Teen, 19, Was Given an Array of Diagnoses for Her Mystery Illness. Years Later, She Finally Learned She Had an Incredibly Rare Condition

**Teenager Finally Diagnosed with Rare Condition After Two Decades of Struggles**

After nearly twenty years of medical uncertainty, 19-year-old Lucia Adarve has received an answer to her complex health challenges, leading to a clearer path towards her future. Born with a range of symptoms including seizures, poor balance, and communication difficulties, Lucia’s medical journey has been fraught with misdiagnoses and unanswered questions.

Lucia’s mother, Lisa, recalled the tumultuous experience surrounding her daughter’s birth. Lucia was diagnosed with hypotonia, resulting in low muscle tone that caused significant challenges, including a broken bone shortly after birth. As Lucia grew older, she faced a slew of symptoms that various physicians attributed to multiple conditions, including epilepsy, lupus, and ADHD, among others. “I listed everything because nothing made sense,” Lisa reflected. Despite numerous consultations, Lucia failed to improve, leading Lisa to homeschool her daughter from the third grade onwards.

In her youth, Lucia felt frustrated and unheard in the healthcare system. “No one listened to me,” she remarked, expressing a growing scepticism towards medical professionals. She often found more comfort in the companionship of her pet dog than in her medical treatment, which seemed ineffective at addressing her symptoms.

In 2025, a key moment came when the pair consulted Dr. Todd Arthur at Cincinnati Children’s Hospital Medical Center. Lucia noted that Dr. Arthur took the time to listen to her and her mother, leading him to thoroughly investigate her symptoms. This approach proved pivotal, as he referred her to the Cleveland Clinic’s Undiagnosed Disease Clinic. The clinic aims to assist patients who struggle for years without a definitive diagnosis, a process that typically exceeds a decade.

As part of the diagnostic process, Lucia provided a genetic sample for further examination. The clinic worked with genetic counsellor Curtis Weaver to conduct whole-genome sequencing, a comprehensive genetic test that analyzes a wide array of data for potential explanations for her condition. “The patient’s sample and medical history are then sent to a specialized laboratory,” Weaver explained, underscoring the meticulous nature of the investigation.

Weeks later, the long-awaited diagnosis arrived. Lucia was identified as having PPP2R5D-associated neurodevelopmental disorder, commonly referred to as Jordan syndrome—a rare condition that affects fewer than 500 individuals worldwide. This diagnosis finally provided clarity for Lucia and her family, allowing medical professionals to formulate a definitive treatment plan.

Reflecting on her journey, Lucia expressed mixed emotions about the diagnosis. “It finally felt like, wow, these things were real,” she shared. Despite the relief from finally being acknowledged, there was also an underlying annoyance at the protracted journey. “I didn’t really trust doctors anymore,” she added, highlighting the scepticism that had built over two decades.

Since receiving her diagnosis, Lucia’s situation has shown improvement. Seizures have become less frequent, and she has begun participating in a clinical trial that explores potential treatments for Jordan syndrome using medications typically prescribed for other neurodevelopmental disorders. Her newfound understanding of her condition has allowed her to advocate for herself, and she is now pursuing a degree in criminal behavioural psychology at Purdue Global.

Lucia’s mother noted the positive changes in her daughter, stating, “She’s getting back to who she was. She’s helping others, and she’s making friends.” The progress Lucia has made demonstrates not just her resilience, but also the power of effective diagnosis and treatment.

Looking back on their experiences, Lucia feels immense gratitude for her mother’s unwavering support throughout her health struggles. “I was extremely lucky to get my mum,” she said, acknowledging the vital role Lisa has played in her journey.

As Lucia embarks on her academic pursuits and navigates life independently, her story serves as a poignant reminder of the complexities surrounding rare diseases. Dr. Adnan Alsadah, founder and director of the Cleveland Clinic’s Undiagnosed Disease Clinic, emphasised the significance of such cases. “More than 25 million Americans live with rare diseases, so ‘rare’ is more common than you might think,” he noted. This could inspire hope for countless others facing similar diagnostic odysseys.