Matilda is a beautiful, happy, and loving little girl who makes our hearts sing. She had her first tonic-clonic seizure at 18 months old, but even before that, we noticed her eyes would ‘flutter’ from just a few weeks of age. At around 3 years old, Matilda was diagnosed with KCNA2 epilepsy. She is currently the only known case of KCNA2 in New Zealand.
In addition to having severe, hard-to-manage epilepsy, Matilda also experiences global developmental delay and intellectual disability. She has delays in both fine and gross motor skills, lives with ataxia, and is non-verbal—though her understanding of language is excellent.
She has mixed seizure types and takes four different medications. In addition, she receives a 12-weekly pulse infusion of methylprednisone to help manage her sleep-activated seizures. This has a noticeable impact on her overall well-being. Despite all of this, Matilda is not seizure-free, but she continues to face each day with joy and strength.