Toby's Story

We are the Owen family from Scotland. We now live in Texas. We are Mom , Dad, sister and Toby (our boy with ZTTK syndrome).

Throughout pregnancy Toby measured small and his nuchal translucency was high. I had a Chorionic Villus Sampling test to test for chromosomal abnormalities and certain other genetic problems. This all came back inconclusive. Toby was born at 37 weeks 4 days weighing 3lbs 15.

Toby was born in Scotland in 2015. We moved to Texas when he was 15 months old. Toby was born small and sent straight to neonatal to grow. It was whilst in the neonatal they came across various abnormalities that led them to believe there was an overriding syndrome for all the abnormalities. We received basic genetic testing in Scotland that came back inconclusive. It wasn’t until we received more testing in Texas that we received our ZTTK diagnosis in November 2016.

Toby is a very happy and cheeky boy. Intellectually Toby is a few years behind his actual age and milestones are delayed. He walked at 2 years 7 months. He wears orthotics and hearing aids. He says around 10 words and uses around 40 signs to communicate. His comprehension is very good. He is medically complex and has had surgeries for heart defects (surgery at 8 weeks old for that), craniosynostosis surgery, ureter surgery, hypospadias surgery, few sets of ear tubes fitted, adenoid removal. Toby has always been slow to gain weight. He was ng tube fed for the first 8 months of life. He eats and drinks well but slow weight gain and failure to thrive. Toby wears a protective helmet as he is prone to head concussions and he loves to climb!

Toby goes to Elementary school and is in a life skills class. He loves to go to school and ride the school bus. He goes to speech, physio and occupational therapies. His favorite things are television, his sister and his thumb!

We are very pleased, excited and so grateful to learn that more research will be done on ZTTK syndrome. It may not help our boy but it will sure help other families in the future and that is certainly our hope.