Full Breakdown
Jordan Syndrome Diagnosis Ends 18-Year Diagnostic Odyssey for Lucia Adarve
5/24/2026, 8:46:36 AM
Diagnosis Confirmation: PPP2R5D Mutation Identifies Jordan Syndrome
In 2025, 18-year-old Lucia Adarve received a diagnosis after whole-genome sequencing revealed a pathogenic PPP2R5D variant, confirming Jordan syndrome, an ultra-rare neurodevelopmental disorder with fewer than 500 reported cases worldwide.
Early Life and Diagnostic Odyssey
Since infancy Lucia experienced seizures, balance problems, sensory sensitivities and learning difficulties. Over years she accumulated diagnoses of epilepsy, lupus, fibromyalgia, ADHD and dyslexia, none explaining her full symptom set. Her mother, Lisa Adarve, a former Montessori teacher, homeschooled her, used adaptive therapies and a service dog, while managing a growing stack of medical records.
Referral and Specialist Team
Dr. Todd Arthur at Cincinnati Children’s Hospital reviewed Lucia’s case and referred her to the Cleveland Clinic’s Undiagnosed Disease Clinic. There, Dr. Adnan Alsadah, director, oversaw whole-genome testing, while Dr. Wendy Chung described Jordan syndrome features, including macrocephaly, facial dysmorphisms and risk of seizures, autism and later parkinsonism-like movement issues.
Rarity and Diagnostic Gap
Jordan syndrome arises from PPP2R5D mutations that disrupt cellular signaling. Fewer than five hundred individuals worldwide carry pathogenic variants, leaving epidemiological data sparse. Dr. Alsadah noted that patients with ultra-rare diseases often endure over a decade before diagnosis, highlighting a systemic gap.
Treatment Plan and Trial
Following diagnosis, a multidisciplinary Cleveland Clinic team created a care plan. Antiepileptic medication reduced seizures, and therapies addressed speech and motor challenges. Lucia enrolled in a trial testing a drug approved for another neurodevelopmental disorder, aiming to assess benefit for Jordan syndrome patients.
Official Statements
Dr. Alsadah emphasized the clinic’s aim to shorten the diagnostic odyssey through genomics and coordinated care. Dr. Chung highlighted Jordan syndrome’s variable severity, noting that some patients achieve functional independence while others face profound impairment. Both clinicians affirmed that a confirmed diagnosis enables tailored interventions and research enrollment.
Systemic Challenges
The case underscores obstacles: limited clinician awareness of ultra-rare conditions, scarce specialized testing, and insufficient longitudinal data on disease progression. The paucity of confirmed cases hampers evidence-based guideline development, leaving families without clear prognostic information.
Verbatim Quotes
- “No one listened to me.” — Lucia Adarve, patient
- “On average, it's more than 10 years until the diagnosis” — Dr. Adnan Alsadah, director, Undiagnosed Disease Clinic
- “I felt really happy about it for a month or two,” — Lucia Adarve, patient
- “She knows what she has, so she can kind of stand up and advocate for herself,” — Lisa Adarve, mother
Future Steps
Lucia now pursues a degree in criminal behavioral psychology while engaging in Jordan syndrome advocacy. She contributes to registries, supports peer-to-peer groups and continues the clinical trial, hoping her involvement accelerates therapeutic research for the patient community.
