Juju started seeing a neurologist, but Cristina watched as his condition declined. Over the next year and a half, they went to the emergency room over 80 times — still without answers.
Finally, in April 2021, Juju’s neurologist offered him genetic testing. His results showed two variants. The first was p.Pro202Leu, a variant of uncertain significance (VUS), meaning it had no known connection to a health condition. The second was Arg208*.
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