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Doctor's diagnosis drew laughs, but it saved woman's life
A few days later, after it was clear alcohol wasn't Donna's problem - the seizures and psychosis had lasted too long - she was transferred to a larger hospital affiliated with the University of Rochester. Johnson was one of the doctors who crowded into her room that first day. "I remember he was the quiet guy in the back of the room," Dan said.
By then Donna was so violent that she would pull out her IVs, scratch herself uncontrollably and thrash wildly, insisting that people were trying to kill her. Massive doses of antipsychotic drugs had little effect; she required a round-the-clock nurse and virtually stopped eating.
At home Dan had his hands full: The couple's young daughter cried for her mother every night, and the boys, though stoic, were clearly scared. "I was terrified," Dan recalled. "I had this vision of my entire life unraveling in front of me."
Three days after her transfer, the news grew more ominous: An EEG showed that Donna's brain was being ravaged by continuous seizures, a condition known as nonconvulsive status epilepticus. Unless doctors controlled the seizures, she would die.
Running out of time
Because of her age and sex, and the fact that the usual causes of her symptoms - meningitis, HIV, substance abuse and several forms of encephalitis - had been ruled out, Johnson early on thought she might be suffering from an extremely rare, newly identified illness he had heard about two years earlier, while interviewing for a residency at the University of Pennsylvania.
Josep Dalmau, a neuro-oncologist at Penn, and his colleagues had published studies describing anti-NMDA receptor encephalitis, a rare reaction seen in young women to a common ovarian tumor called a teratoma, which is typically harmless. In some patients, antibodies produced to fight the tumor, which contains nerve cells, also attack nerve cells in the area of the brain that can trigger seizures. Removing the tumor stops the seizures and can lead to a full recovery, particularly if treatment is initiated within three months of the development of symptoms. Fewer than 200 cases of the illness have been reported worldwide, none with seizures as severe as Donna's.
When Johnson, then 28 years old, proposed the diagnosis shortly after Donna's arrival, "there was some incredulity" among senior physicians, he said. That faded as doctors pursued, then discarded, other diagnoses.
"They were willing to let me order the tests I thought were needed," Johnson said of his skeptical supervisors. In late December, a sample of Donna's spinal fluid was sent to the Mayo Clinic, home of one of the world's preeminent pathology labs.
In the meantime, doctors tried various drugs, which failed to improve her condition. In late January, after she had been transferred to the intensive care unit at Strong hospital, her results came back. Tests for 100 viruses and other seizure triggers were negative, but doctors had found one unknown antibody. The only way to determine whether it was related to the newly identified illness was to send it to Dalmau, who had developed a test for it. Within days, the results from Penn were in: The sample matched.
Meanwhile, doctors had begun searching for a tumor that might be responsible for generating the antibodies. But several scans, including an MRI, revealed only an apparently harmless cyst on Donna's left ovary.
"They thought for sure they were going to find a tumor," Dan recalled. "I said, 'Just take her ovaries,' but it's not that simple. I kept telling myself that I needed to be as patient as possible for Donna's sake, the kids' sake and her parents' sake. There was just a lot of waiting to see if various treatments worked - and none of them did."
Doctors tried to suppress her immune system using a series of drugs, but those had no effect. Some specialists agreed with Dan, figuring there was nothing to lose by removing the ovaries of a gravely ill woman who had completed her family. But the gynecologic surgeons balked, questioning the ethics of removing apparently healthy organs without evidence of disease. It took several weeks of convincing, including consultations with Penn gynecologists, and a ruling by the hospital's ethics committee before surgeons agreed to operate.