In April 1996, Robin Yu was 16, already a gifted musician and renowned violinist.
Then a sophomore at Santiam Christian High School, she had soloed with the Oregon Symphony. In 1997 and 1999, she played at the Kennedy Center in Washington, D.C. She made twice-weekly trips to Portland to work with a violin coach and rehearse with the Portland Youth Philharmonic. She was featured on the cover of a special section of the Gazette-Times called “Dreamers.” She dreamed of being a professional musician.
Now 30, Yu has abandoned her dreams and sold her violin. She can’t bear to listen to music, a too-painful reminder of all she lost. A year after the newspaper article appeared, Yu was diagnosed with Pompe disease, a debilitating illness that attacks the muscles.
Pompe disease is the illness featured in the recent movie “Extraordinary Measures,” starring Harrison Ford and Brendan Fraser. The movie is based on the true story of a New Jersey man, John Crowley, who fought to fund research to discover a treatment for his two young children, Megan and Patrick; both suffered from Pompe disease.
At the time, in 2000, there was no treatment and children died painful, early deaths. His efforts resulted in the production of a treatment that now benefits both children and adults. The movie was filmed in Oregon and on location at Oregon Health & Science University.
Yu lives in Portland now and makes twice-monthly visits to OHSU, just a block from her home, for medical treatments. Every other Tuesday, she sits in a hospital room and undergoes an infusion of the enzyme treatment that helps slow the progression of the disease.
“Fatigue is a huge factor for me and I do feel the treatment has helped a little in that area,” Yu said. “I don’t need a week or more to recover from one outing. Right now, I probably need just a few days to recover from an outing.”
On one of those Tuesdays, just down the hall from Yu’s hospital room in a room with big glass windows and a panoramic view, Sharon Krueger, 49, of Corvallis, underwent the same treatment. “On nice days, I have Mount Hood,” Krueger said. “This is the old solarium in the TB ward.”
There are 12 diagnosed cases of Pompe in Oregon, said Dr. Edward Cupler, who oversees Krueger’s treatment and is an expert on Pompe. Yu and Krueger are two of the 12.
Krueger is a research assistant professor at Oregon State University’s Linus Pauling Institute. She brought a laptop and worked from her wheelchair during the six-hour treatment. A nurse checked her vital signs every 30 minutes.
Krueger and Yu receive the treatment with Myozyme, at no cost, as a continuation of a clinical drug trial in which they participated. They first joined a one-year observational trial in Seattle in early 2004. They were among 90 people worldwide selected to participate in an 18-month double-blind, placebo-controlled study in Los Angeles.
Because the drug is not yet FDA-approved for adults, both women will continue to receive the drug for the foreseeable future. When the treatment is approved, a step that could come this summer, it’s expected to cost $300,000 to $600,000 a year for life. The drug has been approved for infants and children. Because the drug is administered based on body weight, the cost for infants is $25,000 to $50,000 a year.
“Pompe disease isn’t something that anyone has every heard of; this includes doctors,” Krueger said. “The symptoms are very variable from one person to another. It’s a highly misdiagnosed disease. Most people take six years to get a diagnosis.”
Krueger has been living with and battling the disease for 22 years. Her first warning came when she was a graduate student at OSU in 1987.
“In the Faculty Staff Fitness program they used to do blood chemical screening,” Krueger said. “The results came back and about a half-dozen of my numbers were elevated.”
She knew the results meant trouble with her heart, liver and muscles. She went from a local general practitioner to a neurologist in San Francisco searching for answers. She was fortunate in one sense: it only took six months to get the diagnosis.
Over the years, Krueger has become a lay expert on the diease.
Pompe is a genetic, autosomal recessive disease, which means each affected individual received two copies of an abnormal, defective gene — one from each parent.
“Diagnosis can happen any time from birth to death,” Krueger said. “The time of onset and the severity of the disease depends on which mutant gene you inherit.” And symptoms vary, although the disease manifests in weakness of skeletal muscles and weakness of the diaphragm, affecting breathing.
The defective gene causes problems with glycogen storage. “Normally, sugars are stored in our cells as glycogen and have to be broken down. But with Pompe disease, patients can’t break down glycogen,” Cupler said.
