Identifying Jordan Syndrome: Lucia Adarve’s Journey

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At the age of 18, Lucia Adarve had visited more physicians than many people do in a lifetime. From birth, Lucia faced numerous challenges, missing developmental milestones and experiencing seizures that caused collapses and concussions. She struggled with communication and academic tasks, found balancing difficult, and reacted negatively to stimuli like loud noises and bright lights.

Her mother, Lisa Adarve, was determined to uncover the underlying cause of Lucia’s symptoms. Over time, Lucia received various diagnoses, including epilepsy, lupus, fibromyalgia, ADHD, and dyslexia. Yet, no diagnosis seemed to fully explain her condition, and none of the treatments provided relief. Lisa expressed, “Her stack of medical records was getting bigger and bigger. I thought, ‘There’s no way this one child has all of these labels and issues.'”

Challenges in Education and Life

Lucia’s condition significantly impacted her life. After struggling in multiple schools, Lisa, a former Montessori teacher, decided to homeschool Lucia from third grade. She developed innovative methods to aid her daughter’s development, like teaching her to knit for fine motor skills and taking her horseback riding to improve her balance.

Outside academics, Lisa found ways for Lucia to engage in family activities. For example, she set up a ladder for Lucia to climb in the backyard so she could join her siblings. Despite these efforts, Lucia faced ongoing health challenges, including fainting spells and anemia. She often felt skeptical about medical appointments, preferring the company of her service dog. Lucia remarked, “No one listened to me. I didn’t see doctors as a good thing. I told my mom that my dog did more for me than any of the doctors I spent time going to.”

Uncovering a Rare Condition

In 2025, Lisa and Lucia met Dr. Todd Arthur at Cincinnati Children’s Hospital Medical Center. Dr. Arthur dedicated time to listening and understanding Lucia’s medical history, something both mother and daughter appreciated. He suggested a referral to the Cleveland Clinic’s Undiagnosed Disease Clinic.

Led by Dr. Adnan Alsadah, the clinic aims to assist patients who endure long diagnostic journeys. The clinic utilizes advanced technology like whole genome sequencing to explore a patient’s complete DNA sequence. After a series of screenings, Lucia submitted a genetic sample for analysis.

The Diagnosis: Jordan Syndrome

Four weeks later, the Adarves received a long-awaited diagnosis. Lucia had a mutation on her PPP2R5D gene, associated with a rare condition called PPP2R5D-associated neurodevelopmental disorder, or Jordan syndrome. According to Dr. Wendy Chung, this disorder can lead to an array of challenges, including movement difficulties, speech issues, and, in some cases, parkinsonisms.

Lisa felt relief upon receiving the diagnosis. She said, “It finally felt like, wow, these things were real. I wasn’t being overprotective.” Lucia had mixed feelings, initially feeling happy but later frustrated by the long path to answers.

Planning for the Future

The diagnosis provided a framework for managing Lucia’s condition. Medications helped reduce her seizures, and a multidisciplinary team at the Cleveland Clinic crafted a management plan for her symptoms. Lucia also connected with advocacy and support groups, joined a clinical trial researching treatments, and felt a renewed sense of identity.

Lisa noted that with the diagnosis, Lucia began exhibiting her cheerful nature again. Lucia appreciated being less reliant on doctors, pursuing a degree in criminal behavioral psychology, and functioning relatively independently. She credits much of her progress to her mother’s relentless support, remarking, “I was extremely lucky to get my mom. She’s one of the best people I know.”