Carnegie Mellon University tennis student-athlete Marina Selenica thought little of it when her brother Joseph had strep throat when he was in the third grade. Little did she know what that moment would mean for the next seven years of his life and her future aspirations.
"He was such a normal kid," she recalled. "We would hang out like any brother and sister. He would always have friends over and have sleepovers. He was on swimming, basketball, and soccer teams. But then one day we noticed Joseph was just a little different."
Weeks passed and his behavior and ability to focus started deteriorating rapidly. Over the next year, his parents took him to one kind of doctor after another. Things got terrifyingly worse when a doctor prescribed Seroquel (quetiapine fumarate) for paranoia that amplified his symptoms and as his sister described, "made him 100 times worse." The same day he started the medication, she and her parents rushed him to the hospital where doctors wanted to increase the already devastating prescription by four times. "My parents refused the advice, which probably would have left my brother severely mentally impaired and/or hospitalized for a long period of time," Selenica remembered.
She was only 12 years old at the time and struggled to comprehend what was happening to her brother. He could not speak and was unable to feed himself. His tics continued to be violent and out of control and the few hours he slept were the only reprieve for the entire family.
Joseph was given multiple diagnoses over the years, including Austism Spectrum Disorder, Attention Deficit Hyperactivity Disorder (ADHD), Obsessive Compulsive Disorder (OCD), Asperger's Syndrome, Tardive Dyskinesia, and finally Tourette Syndrome (TS). After all the years and changing diagnoses, the family was led to believe by his neurologist and other doctors that the final and correct diagnosis was Tourette's... yet it was neither final nor correct.
"After practice one day in early March, I received a phone call from my mom telling me that after seven years, my brother was finally properly diagnosed," Selenica said. "I was so confused because my family and I were finally all at peace with the fact that he had Tourette's. So many thoughts were running through my head and my emotions were so out of whack. I was in tears and was so elated, but I was mostly angry. Angry that after all this suffering, educated doctors had not properly diagnosed my brother and on top of that, he lost nearly seven years of his life."
Selenica credits her mother's persistence for finally leading to the correct diagnosis: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). The disease can be clinically diagnosed after a patient develops a number of behavioral and physical symptoms following a strep throat infection, which mimics symptoms of OCD and/or Tourette's.
Although PANDAS was defined in 1998 by Dr. Sue Swedo, the current definition was modified by researchers who met at the National Institutes of Health in 2010. "For years, my mom would constantly be researching my brother's symptoms, hoping some new information would come up," Selenica said. "One day she came across a research study case on PANDAS and I remember her telling me it was almost as if the patient she was reading about was my brother!"
A month after Selenica came home from college for the summer, doctors put Joseph on a steroid treatment for PANDAS. "I thought I was in the Twilight Zone," she stated. "It was almost as if he woke up and was completely normal. My family and I thought we were dreaming and had to pinch ourselves." That treatment lasts about five days at a time and a more permanent treatment/cure is expected to result from long term therapy with intravenous immunoglobulin (IVIG).
"Ever since I could remember, I always knew what I wanted to do with my life," Selenica said. "That was to help my brother and kids like him to avoid years of unnecessary battles. It's saddening that my brother will never get back the seven years of life he essentially lost from the numerous misdaignoses, but his story has inspired and motivated me to go on to medical school and become the best doctor I can be."
Tenacity runs in the family as Selenica battled back from unexpected surgeries and injuries this season to earn Second Team All-Association honors in singles. "Coaches (Andrew) Girard, (Sarah) Short, and (Mike) Belmonte have always believed in me and tested me far beyond the limits of whatever I thought I could achieve," she added.
Her success on and off the court came as no surprise to Girard. "Marina dealt with a variety of adversity throughout her freshman year, but persevered and found a way to be a key contributor for us," he said. "She is very passionate about tennis and about helping others."