Amazing grace: Paula Shal learns to live with rare disease

Amazing grace: Paula Shal learns to live with rare disease

SHAWN DOHERTY | The Capital Times | sdoherty@madison.com | Posted: Thursday, July 8, 2010 5:15 am | \

Paula Shal has a rare disease most of us have never heard of: cystinosis. Only 500 or 600 people in the U.S. and perhaps 2,000 worldwide are afflicted by the metabolic disorder, which results in damaging accumulations of an amino acid called cystine in muscles, eyes, kidneys and other organs. Symptoms vary, but can include sensitivity to light, short stature and impaired kidney function.

Diagnosed at the age of 17, Shal today is an outgoing 39-year-old who juggles the demands of being a full-time supervisor with American Girl and a volunteer at a nonprofit cystinosis organization with the ups and downs of having a major illness. She makes it her mission to spread the word about what life is like with a rare disease. “There’s no path out there,” she says. “I am a pioneer.”

Cystinosis can be treated but not cured. It is painful. Shal has had four kidney transplants so far. Some days all she can do is curl up in bed at the home she shares in Waunakee with her husband, Jim Shal. It is lonely. She knows of just a few others in Wisconsin who have the illness, mostly children, and is in touch with only a handful of adults around the world still living with it. And it is scary. “I feel like I’m living on borrowed time,” she says.

A disease is classified as rare in the U.S. if fewer than 200,000 people have it. At last count, 7,000 such disorders were registered in a data bank kept by the National Institutes of Health. About 30 million Americans suffer from one of these curious disorders, or nearly one out of every 10 Americans: Rare diseases, Shal points out, are a lot more common than most people realize.

Some sound like they are straight out of Dr. Seuss: cat eye syndrome (a chromosomal disorder that leads to missing tissue in the eye’s iris); Jumping Frenchmen of Maine syndrome (an exaggerated reaction to unexpected noises or sights); blue diaper syndrome (a metabolic disorder leading to bluish urine); prune belly syndrome (symptoms include a lack of abdominal muscles). Others could be out of Harry Potter: porphyria (a group of enzyme disorders resulting in purple urine) and alkaptonuria (a genetic disorder leading to a buildup of pigmentation.)

Sometimes conditions once classified as rare, like autism, become all too common. Others strike an unlucky few. A new disease called Sakati syndrome, named like many of these illnesses after its discoverer, a Syrian physician, has one known case study in the entire world — a young boy in the Middle East, says Mary Dunkle, vice president of communications for the National Organization for Rare Disorders, a nonprofit organization established in 1983 to help boost awareness and research funding for these disorders.

A key challenge, Dunkle says, is persuading pharmaceutical companies and universities to develop treatments for rare diseases given the few patients — and profits. In 1983, NORD helped pass the Orphan Drug Act, which provides incentives to companies that develop such drugs. Rare diseases are called orphan diseases, Dunkle explains, because for so long patients have been “abandoned and forgotten.”

When rare diseases do become more familiar, it is often thanks to celebrities coming down with them. One example is amyotrophic lateral sclerosis, a progressive neurodegenerative disease leading to paralysis and death. Today the illness is well known as Lou Gehrig’s disease, after the beloved baseball star felled by it. In 2003, Guillain-Barre syndrome received a welcome dose of publicity when researchers announced that it was probably this auto-immune disease, and not polio, that struck Franklin Roosevelt in the prime of his life, leaving him in a wheelchair.

But most rare diseases, and patients like Shal, remain stuck in relative obscurity, which can make diagnosis and treatment a challenge.

When Shal was growing up in tiny Byron, Ill., about the only clue something was wrong was that she was the smallest child in class. And the sun bothered her eyes — so much so that sometimes her older brother needed to lead her to school. When she was 10, a routine urine test came back out of whack. The family doctor sent her to a specialist in Rockford, who blamed her failing kidneys on sore throats and ear infections. “I knew there was something more wrong,” recalls Shal’s mother, Jan Frye, who worked as a school secretary. “I just felt that they were missing something.”

One study found that one in seven patients with rare disorders goes undiagnosed for more than six years. On average, an accurate diagnosis can take nearly three years — which delays treatment. There is an expression in medical school: “If you hear hoof beats, don’t think of zebras. Think of horses.” When there is a more exotic problem, many doctors have a hard time admitting it, says Dr. William Gahl, head of the Undiagnosed Diseases Program at the National Institutes of Health. “Physicians feel badly when they don’t know what the diagnosis is and have to reveal their ignorance,” Gahl says. “And that colors their relationship with the patient and the patient’s family. They are sort of grasping for straws.”

