It took 18 years to get an answer

When she was 18, Lucia Adarve had been to more doctors than most people see in their entire lives. Things have been complicated for him since he was born: He missed milestones, had seizures that led to blackouts and concussions, and had difficulty with communication and schoolwork. He had difficulty balancing and responded poorly to stimuli such as loud noises or bright lights.

His mother, Lisa, was determined to find out what was wrong. Over the years, Lucia has accumulated a long list of diagnoses, including: epilepsy, lupusfibromyalgia, ADHD and dyslexia. But there was no label that fully fit his symptoms, and no therapy or treatment seemed to work.

“The pile of medical records was getting bigger and bigger,” Lisa said. “I thought, ‘There’s no way this one child has all these labels and problems. There must be something underlying this.'”

“Nobody listened to me”

Lucia’s condition disrupted her life from an early age. Lisa, a former Montessori teacher, began homeschooling him in third grade after he failed at multiple schools. In addition to teaching Lucia a standard curriculum, she found unorthodox solutions to improve her fine motor skills, such as teaching her to knit and taking her to school. riding To improve your balance.

Efforts have spread beyond the classroom. Lucia’s siblings loved climbing the backyard wall to play in the woods around their home. Lisa propped up a ladder that Lucia could climb and made sure the other children could use it too.

Despite the support of her family, circumstances took a toll on Lucia. He sometimes suffered from fainting spells that led to concussions and injuries, and sometimes he suffered from anemia. He became moody about appointments and recommended therapies, and although he loved his family, he was likely spending time with his service dog.

“Nobody listened to me. I didn’t see doctors as a good thing. I saw them as something I went to occasionally and was of no use,” Lucia said. “I told my mom my dog ​​had done more for me than any doctor I’d ever seen.”

Identifying a rare condition

In 2025, Lisa and Lucia meet Dr. Todd visits Arthur. The neurologist “spent a lot of time listening,” Lisa recalled. Lisa said she began to investigate as the mother and daughter described “pages and pages of labels and random diagnoses.”

“I’ve never seen a doctor show this much interest,” Lucia said. Lucia said Arthur offered “lots of advice”; one to the Cleveland Clinic’s Clinic for Undiagnosed Diseases. The founder and director of the clinic, Dr. Adnan Alsadah, MD, said the office aims to help “the many patients in the United States and around the world who spend many years trying to reach a diagnosis and going from specialist to specialist, hospital to hospital.”

“On average, it’s more than 10 years until diagnosis” for patients with ultra-rare conditions, Alsadah said. The clinic aims to “solve this diagnostic challenge using cutting-edge technologies,” including whole genome sequencing, which allows doctors to examine a person’s entire DNA sequence.

Lucia and Lisa spent a day at the clinic doing a screening survey. Lucia then provided a genetic sample, which was sent to a private laboratory to be analyzed for genetic variants. Four weeks later, the Adarves got a call: A diagnosis had been made at the clinic.

“I knew something was different”

The testing found a mutation in Lucia’s PPP2R5D gene; This meant that Lucia had an incredibly rare condition called PPP2R5D-associated neurodevelopmental disorder, better known as Jordan syndrome. Alsadah said there are fewer than 500 confirmed cases of the condition worldwide.

Jordan syndrome is a neurodevelopmental disorder. Pediatric medical geneticist and researcher Dr. People with Jordan syndrome may have a large head or identifiable facial features, Wendy Chung said. This condition affects children’s development and can cause difficulties with movement, speaking, reading or writing. Some children, like Lucia, need modified education. Others never learned the skill, Chung said. The disorder may also be associated with seizures, autism, and ADHD. As patients get older, they may experience problems similar to parkinsonism, or movement problems caused by Parkinson’s disease, Chung said.

Lisa said she was happy to get the diagnosis.

“It finally felt like these things were real. I wasn’t being overprotective. I knew something was different,” he said.

Lucia received the news with more mixed feelings.

“I was really happy with it for a month or two,” he said. “Then I started to get a little angry because I was frustrated that it took 18 years to get a response.”

“A clear plan to move forward.”

Getting a diagnosis helps create “a clear plan to move forward,” Alsadah said. Medications reduced Lucia’s seizures, and a multidisciplinary team from Cleveland Clinic created a management plan for her other symptoms.

Lucia also connected with advocacy groups that promote research into Jordan syndrome and potential treatments for it, as well as support groups with members who could relate to her experiences. He is also part of a clinical trial working to determine whether a drug used to treat a different neurodevelopmental condition could help patients with Jordan syndrome.

Lisa said her daughter is also starting to look more like her cheerful, childhood self.

“He knows what he has, so he can stand up and defend himself,” Lisa said. “He’s getting back to his old self. He’s helping others, making friends.”

Lucia said she was mostly relieved to stop spending so much time on doctors. He is working towards a degree in criminal behavioral psychology. He is one of only a handful of Jordan syndrome patients who can move relatively independently, and he attributes this to his mother’s efforts.

“I was extremely lucky to find my mother,” Lucia said. “He’s one of the nicest people I know. He worries a lot, and he’s the best person to have during this time.”