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"Her neurologist always said, 'We've never seen anyone like her. The mutation she has is very rare.' But at Geisinger, it's like family. They're completely different because she's not a diagnosis or record number, she's Leah. They know her," says Krista Williams, a Kylertown mother whose daughter suffered her whole life with myriad symptoms, including seizures, visual impairment and intellectual disabilities. After struggling for more than 7 years to find the answer to what Leah was going through, the Williams family submitted a sample of Leah's blood for a whole genome sequencing study for undiagnosed, medically complex children through Geisinger. "She had a bunch of diagnoses but there was still that one missing piece to the puzzle, and through this, we were able to find that out. She has ALG-13 mutation. At the time, there were only 4 or 5 girls in the world with it." A team at Geisinger developed treatment plans and continued research to best help Leah, who can walk now and has progressed in many ways. Krista encourages other families to consider genetic testing at Geisinger. "It gave us some peace of mind and closure. I think it's important for families to get involved in research like this to come up with a plan with their medical team. It helps science the more you work with researchers and doctors collaborating. We felt included from beginning to end. They kept us informed. It wasn't like they were doing a study on her, they were doing it for her." #GeisingerStories
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