At just 18, Lucia Adarve had visited more doctors than most ever do. From birth, her life was filled with challenges. She missed developmental milestones, suffered seizures that led to injuries, and found it tough to communicate and learn. Bright lights and loud noises felt overwhelming to her.
Her mother, Lisa, wanted answers. Over the years, Lucia received numerous diagnoses—epilepsy, lupus, fibromyalgia, ADHD, and dyslexia—yet none truly matched her symptoms. Treatments didn’t bring relief, and Lisa worried something deeper was at play. “Her medical records just kept growing,” she said. “There has to be an underlying issue.”
Lucia’s journey has not only been about medical struggles. After struggling in various schools, Lisa decided to homeschool her. Besides academics, she engaged Lucia in activities like knitting and horseback riding to develop fine motor skills and balance. Her siblings played outside, and Lisa adapted the environment so Lucia could join in.
Despite the family’s support, the situation was tough on Lucia. She experienced fainting spells and became discouraged about doctors, feeling her service dog provided more comfort than any physician. “I didn’t see doctors as helpful,” Lucia reflected. “My dog did more for me than they did.”
In 2025, hope arrived during a visit to Dr. Todd Arthur at Cincinnati Children’s Hospital. Unlike past experiences, he listened intently. After reviewing Lucia’s extensive medical history, he referred them to the Cleveland Clinic’s Undiagnosed Disease Clinic. Dr. Adnan Alsadah, the clinic’s director, noted that patients with ultra-rare conditions often wait over 10 years for a diagnosis. He aims to expedite this process using advanced technologies, including genome sequencing.
After going through tests, Lucia was diagnosed with Jordan syndrome, a rare neurodevelopmental disorder caused by a mutation in the PPP2R5D gene. To date, there are fewer than 500 confirmed cases globally. This disorder can affect movement, speech, education, and may even lead to seizures and autism.
Dr. Wendy Chung, a medical geneticist, acknowledged that children with this syndrome often require special learning methods. They may face ongoing challenges as they grow up, possibly developing movement disorders similar to Parkinson’s disease later in life.
Lisa found joy in the diagnosis. “It finally validated my concerns,” she stated. For Lucia, emotions were mixed. While initially happy, she later felt frustrated that it took so long to find answers. She said, “I was annoyed that it took 18 years.”
Now, with a clear diagnosis, Lucia can better manage her condition. New medications have reduced her seizures, and a support team has created a management plan. Lucia connects with advocacy groups focused on research and treatment for Jordan syndrome and is part of a clinical trial exploring new medications.
Lucia is working toward a degree in criminal behavioral psychology and feels empowered to advocate for herself. “She’s getting back to who she was,” Lisa said. Lucia expressed gratitude for her mother’s unwavering support. “I was lucky to have my mom. She’s the best person to have in my corner,” she said.
Overall, Lucia’s journey underscores the importance of persistence and hope in the face of complex health challenges. With advances in medical science and growing awareness of rare conditions, there’s a brighter path ahead for many facing similar struggles.
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