Shal’s dad, a truck driver, and Frye watched in frustration as Shal became sicker and weaker in high school. Sports were out of the question. Her hands became so wasted she could no longer play the piano. She had trouble swallowing. Ever her vocal chords were affected; she could barely be heard in school plays. When her weight dropped to 72 pounds and her kidneys were functioning at 10 percent of what they should be, the specialist referred Shal to Madison for a transplant. “I was like, ‘Thank God,’ ” her mother recalls. Finally they could get some real answers.

Frye donated a kidney to her daughter. After the transplant, an eye doctor at the hospital detected telltale crystals in Shal’s eyes. Frye recalls that her daughter came into her hospital room “bouncing like a little ball” immediately afterward. “Mom,” she said. “I have a diagnosis!”

About one in every 100,000 to 200,000 people are born with cystinosis, a genetic disorder characterized by the impaired transport of the amino acid cystine out of the body’s cells. Cystine then crystallizes in these cells, slowly destroying eyes, kidneys, liver, muscles, pancreas, brain, and even white blood cells. The disease primarily affects children; without treatment, most will develop end-stage renal failure by age 9 or 10. Shal’s late onset of the disease was unusual, says Gahl, who has treated Shal and close to half of the patients in the U.S. suffering from the rare ailment.

Gahl treats patients who suffer from other rare diseases, too. Cystinosis used to be a “death sentence,” he says, but today treatments can control, if not yet cure, the disease. “I enjoy seeing these patients now,” he says, “because I actually know something about cystinosis. For a lot of the other stuff, I don’t know what I’m talking about.”

Shal has found few doctors in Wisconsin who have seen other patients with cystinosis. As a teen, she needed to fly out to Maryland for treatment, where Gahl gave her an experimental drug called Cystagon that she still takes every six hours. Today Shal can order the drug, which has been approved by the FDA, by mail from a Pennsylvania pharmacy that specializes in medicine for rare diseases. But she still needs to fly out to the East Coast every other year or so for eye drops, since they are considered experimental.

The disease has lead to a nasty tangle of complications, including kidney failure. In addition to the kidney she received from her mom, her brother, her husband and a colleague have also been organ donors. She needs to give herself four shots a day of insulin to treat diabetes caused by the steroids she takes to prevent her body from rejecting her latest transplanted kidney. Altogether, she estimates she takes around 40 pills, plus supplements, a day. “She’s little, but she’s mighty,” says her mom.

But more difficult than the physical challenges, Shal says, was the loneliness. She dreaded telling dates why she didn’t want to grab a bite to eat, afraid that if she explained she had a weird disease that made swallowing hard “they wouldn’t want to deal with all my issues.” Then she met Jim. “It’s just made us closer,” he says. They got married in 2000; two years later, he gave her a kidney. “It was the most fulfilling thing I’ve ever done,” he recalls. “To help save not just a life, but the life of someone I love.”

The Internet helps many with rare diseases feel less isolated. Shal puts together newsletters and monitors the website for the Cystinosis Research Network, a nonprofit advocacy group. She keeps in touch online with 200 people with cystinosis around the world, though mostly she networks with parents, since patients tend to be children. She can count adult survivors like her on one hand, she says. There’s a man in his 40s who lives in Texas. A woman close to her in age with similar symptoms in Australia. And a brother and sister with the disease in Seattle. There were others, but “a lot of them are gone now,” she says.

She tries not to let it get her down. “My motto is, if I complain, I’m just wasting precious time when I could be doing something fun,” she says.

Like spending time with her husband and their three dogs, she says. Or exploring local antique stores and going to baseball games. Or traveling. Her doctors say this zest for life helps her overcome the challenges of a rare disease as much as anything they can do for her. “She takes advantage of all that life has to offer instead of worrying about her illness,” says Dr. Byran Becker, her UW transplant surgeon.

Last year, while waiting for her most recent transplant, Shal needed to go on dialysis. On her way home from the grueling treatments, she stopped at nurseries to shop for flowers. She planted black-eyed Susans, daisies and phlox in her backyard. This summer, she says, she is feeling healthy again. And her garden is in bloom.

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