With Rare Disorders, Misdiagnosis and Desperation Prevail

SATURDAY, March 20 (HealthDay News) — People diagnosed with cancer have a difficult and scary battle ahead of them, but there’s comfort to be found in the multitude of patient groups, medical associations, research facilities and hospitals dedicated to improving treatment of their disease.

But what if a person suffers from thalassemia, a blood disease that affects hemoglobin? Or cystic fibrosis, a disease that causes mucus to clog the lungs and pancreas? Or jumping Frenchmen of Maine, a disorder that causes an extreme startle reaction to unexpected noises or sights?

These conditions all fall into the category of “orphan diseases” — conditions so rare that they attract little attention and few research dollars. People who have an orphan disease often find themselves misunderstood and misdiagnosed, and with no immediate support available to them.

“We get phone calls from literally desperate people,” said Stefanie Putkowski, a registered nurse and clinical information specialist for the National Organization for Rare Disorders, a nonprofit group dedicated to orphan diseases. “I don’t know if they are hopeless. They are desperate. They can feel very isolated.”

The U.S. Food and Drug Administration categorizes a medical condition as a rare disease if it affects fewer than 200,000 Americans at any given time. There currently are more than 6,000 known rare diseases that affect more than 25 million Americans.

“That’s almost one in 10 Americans,” said Mary Dunkle, vice president of communications for the rare disorders group. “Even though the diseases are rare, when you put them all together, a lot of people are affected.”

People affected by a rare disease all have remarkable tales, their own personal odyssey through a health-care system that cannot figure out what’s wrong with them, Dunkle and Putkowski said.

Putkowski related a conversation she had with a young mother who had spent six years trying to figure out why she was suffering repeated incidents in which she could not catch her breath.

Doctors puzzled over it for years. They prescribed steroids and inhalers, but her symptoms only worsened. Some doctors threw up their hands, said it was all in her head and urged her to see a psychiatrist.

The young woman finally went to one of the nation’s top pulmonary hospitals. After spending 12 days there, doctors figured out that she had Churg-Strauss syndrome, a very severe disease that causes inflammation of the blood vessels. The disease often tricks doctors because it presents as a lung disease when really it’s a vascular condition.

“She was told in another six months she would not have been treatable,” Putkowski said. “She ended up getting a real, true diagnosis. But, by that time, she had lost her job and was living in public housing on public assistance.”

Getting a solid diagnosis is just step one of the ordeal faced by a person with an orphan disease. Because the diseases are so rare, they lack the support groups and national organizations that have formed around more common illnesses. The young woman had called the National Organization for Rare Disorders because she wanted to find out if there were any support groups or treatment grants for Churg-Strauss syndrome, Putkowski said.

Orphan diseases also don’t attract as many research dollars because, by comparison, few people are affected by the diseases. For pharmaceutical companies, there’s less chance for a good return on their investment.

“Very little money goes into these orphan diseases because there’s very little money to be made in the end,” said Pat Girondi, founder of the Orphans Dream Foundation. “The patient base is too low.”

Girondi, a Chicago businessman, founded his nonprofit group to help support research into orphan diseases. His son, Rocco, was diagnosed in 1992 with thalassemia at age 2. Girondi said he spent years taking his son around the world — California, Canada, Italy — looking for treatments for the disease.

Rocco, who is now 19, survives by receiving blood transfusions about twice a month, and his father’s group is funding cutting-edge research into treating thalassemia with stem cells.

His is not an isolated case. Other families of people ill with an orphan disease have also sponsored research into the affliction that’s harming their loved one.

“What we have found … is that one of the main ways these rare disorders get research funding is through the patients themselves,” Putkowski said. “Either the patient or the patient’s family will mobilize themselves. For example, they’ll put donation cans out in local gas stations. We’ve had the most remarkable stories of people who have started just like that and have come a long way in raising research funds.”

Girondi’s foundation and Putkowski’s group both help people find support for their disease and try to direct research funding toward developing treatments and cures for orphan diseases.

Though research into orphan diseases might seem specialized, it holds the potential for paying big dividends toward medical science as a whole. Doctors looking into rare disorders might learn things that would apply to a broader range of people.

Dunkle gave the example of a research team now studying a very rare bone disease. “The more they learn about that disease, it will teach them more about things as simple as fixing a broken arm because they are researching how bone grows,” she said.

More information

The Office of Rare Diseases Research at the U.S. National Institutes of Health has more on orphan diseases.