Blake's Story

Age 6

My little love right here just gives me all the feels. The day Blake was born was emotional. After getting into our room after the c-section, there were initial concerns brought to us of no soft spot on his head, and that it could be crainiosynostosis (fused skull). That first concern began the journey of where we are today. At 3 months old Blake had his initial reconstructive skull surgery where they separated his skull to help his head grow, and brain grow. Then a few months later he had his tethered spinal cord surgery. Somewhere around there we discovered he had vision issues and got him baby glasses. All of that in less than a year. I almost forgot about the series of ear infections he has had for years and tubes in his ears that fell out and more permanent ones put in.

Blake has received Physical therapy and Occupational therapy since a baby and there were large concerns of mobility. Blake could not Sit up for a long time. We experimented with adaptive moving cars at his therapies, and walkers. Thousands of prayers and therapy sessions later, Blake learned to sit up, walk, run, jump!

Our journey has continued with his skull fusing again which resulted in a bigger skull reconstructive surgery where they scrapped the inside of his skull to create new bone. But it doesn’t stop there. Blake suffered from what we thought was a concussion at preschool and that was our first ambulance ride, then later he fell off a chair at home and couldn’t move the left side of his body. Another ambulance ride. Tests for stroke, seizures, all the things. We now believe the head injuries brought on hemiplegic migraines that can have stroke like symptoms.

We have worked with 20+ professionals including neurosurgeon, plastic surgeon, geneticist, PT, OT, Speech, Psychiatrist, Child Development specialist, Dr’s, and more. That brought us to completing genetic testing to try and get an idea of how to better support Blake. Genetic testing gave us a diagnosis right around pandemic time, provided us with some answers, more testing to complete and a new community.

The words ZTTK were introduced to us. ZTTK…. The clinical definition of ZTTK Syndrome is a severe multi-system developmental disorder characterized by delayed psycho-motor development and intellectual disability.

Blake is such an amazing little dude. He loves with all his being, he laughs with his entire body, and is always on the move. Blake has the best sense of humor, and is the most imaginative kiddo I have ever met.

ZTTK is relatively new in terms of genetic discoveries so the journey continues!