Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
My name is Renee. My husband Steve and I are the proud parents of two sons, Damian and Hector.
Damian was born with an extreme startle response, triggered by light, sound and touch. At first, his doctors suspected epilepsy. However, contrary to regular seizures, Damian would settle the moment he was snuggled tight.
At three and a half months, Damian began having infantile spasm seizures. We organised exome testing that found he had a mutation on his KCNA2 gene, which causes KCNA2 epileptic encephalopathy. The KCNA2 gene codes potassium channels within our brains. Damian’s mutation causes his potassium channels to produce a defective protein. This results in abnormal levels of neurological excitability, global developmental delays, hearing and vision impairments, regular seizures, failure to thrive, myoclonus and the inability to control any of his muscles. Except for his smile.
He manages to control those muscles very well and melts the hardest of hearts.
KCNA2 epileptic encephalopathy was only discovered a couple of years ago. There are three variations and Damian suffers from the rarest and most debilitating form. Only a handful of children have been reported worldwide to have this variant. Steve and I were also tested for this mutation which came back negative. This condition is ‘de novo’ in Damian.
There is currently no cure or formal treatment, but snuggles still help make the bad days a lot more bearable!
Getting Damian’s diagnosis was bittersweet. We finally knew what was causing his seizures and delays, but with that diagnosis came the knowledge that this wasn’t something Damian was ever going to grow out of or that we could cure.
I managed to find a small Facebook group of other KCNA2 parents, which led me to find fellow Victorian KCNA2 Mum Christine, who recommended I also join the SWAN group.
Up until finding the SWAN group, I’d isolated myself from parenting groups. I didn’t want to have my precious little boy, unable to hold up his head or open his sensitive little eyes, compared to other neurotypical babies.
Finding the SWAN parents group has opened us up to a world of beautifully unique families, all united by pure love for the amazing rare children who have managed to bring us all together. There is a profound humility and strength (and some terribly bad jokes) that come with finding other families treading a similar path, and for that, we are so grateful to be a part of the SWAN family.
For further information on KCNA2 epileptic encephalopathy, please feel free to visit our website.