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36 years old

Michael recently turned 36 years old. In June of 2019, we finally found the answers we’ve been searching for all along, Syngap1. This came as a huge surprise! I was shocked to read about a syndrome that described my son perfectly, low muscle tone, autism, intellectual disability and seizures…I was stunned, there were other Michael’s in the world.

Michael has had a number of diagnosis over the years;

2 months-sensory processing disorder (tactile and auditory)

18 months – Developmental Disability

24 months-Intellectual Disability

3 years of age – first seizure (Absence Seizure)

7 years of age – (Functionally) Non-Verbal Autism Spectrum Disorder

9 years of age – Partial Complex Seizure Disorder

12 years of age – Generalized Anxiety Disorder

13 years of age – Refractory Seizure Disorder that includes Absence, Drop, Atonic and Myoclonic Seizures.

35 years of age – Syngap1 Syndrome

Michael thrives in a structured and predictable environment. Michael does not functionally communicate, but uses echolalia and repetitive phrases from his favorite movies to socialize. For receptive language, I use Boardmaker Icons and Teacch Strategies through visual schedules, mini-schedules and routines to provide him with information and direction. I also use written lists and drawings to communicate with Michael and Michael writes and draws to express himself.

Michael is a beloved son, brother, cousin, grandson, nephew and uncle. His early life was not easy for him, nor was it easy for us trying to figure out how to help him, especially with his aggression. At six-foot, one-inch and 205 pounds, he was challenging. Today his aggression has decreased substantially, he still has 20-30 Atonic seizures daily (40-50 on a bad day), 2-4 drop seizures a week. All of these still even with three anti-seizure medications and a Vagus Nerve Stimulator.

– Mom