGAP 1 which has caused him to have an intellectual disability, global developmental delay, autism, behavioural abnormalities, hypertonia, impaired language development and sleep issues. Reuben has some words but mainly communicates through his Makaton and his PECS.

Like most children with SYNGAP1 Reuben loves water, animals especially horses, goats, cows, sensory activities and has the most infectious laugh and giggle. Reuben loves music and has brilliant rhythm, he enjoys dancing to his favourite songs.  He is a thrill seeker which we discovered recently, he signs more when the rollercoaster stops!

Some days are quite challenging as Reuben gets very frustrated and lashes out at us and others too. He struggles with transiting from his favourite places and thrives on routine. He has no danger awareness and is very strong willed and determined.

We are truly blessed to have him in our lives and he brings happiness in so many ways. He has made us see things in a new way, taught us so much and is our little hero who has overcome so such. He continues to make us proud every day with new milestones and achievements.

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