Damian was born in 2017 with an extreme startle response to touch, sound and light. Doctors first diagnosed him with the neurological condition hyperekplexia.
At 3.5 months Damian begun having infantile spasms, confirmed via EEG and was diagnosed with West Syndrome. His MRI and lumbar puncture were all clear, leading his neurology team to arrange genetic testing in order to search for the cause of Damian’s spasms.
In March 2018 Damian received his official KCNA2 epileptic encephalopathy diagnosis. Damian has the gain and loss variant of KCNA2, which has resulted in a range of seizure types and multiple severe disabilities. He has extremely low tone; is unable to support his head, sit upright or walk. He is non-verbal, has cortical visual impairments and light sensitivity, hearing impairments, and is fed via g-tube.
Even with these challenges, Damian is a happy, sweet, loving little boy. He loves snuggles, enjoys spending time and with his family and friends and especially enjoys laughing at jokes. He enjoys listening to music, watching Sesame Street and Bluey, playing with light up toys and going on long drives. He lives with his Mum Renee, his Dad Steve and little brother Hector in Melbourne, Australia.
Damian has taught everyone who loves him patience, understanding and given us all a deep appreciation for the simple things in life. His diagnosis has bought many amazing people into our lives- other KCNA2 families in particular. Caring for a child with a complex health condition isn’t easy, but it is a journey made easier when shared with others on the same path.