“Extra glycogen in cells goes into the lysosome — the little trash can of the cell,” Krueger said. “Because it’s a mutant protein, it doesn’t do its job. So you have misshapen, distorted, dying muscle cells. In little kids, it also gets the heart.
“Myozyme is genetically the same as the natural human enzyme that degrades excess glycogen,” Krueger said. “Once it’s introduced into the bloodstream, it has to find its way into the muscle cells and into the lysosomal compartment, where it breaks up the glycogen. “It’s a real difficult journey.”
Like Yu, Krueger had to accept that her life would be irrevocably changed.
“I was training to be a traditional field Mendelian plant breeder,” Krueger said. “I completed my Ph.D. I immediately needed to transition. I knew a wheelchair could be in my future. I knew I probably couldn’t keep traipsing around through fields.”
She stayed in the field of genetics but turned from plant to animal studies and from field to lab work. At the Linus Pauling Institute, she conducts drug metabolism and diet and cancer studies.
She’s been in a wheelchair for five years.
Krueger is grateful for the support she has received from the university and her colleagues at the institute, which has made it possible for her to continue working and participate in the drug trials. A bathroom was modified for her use on the fourth floor of Weniger Hall. She needs a special lift that elevates the toilet seat to about 28 inches high, so she can slide to her feet and transfer to and from her wheelchair. “There’s one bathroom on the entire campus I can use.”
In the fall of 2005, Krueger began participating in an 18-month drug trial: a double-blind placebo-controlled study with Myozyme. She logged 43,000 miles traveling to Los Angeles every other week for nearly eight months. Her friends and colleagues took turns accompanying her.
“I always traveled with someone, primarily someone from my lab. They essentially donated their vacation time trying to help me stay healthy.”
In 2007, Krueger began receiving the actual enzyme treatment; she had received a placebo in the first study. She drives herself to Portland in a specially equipped van.
Over the years, Krueger has spent more than $60,000 for renovations to her home. She’s had it expanded from 1,000 to 1,500 square feet, adding a room with an Endless Pool and an electronic lift so she can work out at home. She had doorways widened and the bathroom and the kitchen remodeled. Her oven opens from the side, level with the counter, and she has an electronic system that lowers her glassware and breakables.
“The newest toy I have is a whole body vibration platform,” Krueger said. “I’m very, very independent but very highly dependent on technology. I see myself as a very ordinary person with a really unique situation and I do the best I can with it.”
For Krueger, the treatment and the regular use of the vibrating platform seem to offer small gains.
“After three months, I think I’m getting a little more hip stability. I do think there’s some gain and it’s been a long, long time since I’ve had any gain in the core hip muscles. It gives a little hope that I can look further into the future and see that I’m going to keep my independence.”
A future less certain
For Yu, the future is less certain and she is dependent on her family. Her father, Kitson Yu, formerly a computer science teacher at Linn-
Benton Community College, resigned his position in 1997, when administrators wouldn’t approve a leave of absence to care for his daughter.
“I was caught between either my work or my daughter,” Kitson Yu said. “No choice.”
He now works as a real estate broker. “I chose that so I can choose the hours and the day that I can work.” His schedule revolves around his daughter’s care.
For a while, Robin Yu continued playing violin and tried to attend college.
“I went to USC on a music scholarship. I was there part- time. I didn’t finish college. I came home. I just got tired.”
She stopped playing violin in 2001 when it became too hard to practice. She tried taking courses online at Portland Community College. Again, she got too tired and fell sick, unable to complete the coursework.
“I don’t really have the energy to go out and find what I want to do,” Yu said. “The plan was to be a studio musician. I got kind of lost. The violin is kind of my identity.”
As she spoke, Kitson Yu began to cry. Robin Yu instantly noticed the tears and said, in a quiet, tender voice: “Oh, Dad.”
With her treatment complete, Yu stood; her father stood nearly simultaneously. He moved to her left side and tucked his right arm under her elbow for support. She shuffle-wobbled toward the door.
“She doesn’t need help yet,” her father said. “I’m just being careful.”