Teen’s mystery illness diagnosed after a lifetime of symptoms: “It took 18 years to get an answer”

Lucia Adarve’s journey to a diagnosis was a long and arduous one. From a young age, she experienced a myriad of symptoms that left doctors puzzled and her family searching for answers. Despite multiple diagnoses, including epilepsy, lupus, fibromyalgia, ADHD, and dyslexia, none fully explained her complex set of symptoms.

Her mother, Lisa, refused to give up on finding the root cause of Lucia’s health issues. After years of frustration and dead ends, they finally found hope in Dr. Todd Arthur at Cincinnati Children’s Hospital Medical Center. Dr. Arthur took a keen interest in Lucia’s case and referred them to the Cleveland Clinic’s Undiagnosed Disease Clinic.

It was at the clinic that Lucia underwent genetic testing and received a life-changing diagnosis. A mutation on her PPP2R5D gene revealed that she had Jordan syndrome, an incredibly rare neurodevelopmental disorder with less than 500 confirmed cases worldwide. The diagnosis shed light on Lucia’s symptoms and provided her family with the validation they had been seeking for so long.

With a diagnosis in hand, Lucia and her family were able to create a clear plan for moving forward. Medications helped control her seizures, and a multidisciplinary team from the Cleveland Clinic developed a management plan for her other symptoms. Additionally, Lucia connected with advocacy groups and support networks for Jordan syndrome patients, giving her a sense of community and understanding.

Despite the initial mixed emotions surrounding her diagnosis, Lucia has embraced her newfound clarity and is working towards a degree in criminal behavioral psychology. With her mother by her side, she is advocating for herself and helping others navigate their own health journeys.

Lucia’s story is a testament to the power of perseverance and the importance of listening to patients. Through the dedication of her family and the expertise of her medical team, Lucia has found a sense of empowerment and purpose in her journey with Jordan syndrome.