Our son Flynn was around two years old when we realised he had sensory and behaviour issues. He was diagnosed at about four with autism and then at six with ADHD. Flynn had food issues, his hunger was insatiable and he would eat non-edible items. He could be violent towards others without realising his strength as he was a big boy. He also had febrile convulsions from six weeks old and later had vacant seizures that lasted for hours and was diagnosed with epilepsy at seven years old.
We knew there was something else going on so he was referred to a geneticist who tested him for a few other things that came back negative, but she was sure he had a type of overgrowth syndrome. I went home and researched and came upon the Tatton Brown Rahman Syndrome (dnmt3a) group on Facebook - I knew instantly this is what Flynn has as the features of the others were so like Flynn.
I then contacted a parent of another child in the US who gave me the contact details of the doctor who discovered the mutation. Flynn’s blood along with my and my husband’s blood was then sent to Birmingham University for testing which confirmed the diagnosis in 2017.
So little is known about this syndrome, Flynn was the first in the Southern Hemisphere. I believe there are now four diagnosed people in NZ and around 180 worldwide. There are different variants of TBRS ranging from mild to severe intellectual disabilities, heart conditions, epilepsy, autism etc.
Flynn has unfortunately never been a fit for the NZ education system boxes so has not been able to access ORS funding even though he has not progressed past a seven-year-old level, academically or emotionally. He is currently a year 13 in a special needs class in a mainstream school, but we are worried as to where he goes next.