Alex’s Story
My daughter Alex is 20 years old. She wasn’t diagnosed with KCNA2 gain of function until this past year. She had many seizures and not knowing the cause of the seizures, they tried different medications. We were very lucky to find a medication that controls her seizures. She became delayed in her developmental milestones, again no diagnosis or a reason why. She had muscle ataxia that affected her gross and fine motor skills and speech ataxia. She had severe coordination problems and slow speech. She has a cognitive impairment. The only diagnosis was epilepsy and mild CP. We saw many doctors and they all tried many things and ran tests to figure out what was happening, but no answers. We weren’t even sure of her future at this point. The KCNA2 diagnosis has given her the ability to get physical therapy and hope that a clinical study or case study will become available in order to treat her. Alex is a beautiful and social young lady. She has a big heart and anyone who meets Alex enjoys her personality immediately Alex has a couple of jobs she loves doing. She takes pride in her work. Alex has a rare genetic disorder, but she likes to be with friends and enjoy activities just like other kids.
