JULIANPORTER

A childhood, then a label

Julian Porter was born on July 9, 1998, at Vanderbilt University Medical Center in Nashville. As a child he was clumsy and accident prone. He was diagnosed with ADHD in the second grade, and at times he seemed to have trouble telling what was real.

In January 2017, while he was a student at Xavier University, Julian had an episode of acute paranoid psychosis with long pauses before he could speak. He was diagnosed with schizophrenia at Vanderbilt. No brain MRI was done. No comprehensive medical workup was done. The label was set, and it would follow him for the rest of his life.

The body in crisis

Over the next several years, Julian's episodes did not look like psychiatry alone. They looked like a body in crisis. He had recurrent states resembling malignant catatonia, with muscle breakdown, sharply elevated CK, an unstable autonomic system, a racing heart, drenching sweats, tremors in both hands, and rigidity.

In July 2019 he became suddenly mute and manic, his mental status altered, sweating, in rhabdomyolysis, his heart racing. He was medically unstable, not simply unwell in mind.

July 2021

After he ran out of his clozapine, Julian was hospitalized again. He became intensely religious, reading his Bible without pause, lit up and activated, then slowing until he went completely silent. His hands moved in a constant undulating tremor his family came to call piano hands.

At Vanderbilt the record documented bilateral hand tremors, cogwheel rigidity, both pupils dilated, rhabdomyolysis, high CK, word salad, and a racing heart. He was given benztropine for parkinsonian symptoms. He believed he was Jesus Christ, a conviction that never lifted with treatment. He was treated with clozapine, a series of ECT, and benzodiazepines.

The genetic thread

In October 2023 the thread that would reframe everything appeared. Julian's father, Brian, tested positive for a pathogenic ATP7B variant, c.3688A>G. ATP7B is the gene at the center of Wilson's disease, a condition in which copper builds up and poisons the brain and liver. The same variant was later found in Julian, and in two psychiatric patients within a Toronto study of more than two thousand psychiatric patients.

The full picture, 2024

By 2024 the rest of the picture had filled in. Julian had liver dysfunction, anemia, a clotting disorder, metabolic acidosis, and an enlarged spleen. He needed earplugs every day for unbearable sound sensitivity. He had sudden bursts of laughter he could not control, tongue thrusting, and repetitive hand movements.

He met the diagnostic criteria for Wilson's disease with a Leipzig score of 5, or 6 counting his anemia. His copper studies were abnormal and his genetic testing confirmed the pathogenic ATP7B variant. And still, his brain MRI was reported as normal.

February 2025

Julian was switched from clozapine to quetiapine over five days. He fell into an acute, violent mania and went mute. In that state he attacked his mother with a kitchen knife and she nearly lost her life. A neighbor shot him. He died in surgery about two hours later, at Vanderbilt, on February 26, 2025. He was twenty six.

What the autopsy showed

His autopsy found hepatosplenomegaly. His liver weighed 1,810 grams. His spleen weighed 320 grams, roughly twice the normal size. The copper in his brain and liver tissue was never measured, though the family had asked for it. No neuropathologist was consulted, though the family had asked for that too.

A second look at the scan

Afterward, his axial T2 brain MRI was reviewed again. Reviewers, including the Wilson's disease specialist Dr Peter Hedera, reported that it was not normal after all, describing abnormal signal involving the tegmentum, a pattern that can appear in Wilson's disease. Some reviewers reported a giant panda sign, the classic Wilson's marking.