Home / Health / Girl's Medical Mystery Solved: It's Jordan Syndrome
Girl's Medical Mystery Solved: It's Jordan Syndrome
24 May
Summary
- Patient struggled for 18 years with numerous undiagnosed conditions.
- Genetic testing identified rare Jordan syndrome (PPP2R5D disorder).
- Diagnosis led to effective treatments and a clear path forward.
Lucia Adarve faced a complex medical journey from birth, experiencing seizures, developmental delays, and a wide array of symptoms that defied clear diagnosis for 18 years. Despite accumulating numerous labels such as epilepsy and ADHD, no specific condition fully explained her condition, leading to frustration and a sense of being unheard.
Her turning point came in 2025 with a visit to Dr. Todd Arthur at Cincinnati Children's Hospital. This led to a referral to the Cleveland Clinic's Undiagnosed Disease Clinic, a specialized center aimed at resolving lengthy diagnostic odysseys for patients with ultra-rare conditions.
Utilizing whole genome sequencing, the clinic analyzed Lucia's DNA and, four weeks later, identified a mutation on her PPP2R5D gene, confirming the incredibly rare Jordan syndrome. Less than 500 cases are known globally.
This diagnosis has brought immense relief and a clear plan for Lucia. Medications have reduced her seizures, and a dedicated team is managing her other symptoms. She has also found community through advocacy and support groups for Jordan syndrome.
Lucia is now pursuing a degree in criminal behavioral psychology and is part of a clinical trial. Her mother's unwavering support and advocacy were instrumental in navigating her challenges and achieving functional independence, a testament to the impact of persistent care.
