Killian, Our ”Little warrior”

The story of Killian

This is Killian , our brave and best boy! He is 13 years old.

At 6 months old he was diagnosed with PTEN Mutation after many genetic and metabolic tests which came back clear.

He was suffering from a rare form of epilepsy (infantile spasms)and had developmentally regressed, the neurologist said due to his regression it was called West Syndrome.

West syndrome or infantile spasms are a rare form of severe epilepsy, described for the first time by West in 1841. Epileptic spasms must be associated with a psychomotor regression and electroencephalography (EEG) hypsarythmia to make the diagnosis of West syndrome.

He has been having thyroid ultrasound scans since he was 3 or 4 and the right lobe nodules were increasing, which required samples to be sent off and came back as a THY3F.

Killian had a thyroid lobectomy in 2021.

He will need lifelong investigations and checkups. He is a happy boy and talks a lot. Drives his brothers crazy (sometimes) Autism overlaps with a PTEN diagnosis, Killian was recently diagnosed with autism.

He has a mild-moderate learning disability.
He goes to St Bernadette’s school for special needs. He has come on leaps and bounds since going there.

He also LOVES Rock music, Listens to AC/DC, Queen, Nirvana, Guns N Roses to name a few.