- The Washington Times - Tuesday, January 21, 2003

Mattie Stepanek plans on soaring on wings like an eagle when he arrives in heaven. Because Mattie has a neuromuscular disease, he spends a lot of time imagining what it will be like to be healthy. His illness has made the use of a powered wheelchair, ventilator and supplemental oxygen a necessity.
In the meantime, the 12-year-old Rockville boy has served as the national goodwill ambassador for the Muscular Dystrophy Association for the past two years. The organization works with 43 neuromuscular diseases, including the one affecting Mattie, dysautonomic mitochondrial myopathy, which usually is most severe when diagnosed in infancy. In his spare time, Mattie has published five books of poetry, and his work has been on the New York Times best-seller list. His newest book is "Loving Through Heartsongs."
"The disease is a curse at first sight, but I wouldn't be me without it," Mattie says. "I haven't given up. I don't sit in the corner and cry about my life. I thank God for life. I make the fullest of it. I go through 'why me' phases. I cry and get upset, but instead of being evil and mad, I say, 'Why not me?' Better me than a kid that has all kinds of stress on his or her life."
Mattie is the inspiration for the upcoming Heartsongs Gala, sponsored by the Muscular Dystrophy Association offices in Greenbelt and Fairfax. The event, which celebrates his philosophy of "playing after every storm," will be held Feb. 15 at the Renaissance Mayflower Hotel in Northwest. Funds raised will benefit local research programs for neuromuscular diseases and services for families in the Washington and Baltimore areas affected by the illnesses.
Mattie's mother, Jeni Stepanek, says she is proud of her son and his persevering spirit. Ms. Stepanek, 43, who has an adult-onset form of mitochondrial myopathy, faces many of the same challenges as Mattie, but the progression and severity of her neuromuscular disease differ from the progression and severity of her son's condition.
While Mattie has been sick since birth, Ms. Stepanek started showing signs of illness in 1992. Although Mattie can't run, he can stand and walk short distances, but his mother is unable to leave her wheelchair without assistance. Her autonomic systems, such as digestion, breathing, body temperature and blood pressure, are stronger than his, however. Mother and son live at home.
Ms. Stepanek's other three children, Katie, Stevie and Jamie, who have died, were diagnosed with the same condition a few months after her illness was identified. Before Ms. Stepanek learned of her condition, doctors had different theories for each child's sickness.
Ms. Stepanek says she hopes the Heartsongs Gala will become an annual fund-raising event.
"It will be a living celebration," Ms. Stepanek says. "We're so close and yet so far from finding a cure."
It's a common misconception that the Muscular Dystrophy Association works with only one disease, says Eric Hoffman, director of the Center for Genetic Medicine and the A. James Clark Professor of Pediatrics at Children's National Medical Center in Northwest.
Along with Harold Schaitberger, the general president of the International Association of Fire Fighters, and Ed McMahon, a leader of the Muscular Dystrophy Association, Mr. Hoffman is being honored for his contributions in the field of neuromuscular diseases as a 2003 Heartsongs Award Recipient at the gala.
Under the umbrella of the Muscular Dystrophy Association, Mr. Hoffman says the organization works with neuromuscular illnesses divided among eight categories. For instance, mitochondrial myopathy is included in the group of metabolic diseases of the muscles. Most of the illnesses are caused by gene defects, resulting in varying forms of weakness and wasting of body muscle.
In 1987, Mr. Hoffman, who holds a doctorate in genetics, was part of the team at Harvard Medical School that discovered what causes Duchenne muscular dystrophy, the most common of the muscular dystrophies. Characterized by rapid progression of muscle degeneration occurring early in life, the disease mostly affects males an estimated one in 3,500 boys worldwide.
Those people with Duchenne muscular dystrophy lack the gene that makes the protein dystrophin, which strengthens muscle cells. Without the protein, muscle cells can explode and die. Although doctors know which gene defect causes most of the neuromuscular diseases, in some instances, such as with dysautonomic mitochondrial myopathy, the defective gene is still a mystery.
Mr. Hoffman is running trials with mice and humans to better understand both the normal function of dystrophin and the pathology of Duchenne muscular dystrophy, which hopefully will be used to find a cure for patients. Five clinical trials are under way through the Center for Genetic Medicine. Some 150 international scientists are searching for a drug that will produce the appropriate amounts of dystrophin in people with the illness or come up with ways to keep their muscles from being destroyed.
So far, the steroid prednisone has been found to improve muscle strength in children by about 30 percent, which increases ambulation for about three to five years. The drug seems to work best when it is administered at an early age. Mr. Hoffman is hoping progress in understanding this neuromuscular illness will aid research in other, similar conditions.
"Even though we found out what's missing, it's hard to fix," Mr. Hoffman says. "We've gotten superserious about fixing this. Sitting back and saying it's too hard is not an acceptable answer."
While Mr. Hoffman and his colleagues continue to research Duchenne muscular dystrophy, Dr. Thomas Crawford, associate professor of neurology at Johns Hopkins Hospital in Baltimore, is focusing his efforts on spinal muscular atrophy. It is a motor neuron disease that is caused by the gene that makes the protein called survival motor neurone.
Patients with this disease make insufficient amounts of survival motor neurone. As a result, the major cells in the spinal cord that tell the muscles in the body to move are unable to function properly. Scientists are searching for a drug that will help the body produce the protein in regular doses.
About one in 6,000 children suffers from spinal muscular atrophy, Dr. Crawford says. When patients are diagnosed, he says, they commonly ask how they got the disease. Usually no one in their family suffers from the sickness. However, he says, genetic diseases are not necessarily hereditary.
"Since it's genetic, people say, 'It's not in my family. I don't have to pay attention,'" Dr. Crawford says. "That's not correct. Not all genetic diseases run in families. When the egg and sperm come together, some mistake is made. Genetic means we are all at risk because we all have DNA."
In addition to drug therapy, specialists such as Dr. Kenneth Fischbeck, chief of neurogenetics at the National Institute of Neurological Disorders and Stroke in Bethesda, are considering the possibilities of gene therapy and stem-cell therapy.
Ideally with gene therapy, Dr. Fischbeck says, scientists would like to use copies of good genes from normal deoxyribonucleic acid, or DNA, the substance that carries the genetic code that determines the characteristics of all living beings. After copying the genes, doctors would insert them into the body through a virus that could carry the gene without harming the patient.
With stem cells, he says, scientists would replace the muscle itself by injecting healthy cells that can develop into muscle through cell transplantation. However, it's more difficult to gather stem cells than genes. Although stem cells can be retrieved from adults, he says the best ones are obtained from an embryo, which most likely would damage the fetus.
"You are balancing normal embryos and fetuses against people dying of muscular dystrophy," he says. "There is a lot more work that needs to be done to see if it's going to be effective. It's almost just an idea. There's not real good evidence it's going to work."
Interacting with patients and their families gives Dr. Fischbeck the motivation to keep exploring the possibilities for curing neuromuscular diseases. He is hopeful a cure will be found soon.
"It's hard to follow patients over a period of years and see them get weaker and weaker and not know what to do about it," he says.
For more information about the Heartsongs Gala, contact the Muscular Dystrophy Association at 6301 Ivy Lane, Suite 108, Greenbelt, MD, 20770. Call 301/486-7680, or log onto www.mdausa.org.

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