An ASO Success Story
- Jul 28
- 2 min read
Meet Eva
Eva has SCN2A, a rare disorder that, like ours, comes from a change in an ion-channel gene... a sodium channel in her case, rather than the potassium channel encoded by KCNH1. Eva’s early years will feel familiar to many in our community: seizures from the first days of life, developmental delays, vision impairment, dystonia, and long stretches in hospital.
The Start of Her Journey
In late 2023, Eva became one of the first children in the world to receive an experimental ASO for SCN2A, designed to suppress the creation of the overactive channels driving her seizures and other symptoms. Following treatment, her major seizures dropped from twenty or thirty a day to only a handful; she was able to come off several medications; her GI symptoms decreased; her mood improved; and in her walker, she went from a personal best of 14 steps to 60 in a single PT session.
"A look at what 'possible' can mean. "
What This Means
Her gene is not ours, and no two children are the same, so this isn't a promise of the same outcome. It's simply evidence that this approach can work, and a look at what "possible" can mean. As her mother says, they never expected treatment to make Eva "normal"... they hoped for a better quality of life, and that is what they describe.
But one thing worth noting for our families. Most KCNH1 variants also result in channels that are overactive (i.e., a “toxic gain of function”), and the same strategy that helped Eva, suppressing the creation of these toxic channels, is one of the most promising approaches that researchers are developing for KCNH1 disorders.
But one thing worth noting for our families: most KCNH1 variants also result in channels that are overactive (i.e., a “toxic gain of function”), and the same strategy that helped Eva, suppressing the creation of these toxic channels, is one of the most promising approaches that researchers are developing for KCNH1 disorders.
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