The loneliest fight: For people with rare diseases, life is filled with extra challenges
Awareness is rising for rare diseases, and the Internet has made advocacy easier. (Fotolia.com / January 23, 2013)
Rossano has a rare genetic condition in which her muscles can turn to bone while she sleeps.
"Nighttime is my enemy," she says. Although she was diagnosed at age 5 with fibrodysplasia ossificans progressiva, the disease didn't become aggressive until Rossano was in middle school--the worst possible time to be different from your peers.
"In 90 days, I lost all my independence," the 23-year-old recalls of her painful launch into puberty. When she arrived for eighth grade in a wheelchair, her friends dropped her, their parents stopped socializing with her parents, and officials at her parochial school grumbled about needing to make the school handicapped-accessible. Rossano became severely depressed."
Any serious illness or even temporary disability can make one feel isolated and manhandled by fate, but for people with rare diseases--defined as ones afflicting 200,000 people or fewer in the U.S.--there are often additional challenges. For the most part, these patients go from doctor to doctor seeking a diagnosis.
When or if they get one, there's often no treatment and no physician knowledgeable about their rare disease. The impact is like being rocketed off to a distant planet. Usually they've never heard of their condition until they are diagnosed. And usually they're young; many of these often-fatal diseases are genetic.
There are around 7,000 rare illnesses, and some 50 new ones are recorded every year, thanks to better identification of disease subsets, such as newly defined lymphomas or leukemias. Most cancers, in fact, are rare disorders. And even though the constituency for each illness is small, together they affect up to 8 percent of the population--more than 25 million Americans, the same number as those struggling with diabetes. This high number may be due in part to awareness, with more patients and families willing to discuss rare diseases in the media. Also, the Internet has made advocacy much easier.
As most physicians aren't familiar with these diseases, seeking a diagnosis can be terribly frustrating. The challenge for a doctor to be able to recognize every rare disease is made even more difficult because symptoms may appear only gradually or one at a time. Fifteen percent of people who suffer from rare illnesses report that it took them more than five years to get a diagnosis. And even then, patients often find that there are few treatments and even fewer knowledgeable professionals.
Inadequate resources mean such illnesses are cast aside as "orphans." Because of the small number of individuals afflicted, "it's difficult to make the case for funding," says Glenn Gaulton, chief science officer at the University of Pennsylvania's Perelman School of Medicine. But since funding could mean finding a cure, more and more patients and their families are becoming their own advocates.
Here, in addition to Rossano's story, are the journeys of three other individuals similarly affected by rare conditions. They not only cope with the daily challenges of their illness but also manage to flourish, even as they fight for an as-yet- unknown cure:
1. MATTHEW HALLINGER
For Eva Oseland, every day is an almost perfect replica of the one before, but she doesn't balk at the rigors of her schedule. It helps keep her 10-year-old grandson, Matthew, healthy and out of the hospital. Matthew was diagnosed in utero with a urea cycle disorder caused by an enzyme deficiency leading to a toxic buildup of ammonia in the blood.
Sadly, Oseland was already seasoned at managing this disease, which is caused by a rare hereditary mutation. Her own son, Tyler, had been born with the same condition. After he began vomiting and had trouble breathing, he was flown to the Loma Linda University Medical Center in southern California. There, a doctor acted on a hunch and tested Tyler's blood for ammonia.
"His blood ammonia level was 1,600," Oseland recalls. "Normal can be as low as zero."
Tyler survived the crisis, but was given a 20 percent chance of living a month. There was no real treatment for the disorder and only a few experts worldwide. In fact, there was no record of any babies with the condition surviving to their first birthday.
Oseland enrolled Tyler in a clinical trial; data from that trial led to the most commonly used treatment to date. With her sister, she tracked every detail of Tyler's life. They recorded, for example, how many times he urinated during the day and how many times he refused to eat.
"The doctor thought we were silly at first," she says, but in the end the discipline informed Oseland and her sister.
They noted that Tyler's ammonia levels rose with each new tooth. To manage the stress of teething, his body would break down its own protein muscle mass for energy. Oseland found that giving him extra calories during times of stress could stave off ammonia buildup and a trip to the hospital.
Remarkably, Tyler lived to the age of 7, though his short life was punctuated with some 300 visits to the hospital. Just months after he died, Oseland's daughter gave birth to Matthew, who had the same condition. Since Oseland knew how to manage the disease--and because survival depends on a careful routine that avoids germs and balances stress with calories--her daughter agreed that Oseland should raise him.