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RESEARCH UNCOVERS THE KEY TO PREDICTING MUSCULAR DYSTROPHY

SHARE RESEARCH UNCOVERS THE KEY TO PREDICTING MUSCULAR DYSTROPHY

Preston Maxwell will graduate from Cedar City High School in May - a graduation that doctors were sure would never take place because he has spinal muscular atrophy - a form of muscular dystrophy, also known as Werdnig-Hoffman disease.

Preston's parents, Gerald and Carma Maxwell, were told by physicians that Preston probably wouldn't live another 18 months when he was diagnosed as having the disease at age 8 months.Now specialists from New York, Boston and Salt Lake City have informed the Maxwells of a scientific breakthrough that eventually may help in the fight against the crippling disease.

The researchers have announced that they have identified the location of a defective gene or genes that cause this form of muscular dystrophy. The discovery will allow families to determine if they carry the defect.

`This is a landmark discovery in the Muscular Dystrophy Association's 40-year effort to find the causes of and cures for these tragic diseases," said Robert Ross, vice president and executive director of the association, which funded the research.

In a scientific paper released in Nature magazine, researchers T. Conrad Gilliam of Columbia University in New York and Dr. Theodore Munsat or Tufts University in Boston, explained that to reach their conclusions they used a cell bank containing information from 13 families - including the Maxwells.

The team studied 23 pairs of human chromosomes - zeroing in on Chromosome 5. "A year ago representatives of the Howard Hughes Medical Institute (at the University of Utah, which participated in the research) called and said they would like to come and get blood samples from each member of the family," said Gerald Maxwell. "I told them that to help someone else, I was willing to let them come. This is the first I have heard of it since then."

The researchers took samples from Gerald Maxwell, his wife, Carma, their eight children and Gerald's mother. Four of the children have the disease and four have no signs of it - although each is a carrier of the recessive gene.

"I think they were excited to have us participate because we have such a large family," said Carma Maxwell. "And apparently they found something in the chromosome of the kids affected that the other kids don't have."

Gerald and Carma Maxwell both carry the recessive gene and had three children before Preston was born. He was the first to show signs of the disease and has spent many years in a specially designed chair that has allowed him to stay mobile.

Preston's limbs are emaciated, but his spirit is strong - and so is his determination. He plans to attend Southern Utah State College in the fall and hopes to be a psychiatrist someday.

Physicians told the Maxwells they could have more children without worry of another occurrence of the disease.

But Shayla, 16, Deena, 15, and Stasha, 11, all have spinal muscular atrophy. One sister, born after Deena, has not been affected.

"When we married neither of us had any idea we carried this recessive gene. Doctors told us the chance of finding each other was one in 1 million," said Carma Maxwell.

When Stasha was born the Maxwells were told that only 17 people west of the Mississippi were diagnosed as having spinal muscular atrophy - and four were in their family.

The couple's brothers and sisters are all carriers of the recessive gene, but it hasn't shown up in their children. Doctors explain that their mates would have to carry the same gene for the disease to occur.

Gerald Maxwell said he didn't know whether the new discovery could help his four afflicted children, but said the family was willing to continue working with the researchers to help others yet unborn and to solve this part of muscular dystrophy mystery.

"I hope that our experience and participation in the study will help others. There is always hope," he said.

The disease affects children in degrees. Some suffer from mild muscle weakness; others pronounced weakness. The disease can result in death, generally during early adolescence.

But today two of the Maxwell girls attend high school, and Stasha is a fifth-grader at Enoch Elementary School. All four have teachers' aides who assist them at school and the Muscular Dystrophy Association purchased wheelchairs for the children to use at a cost of $8,000 each.

Preston said he was glad to be part of the study to help find a cure for the disease and prevent it from happening to others.

The New York study has been an international one. Of the other 12 families involved, one is from Poland and another from Israel. The other families are from Colorado, Connecticut, Florida, Michigan, New York, Pennsylvania, Illinois and Texas.