Benjamin’s journey

The story of Benjamin

Benjamin was about 3 months old when he had his first seizure (that we know of), he was sent to sick kids hospital in Toronto where they tried pretty much every seizure medication until a combination of them worked to keep his seizures under control. He had so many tests done which all came back normal, so we tried genetic testing. Ben was discharged from sick kids after about 2 weeks with 3 seizure medications and a rescue medication to use at home.

About a month after being home we got a call with the genetic testing results and were told he had a rare genetic mutation called RHOBTB2 which causes; Epilepsy, developmental delay and intellectual disability, small head and growth delay, and movement disorders.

The most current statistics are from 2020 which says there are only 13 children in the world have this gene variant, we know there are more now but there hasn’t been any statistics done. There is less than 1% chance of this gene getting carried on. This gene mutation has no cure, but knowing the diagnosis has helped us get Ben the appropriate monitoring and treatment for his epilepsy, movement disorder and developmental delays. Which includes monthly physiotherapy, occupational and speech appointments, seeing Ben’s neurologist and getting an EEG every 3 months at sick kids, yearly MRI’s also at sick kids, And also see’s a dietitian and a naturopath every 3 months! Ben has recently got fitted for paediatric wheelchair/high chair to keep his posture corrected when we are walking and when he’s eating, he also uses a Leckey activity system to play and exercise! He also has used a compression suit which we have noticed helps with his movement disorder.

Today at 15months and 16lbs, Ben is rolling, holding his head and neck up, putting weight on his arms and his knees, and most recently babbling! He also just started eating some solids!! He is doing so well and is such a sweet little guy with a huge personality, he loves to play with trucks and anything that lights up or sings. He also likes to watch paw patrol and cuddle with his big brother!