Members of patient advocacy group for rare seizure disorder gather in Orlando to push for cure
Members of a patient advocacy group with the goal of finding a cure for a rare seizure disorder are gathering in Orlando this weekend.
The Coalition to Cure CHD2, which was founded in late 2020, is working to drive research into CHD2-related disorders with the goal of finding a cure.
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According to the organization, CHD2 is a rare genetic cause of epilepsy and one of the more common genetic causes of autism.
More than 130 people are signed up to attend the conference at Disney’s Coronado Springs Resort, including people from as far away as Australia, families and scientists.
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Organizers said CHD2 and other rare genetic diseases, including epilepsy, autism and cerebral palsy, are underdiagnosed due to lack of genetic testing. In addition to raising awareness about CHD2, organizers are hoping to bolster knowledge community knowledge about genetic testing options.
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