By Meredith Cohn, The Baltimore Sun
3:44 PM EDT, May 6, 2012
When Tamika Morgan developed red irritated eyes in the fall of 2010, she wasted no time heading to an optometrist at a local retail store who gave her drops for pink eye.
Her eyes got worse over the next few days so she went to a local hospital to see an ophthalmologist, but a specialist wasn't available. A weekend passed and she landed in the office of a retina expert at another hospital, and by then she couldn't read the big E on the vision chart.
She was legally blind.
Dr. Lisa Schocket, the retina specialist at MedStar Union Memorial Hospital's Eye Center, suspected Vogt-Koyanagi-Harada syndrome, a rare disease that can turn a patient's hair and skin white in addition to hampering hearing and sight. She'd only seen it one other time.
"She admitted me to the hospital and started me on heavy doses of IV steroids, and it was a week later when she told me I had this rare eye disease," said Morgan, a 24-year-old from Northwood in North Baltimore. "I think about it all the time. What if I hadn't gone to another doctor when I realized I was misdiagnosed?"
She'd likely be permanently blind rather than in her longest stretch without eye symptoms, her doctor said. And the poor outcome would have put her in the company of many others with rare diseases. Delays in diagnosis and treatment are not uncommon because not everyone recognizes the maladies and many have no therapies, doctors and advocates say.
An estimated 30 million Americans have one of the 7,000 or so diseases federal health officials consider rare because they affect fewer than 200,000 at any time. For a third of these patients, it takes five years or longer to get a diagnosis, according to the National Organization of Rare Disorders.
It's not known how many people have Harada syndrome. But Schocket said it's likely many eye doctors have never seen it.
The condition is believed to be an autoimmune disease resulting from inflamed melanocytes, the cells that produce the pigment melanin, which colors skin, hair and eyes. It's most typically found in Asians, Hispanics and Native Americans. Schocket doesn't know why Morgan, an African-American, developed the disease.
Schocket did know Morgan's retinas had detached and there was a large buildup of fluid on her eyes. When there is enough fluid, the retinas can fold and stick together, scar the eyes and become much harder or impossible to treat.
"I don't think Tamika had too long, maybe another week at the most," Schocket said. "It was a good thing Tamika knew to get herself help."
The treatment involves high doses of intravenous corticosteroids and often immunosuppressants, which can have side effects such as liver damage, infections or other disorders such as diabetes. But several times when Schocket tapered the doses, Morgan would have a recurrence of inflammation. That meant more drugs, including one normally reserved for cancer and other serious maladies because it can cause organ damage.
A year and a half later, the diabetes Morgan temporarily developed is gone, along with the insulin shots three times a day. She stopped the steroids a few months ago but still needs infusions of an arthritis drug every eight weeks. She'll need monitoring for years, but her vision has returned to normal with contact lenses. She can again drive, work and go to school.
Others with the disease don't respond so well to treatment and develop chronic conditions, said Dr. Jennifer E. Thorne, director of the Division of Ocular Immunology in Johns Hopkins Wilmer Eye Institute. The center sees two or three cases a year, probably the most in the region.
That means years and years of corticosteroids, possibly in combination with immunosuppressants. At best, it's usually months of treatment to control inflammation and allow fluid to be reabsorbed so the retinas lay flat as they're supposed to.
Harada is a form of uveitis, or inflammation inside the eye. There are about 30 different types of uveitis, and, while none are common, together they are fifth or sixth leading cause of blindness in developed countries, Thorne said.
Such conditions can be missed by some practitioners because there is no definite test, said Thorne, also an associate professor of ophthalmology and epidemiology at Hopkins.
Studies are under way to find the best method of treatment, but mainly they focus on the timing of existing drugs. For example, Thorne said, one study looks at whether taking cortiosteroids and immunosuppressants at the same time early on will reduce the likelihood of recurrence of the inflammation.
"With Harada's syndrome, the symptoms someone might experience may be non-specific – blurring of vision or seeing floaters or flashing lights," Thorne said. "Often these patients need a referral to a retina or uveitis specialist for a diagnosis and care. Prompt referral to these specialists is essential to achieving a good visual outcome."
But good outcomes aren't always possible for those with rare diseases, said Mary Dunkle, a spokeswoman for the National Organization of Rare Disorders.
The group collects information on these rarities, as well which researchers are studying them, and officials share the information with those just diagnosed or those investigating what might be wrong. Often, patients have to travel to academic centers hundreds of miles away for an expert.
"A big problem is that after they finally get a diagnosis, a lot of rare diseases don't have treatments and no one is doing research," Dunkle said. "Fewer than 300 of the diseases considered rare have treatments. A lot of people are treated 'off label,' or with drugs not approved by the FDA for their disease. They can encounter insurance problems."
But Dunkle said there has been an uptick in research in recent years, and a third of new drugs approved by the U.S. Food and Drug Administration last year were aimed at rare diseases. Many researchers are now focusing on the basic science behind these disorders, possibly leading to new treatments.
More stories like Morgan's are Dunkle's aim.
"An answer in a week is wonderful," Dunkle said of Morgan's diagnosis. "And so is having a treatment, even if it's not ideal."
Morgan missed three months at her federal government job but, with relatives' aid, continued to make top grades and expects to earn her master's degree from the University of Baltimore this month on time. She plans on going back for a law degree.
"The hardest part was losing my independence," said Morgan, whose mother, Michelle Morgan, had to leave her job to take her daughter to weekly doctors' appointments, administer sometimes hourly drugs and help her with daily activities, including dressing and cooking.
Morgan's mother said the experience has her mindful of always getting prompt medical care. But mostly, she said, she's thankful for the doctors, who tended to her daughter even on Thanksgiving, and for Tamika's renewed health.
"For a while, it was like having a small child again," she said. "She couldn't even match her socks. Once we left her for a little while and she almost burned down my kitchen. … The doctors in the center call her a miracle and she is."
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