Ethan is Doing Well Thanks to Personalized Treatment Plan After Doctors Pin Down Difficult Neurosarcoidosis Diagnosis

It didn’t take long for Ethan’s parents to notice that something was wrong. 

Competing in the 200-yard individual medley during the Southwest Ohio District Division I boys swimming championships in February 2021, Ethan just wasn’t himself.

“My husband and I commented to each other that it looked like he never swam before,” said Amanda, Ethan’s mother. “He wasn’t swimming at his normal speed, which previously was on pace for state competition.”

After giving him time to talk to his coach, Amanda and her husband, Christopher, made their way poolside to check on their then-14-year-old son.

“He said his head was just killing him,” Amanda recalled.

This was the first of more troubling signs to come. In addition to debilitating migraines, Ethan began experiencing arm spasms that made it look like he was having a seizure. The pain not only affected his swimming, but it also made academic work difficult.

“The migraines impacted me pretty heavily,” Ethan recalled. “They would be so debilitating that I couldn't think, and then I couldn't read and comprehend. So, it became almost impossible to do anything at school.”

No Simple Answers Following Neurosarcoidosis Diagnosis

Ethan had a history of migraines that began when he was a preschooler, but the severe headaches had been under control for many years. Even so, his parents were concerned after his experience at the district competition and checked in via telehealth with neurologist Charu Venkatesan, MD, PhD, his provider for many years. Though Dr. Venkatesan suspected Ethan’s recent migraines were caused by something as simple as mild weather fluctuations, she ordered an MRI to see if anything more serious was going on.

The MRI results showed areas of inflammation in Ethan’s brain. Dr. Venkatesan ordered more testing, including a spinal tap. Ethan’s medical team, which includes ophthalmology and pulmonary specialists, prescribed oral steroids to alleviate the inflammation in his body. 

It wasn’t until about a year ago that Ethan was diagnosed with neurosarcoidosis, a chronic inflammatory condition of the central nervous system (brain, spinal cord and nerves). The disorder leads to the formation of granulomas—microscopic clusters of inflammatory cells—in various tissues and organs in the body, including the eyes and lungs.

“It was a long journey even to pin down Ethan’s diagnosis," said rheumatology specialist Ekemini Ogbu, MD, MSc, who now directs Ethan’s care. “We suspect the migraine episodes he had when he was younger were an early occurrence of the disease, but then it went quiet for a while. Neurosarcoidosis waxes and wanes that way, so it's often a difficult diagnosis to make. We had to rule out several possible diagnoses in his case.”

Managing Ethan's Immune Suppression

Ethan receives coordinated care from a multidisciplinary team at Cincinnati Children’s Multiple Sclerosis and Neuroimmunology Center. While Dr. Ogbu directs his care, she works closely with many other specialists to develop an ongoing personalized treatment plan for Ethan.

“Our center is well versed in taking care of and managing immune suppression in pediatric patients,” Dr. Ogbu said. “Our specialists are leaders in the field of neuroimmunology—at the forefront of research and innovative care—so we’re ahead of the game in what we understand to be the most recent science for these diseases. Our families benefit because all of these experts come together to get the best possible outcome for our patients.”

Dr. Ogbu said Ethan has made outstanding progress. Though neurosarcoidosis is an incurable disorder, Ethan’s symptoms are under control with medications to suppress his immune system: a weekly injection of methotrexate and a monthly infusion of Remicade, which includes a small dose of steroids. 

He likely will continue with long-term immune suppression medications, but he should be able to lead a healthy, active life.

“Neurosarcoidosis can be controlled and managed appropriately throughout one’s life,” Dr. Ogbu said.

Still Swimming and Looking Ahead

Now a freshman at Lindsey Wilson College, Ethan is studying psychophysiology and preparing for a career in medicine. He also competes on the college’s swim team.

“My arm spasms have gone away, so I’m able to swim every day without a problem,” Ethan said. “I still get migraines pretty frequently, but they aren’t debilitating like they used to be, so I’m still able to do things.”

Amanda is pleased with the care her son has received at Cincinnati Children’s.

“Ethan is feeling better these days, so I think we’re on the right path—fingers crossed,” she said. “The care at Cincinnati Children’s has been great. Everybody there has been very accommodating and very open in answering our questions and offering explanations.”

For other families going through similar experiences, Amanda offered one word of advice: Patience.

“When there's something wrong with your child, patience is typically the first thing that you don't have because you want answers and you want them now,” Amanda added. “You want to know why your child went from being OK one day to not being OK the next. I’m grateful that I’ve experienced open communication with Ethan’s physicians at Cincinnati Children’s, and they’ve listened to my concerns. Patience is key to understanding what’s going on with your child and getting to the right treatment plan.”

(Published January 2024)