At the age of 18, Lucia Adarve had already seen more doctors than many people do in their lifetime. Her journey was complicated from the start. Lucia missed important developmental milestones, suffered from seizures, and faced difficulties with communication and academic work. Bright lights and loud noises were overwhelming for her. Her mother, Lisa Adarve, worked tirelessly to understand her condition. However, despite a list of diagnoses that included epilepsy, lupus, fibromyalgia, ADHD, and dyslexia, none fully captured Lucia’s symptoms. Remedies seemed ineffective.
Lisa expressed her frustration, saying, Her stack of medical records was getting bigger and bigger,
and wondered, There’s no way this one child has all of these labels and issues. There has to be something underlying.
Lucia’s condition greatly impacted her early years. After struggling in multiple schools, Lisa, who was a former Montessori teacher, took on homeschooling Lucia when she was in third grade. She used creative methods to aid Lucia’s development, such as teaching her to knit to improve motor skills and encouraging horseback riding to enhance balance.
The family also adapted their lifestyle to accommodate Lucia’s needs. For instance, when Lucia’s siblings wanted to play in the wooded area around their home, Lisa set up a ladder for them to use, ensuring Lucia could join. Despite these efforts, Lucia faced challenges, including fainting that caused concussions, occasional anemia, and a reluctance toward medical visits.
Lucia herself stated, No one listened to me. I didn’t see doctors as a good thing. I saw them as something I went to occasionally that didn’t do anything.
Her bond with her service dog became a source of comfort.
In 2025, a pivotal moment came when Lisa and Lucia visited Dr. Todd Arthur at Cincinnati Children’s Hospital Medical Center. Dr. Arthur listened intently as they shared Lucia’s extensive medical history. He offered numerous referrals, including one to the Cleveland Clinic’s Undiagnosed Disease Clinic. The clinic’s founder, Dr. Adnan Alsadah, aims to assist patients who spend years seeking diagnoses. It leverages advanced technologies like whole genome sequencing to uncover conditions.
Lucia underwent a comprehensive screening at the Cleveland Clinic, and her genetic sample was analyzed. Four weeks later, they received the diagnosis: a mutation on Lucia’s PPP2R5D gene indicated PPP2R5D-associated neurodevelopmental disorder, or Jordan syndrome. This condition is extremely rare, with less than 500 cases worldwide.
Jordan syndrome affects development and may hinder movement, speech, and learning. It can be linked to seizures, autism, and ADHD. As patients age, they might develop movement issues akin to Parkinson’s disease.
Lisa expressed relief upon receiving the diagnosis, saying, It finally felt like, wow, these things were real. I wasn’t being overprotective. I knew something was different.
Lucia experienced mixed feelings, initially joyful, later frustrated by the lengthy journey to answers.
Dr. Alsadah emphasized the benefits of having a diagnosis: medications have alleviated Lucia’s seizures, and the Cleveland Clinic team devised a comprehensive management plan for her symptoms. Lucia joined advocacy groups and support networks, and participates in a clinical trial exploring a medication for related conditions.
Lisa noted that Lucia began to resemble her joyful, younger self, stating, She knows what she has, so she can kind of stand up and advocate for herself.
Lucia is striving for independence and is pursuing a degree in criminal behavioral psychology, attributing her progress to her mother’s devotion.
Lucia shared, I was extremely lucky to get my mom. She’s one of the best people I know. She worries way too much, and she is the best person to have during this.
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