Lucia Adarve’s medical journey began early in life, having visited more doctors by the age of 18 than many do in their entire lives. Her struggles started at birth, missing developmental milestones and experiencing seizures that led to injuries. Communication and school posed significant challenges. Lucia’s sensitivity to stimuli like loud noises and bright lights made daily life difficult.
Her mother, Lisa, remained determined to uncover the cause of Lucia’s struggles. Over time, Lucia was given numerous diagnoses, including epilepsy, lupus, fibromyalgia, ADHD, and dyslexia. However, these labels failed to fully explain her symptoms, and treatments offered no relief.
“Her stack of medical records was getting bigger and bigger,” said Lisa. “There has to be something underlying.”
Faced with these challenges, Lisa began homeschooling Lucia in third grade. As a former Montessori teacher, Lisa incorporated unique solutions like knitting to improve fine motor skills and horseback riding to aid in balance. Despite the family’s support, Lucia’s health issues continued, leading to fainting spells, concussions, and anemia. Older family activities still accommodated Lucia’s condition.
Years of medical appointments led Lucia to become pessimistic about seeing doctors, often preferring the company of her service dog. “I didn’t see doctors as a good thing,” Lucia reflected. “I told my mom that my dog did more for me than any of the doctors I spent time going to.”
Finding Answers
In 2025, Lucia and her mother met Dr. Todd Arthur at Cincinnati Children’s Hospital Medical Center. He took the time to listen and research Lucia’s extensive medical background, ultimately connecting them with the Cleveland Clinic’s Undiagnosed Disease Clinic. Dr. Adnan Alsadah, leading the clinic, explained that many patients face lengthy journeys before receiving a diagnosis. The clinic uses technologies like whole genome sequencing to aid in diagnosis.
Following a day of tests and a genetic sample analysis, results pointed to a rare condition. Lucia had a mutation on her PPP2R5D gene, identifying as Jordan syndrome, with less than 500 known cases worldwide.
“I knew something was different,” Lisa said, relieved but also reflecting on how long it took for answers. Lucia felt mixed emotions, initially happy, but later frustrated by the lengthy process.
Planning for the Future
With a diagnosis, a clear pathway opened. Treatment plans helped reduce seizures, and a management strategy addressed other symptoms. Lucia engaged with advocacy and support groups, and she is part of a clinical trial exploring treatment possibilities for Jordan syndrome.
Lisa observed a positive change in Lucia, noting, “She knows what she has, so she can advocate for herself.” Lucia regains her bubbly nature and forms meaningful connections.
Now, Lucia is working toward a degree in criminal behavioral psychology. As one of the few Jordan syndrome patients capable of relative independence, she credits her mother for her support, stating, “I was extremely lucky to get my mom … she’s the best person to have during this.”