An 8-year-old Spokane girl is receiving an experimental drug at Sacred Heart Childrens Hospital for an extremely rare muscle disorder called Pompe Disease.


Pompe Disease is caused by an enzyme deficiency. It keeps the body from processing glycogen, commonly referred to as starch, into glucose, or sugar that the body needs to survive. Glycogen builds up in muscle cells, causing muscles to fail. It affects the heart, skeletal, and respiratory muscles. There is no cure for the genetic disease, which typically is fatal by age 2.


The girl here who suffers from the disease, Maria Duff, is unable to walk and must use a ventilator to breathe most of the time, says Dr. Carl Garabedian, a pediatric cardiologist at Sacred Heart, who is overseeing her treatment. She receives nourishment through a feeding tube, and has trouble speaking, he says.


Maria started receiving an enzyme-replacement drug about three months ago to help her body process glycogen. She is scheduled to take the medicine for a year as part of a program sponsored by the drug manufacturer. If the treatment is successful, Maria will need to receive the drug for the rest of her life to stay alive.


In addition to delivering the medicine, Sacred Heart is monitoring and charting Duffs progress, Garabedian says.


We hope the drug will allow her to walk and live a long and normal life, he says. The disease affects all of the bodys muscles.


Marias parents, Tim and Eileen Duff, approached Garabedian after hearing about the drug through an informal support network of families who have children with the disease.


Weve been waiting on this drug for years, and when it finally became available we were very excited, says Eileen Duff. There is another girl in Louisiana who is about the same age as Maria, and she has been on the drug for a year. Her mother has said that she was basically dead and worse than Maria before taking it. Now, shes doing remarkably well.


The Duffs say they have seen improvement in several areas, including Marias increased appetite, body movement, and longer times off the ventilator.


Prayers and good medical care have kept her going this long, says Eileen Duff. Before the drug, she was going downhill. She wasnt as active, and her energy level was down. Now, her energy level is up, and she has more endurance.


In her soft voice, Maria Duff says shes feeling better. The shy girl zips around the family living room in her electric wheelchair with surprising speed.


Mmmm, yes, she says. I want to go outside.


Her mother says her daughter dreams of riding horses, running, and playing in the snow with her friends. The mere mention of riding a horse brings a faint smile from her.


Garabedian says its too early to proclaim the therapy a success.


Thats why we were testing it for a year, he says. We dont know how its going to affect her. There have been outcomes where the person had an allergic reaction to the drug, but so far, she has shown no signs of that.


The Duffs already have lost one child to the disease. Their son, Joseph, died when he was 15 months old. They have two other children who show no signs of the disease, and are healthy.


Joseph was much weaker than Maria, Eileen Duff says. Weve been waiting for this procedure for years.


The Spokane family isnt being charged for the expensive drug, and Medicaid is covering the cost of administering the therapy at Sacred Heart for a year. The drug that the girl is receiving is a genetically-engineered product called Myozyme, and is administered intravenously every two weeks at Sacred Heart. Maria spends about eight hours in the hospitals intensive care unit each time she receives the medication.


Myozyme is manufactured by Genzyme Corp., of Cambridge, Mass. The company has developed and sells several other enzyme-deficiency drugs, says company spokesman Bo Piela, who was reached at Genzymes offices.


Piela declines to say how much the drug costs.


Similar enzyme drugs cost a patient between $180,000 and $200,000 a year, he says. Most health insurance companies will pay for these types of drugs.


The pharmaceutical company currently is conducting trial studies of the drug around the world on young infants and toddlers who have Pompe Disease. Maria is participating in an expanded Genzyme-sponsored experimental program has been approved by the U.S. Food and Drug Administration, but isnt part of the clinical trials involving infants and toddlers.


Genzyme plans to apply this month for approval to sell the drug in Europe and expects to ask the FDA next summer for permission to sell it in the U.S.


We have seen promising results in early small clinical studies, says Piela. The important thing is to be able to find patients as early as possible to intervene before the disease has done its damage.


Pompe Disease afflicts an estimated 5,000 to 10,000 people worldwide. It occurs in one in 40,000 births, a Pompe Disease community Web site says.


People with the disease inherit an abnormal gene from both of their parents. There is a 25 percent chance a child will get the disease if both parents carry the abnormal gene. The disease also can occur in juveniles and adults, but the symptoms generally are less severe.


Pompe Disease is difficult to diagnose, says Garabedian. In the case of infants, symptoms include severe lack of muscle tone and an enlarged liver and heart. Babies who have it dont crawl, and have trouble breathing and cant hold their heads up.


Of the Duffs, Garabedian says, If they hadnt had a son who already had it, they would never have known.