Finding Clarity: Lucia's Journey with Jordan Syndrome
Lucia Adarve faced numerous health challenges from a young age, leading to a complex array of symptoms and diagnoses. Her mother, Lisa, was determined to find the underlying cause of Lucia's health issues, which included epilepsy, lupus, fibromyalgia, ADHD, and dyslexia. Despite the challenges, Lisa took a proactive approach to homeschooling Lucia and implementing creative solutions to support her development and well-being.
Lucia's health struggles impacted her daily life, causing fainting spells, concussions, and injuries. She became disillusioned with traditional medical treatments and found solace in her service dog. In 2025, a visit to Dr. Todd Arthur at Cincinnati Children's Hospital Medical Center marked a turning point in Lucia's journey to a diagnosis. Dr. Arthur's thorough investigation and referrals eventually led Lucia to the Cleveland Clinic's Undiagnosed Disease Clinic.
After undergoing genetic testing at the clinic, Lucia received a diagnosis of PPP2R5D-associated neurodevelopmental disorder, also known as Jordan syndrome. This ultra-rare condition affects neurological development and can manifest in various physical and cognitive challenges. The diagnosis provided clarity for Lucia and her family, offering a path forward for managing her symptoms and accessing specialized care.
With the support of a multidisciplinary team at the Cleveland Clinic, Lucia's treatment plan has been tailored to address her specific needs. Medications have helped control her seizures, and ongoing research and clinical trials offer hope for potential therapies targeting Jordan syndrome. Lucia has also found a sense of community and advocacy through connecting with others affected by the condition, contributing to ongoing efforts to advance research and support for individuals with Jordan syndrome.
While the journey to a diagnosis was long and challenging, Lucia and her family now have a clearer understanding of her condition and a roadmap for her future care. The diagnosis has not only provided answers but has also sparked a renewed sense of optimism and resilience in Lucia as she navigates life with Jordan syndrome.