Introducing Cedric

Here’s a bit about Cédric, or as we call him The Dude, and his journey (in Ontario, Canada).

Very early on, we noticed that Cédric was not reaching milestones at the same pace as his peers. By 18 months old, we were able to consult a developmental therapist, a physiotherapist and a speech and language pathologist. They confirmed delays in all areas and we started therapies and a quest for a diagnosis.

We first got, with difficulty, a diagnosis of developmental delay which allowed him to start school with the help of an Educational Assistant. We had to keep pushing and eventually got an autism diagnosis which opened doors to funds and services. This was our reality and our sense of Cédric’s identity for years, but we always felt he was still a special case within that group.

After he started having epileptic partial seizures at 9 years old, genetic testing was done and we received a DLG4 frameshift mutation diagnosis in November 2018, just before he turned 11. And this has felt like coming home, like finding him and his identity, as it medically explains all his challenges. It also allowed us to find our family in the small but mighty community of other families affected by DLG4 mutations.

In Cédric’s case, the mutation causes a severe intellectual disability, neurodiversity (autism) and epilepsy. He is very hyperactive, anxious, non verbal, not toilet trained, hypermobile and low tone, and had gastro- intestinal issues. And his epilepsy has been a difficult new challenge as his seizures are hard to control and are drop seizures (which paired with no sense of danger, bad motor control and hyperactvity is a bad combo).

With all that said, Cédric is a generally happy, pretty easy going and very affectionate guy who gives the best hugs and kisses. He loves anything sensory stimulating (car rides, swings, trampolines, roller coasters, music), especially water (swimming, showers, baths). Our happy place is definitely Disney World. And he is literally diagnosed in black and white as charming and handsome (by the psychiatrist on his autism diagnosis) which he uses to get away with quite a lot!