Story perspectives

Genome Sequencing Confirms Jordan Syndrome, Cuts Seizures

5/24/2026

Summary

Story summary

Whole-genome sequencing at the Cleveland Clinic’s Undiagnosed Disease Clinic identified a PPP2R5D mutation, confirming Lucia Adarve’s Jordan syndrome.
The 18-year-old patient now receives multidisciplinary care at the clinic.
Her mother, Lisa, had previously been referred by Dr. Todd Arthur of Cincinnati Children’s Hospital to the clinic.
Since the diagnosis, Lucia’s seizures have lessened.
She has joined advocacy and support groups and is pursuing a degree in criminal behavioral psychology.

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Story summary

Whole-genome sequencing at the Cleveland Clinic’s Undiagnosed Disease Clinic identified a PPP2R5D mutation, confirming Lucia Adarve’s Jordan syndrome.
The 18-year-old patient now receives multidisciplinary care at the clinic.
Her mother, Lisa, had previously been referred by Dr. Todd Arthur of Cincinnati Children’s Hospital to the clinic.
Since the diagnosis, Lucia’s seizures have lessened.
She has joined advocacy and support groups and is pursuing a degree in criminal behavioral psychology.