Although brain scans revealed lesions consistent with CNS lupus, O’Leary did not have such classic signs of the disease as high fevers and seizures. No one knew what to make of her collapses or extreme fatigue, and doctors were baffled by her failure to get better.
The search for an answer then turned to psychological causes: Perhaps her condition was exacerbated by a psychological problem, doctors suggested.
O’Leary said she saw a psychiatrist on and off for several years but that he never found a psychological explanation for her symptoms.
Being ill had altered her life: O’Leary’s marriage ended, her plans to teach philosophy at the college level were in tatters and she struggled as a single mother with limited resources. In the late 1990s, O’Leary turned to writing poems, which she had done since high school, in part because “it was something I could do from bed.” After she won grants from two literary foundations, she began to focus intensively on her poetry. In 2003, she won a fellowship to the prestigious MacDowell Colony in New Hampshire.
Around that time, concerned about O’Leary’s repeated, hard-to-treat bronchial infections, doctors decided to wean her off the prednisone, because the drug impedes healing and didn’t seem to be helping. To everyone’s surprise, she said, “I got out of bed, began to cook meals and care for my son without assistance, and regained my ability to read complex material.” The unexplained collapses and weakness did not disappear.
O’Leary turned to the Internet in earnest and began reading articles on PubMed, a medical database operated by the National Institutes of Health. One night, she said, she stumbled upon a rare, progresssive disorder called Sneddon’s syndrome.
Named for the physician who first described a cluster of cases in 1965, Sneddon’s affects the blood vessels, causing neurological abnormalities including small strokes. It is sometimes seen in patients who have systemic lupus erythe
Brain scans of people with Sneddon’s show reduced blood flow to the brain, and some of them experience memory and cognitive problems, according to the National Organization for Rare Disorders. Many Sneddon’s patients also have a skin condition called livedo reticularis, a mottled purplish discoloration of veins that resembles a fishnet and worsens in the cold; it usually affects the arms and legs. (The rash is also often seen in healthy people, who need no treatment for it.) O’Leary had noticed the mottling on her legs since she was a teenager.
“I knew I’d found my diagnosis,” she recalled.
Convincing doctors was more difficult. Most had never heard of Sneddon’s, which primarily develops in young women and affects about four in every million people. Its cause is unknown, but its hallmark symptoms are cerebrovascular disease and livedo reticularis.
In 2006, O’Leary found a rheumatologist in Manhattan who determined she had Sneddon’s and systemic, but not CNS, lupus. A few months later, she began seeing another rheumatologist, Andras Perl, a lupus specialist at SUNY Upstate Medical University in Syracuse. He prescribed Coumadin, a blood thinner often used to reduce the risk of stroke.
“It had to be done very carefully,” said Perl, because of the risks that blood thinners pose. The Coumadin dramatically improved O’Leary’s ability to function and reduced her neurological symptoms, many of which signified mini-strokes.
Little is known about Sneddon’s, Perl said, in part because rare disorders are extremely difficult to study — there simply aren’t enough patients from whom to draw conclusions.
In 2007, O’Leary’s sister, who had been sick since 1990 with problems that eluded diagnosis, was found to have Sneddon’s, too. She also experienced marked improvement after taking a blood thinner. In 2008, the sisters founded the U.S. Sneddon’s Foundation, an online resource for patients. In 2010, Perl co-authored a report about their cases in the Annals of the Rheumatic Diseases.
In addition to a daily blood thinner and other medications, O’Leary takes Revatio, which is essentially Viagra prescribed at smaller doses and for a different purpose than erectile dysfunction. In O’Leary’s case, it appears to dilate blood vessels in the brain and improve her mental functioning.
While there is no cure for Sneddon’s, O’Leary, now 50, said that having an accurate diagnosis and effective treatment has helped her regain her equilibrium, although she must contend with occasional hospitalizations. She works, travels occasionally and has a much greater sense of control.
“I have to live with it, and I can’t stop it,” she said of her condition. “But the beauty is I’ve got my life back. I’m up and I’m functioning.”
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