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Diastrophic dysplasia

Diastrophic dysplasia is a disorder of cartilage and bone development. It is inherited in a autosomal recessive pattern and affects about 1 in 100,000 births. more...

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Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility. This condition is also characterized by an inward- and downward-turning foot (called clubfoot), progressive curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth called a cleft palate. Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis, type 2. Diastrophic dysplasia tends to be less severe, however.

Mutations in the SLC26A2 gene cause diastrophic dysplasia. Diastrophic dysplasia is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, but in adulthood this tissue continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

This article incorporates public domain text from The U.S. National Library of Medicine


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A small wonder
From Milwaukee Journal Sentinel, The, 6/18/95 by Linda Clawson

Brookfield In a crowd of 12-year-olds, it's almost impossible to pick out Charlie Papen. He can blend in with other boys his age, sporting his shiny, wedge haircut tucked under a New York Yankees cap.

Come closer, however, and you see a sixth-grader who is sometimes mistaken by kindergartners for a potential playmate.

Although his young mind and life experience are growing rapidly, his body is not.

"One kid thought I was 3 years old," said Charlie, who is 43 inches tall and weighs about 51 pounds. "They'll say, `You want to come over my house some time?' "

Born with diastrophic dysplasia, a form of dwarfism caused by a recessive gene in his family background, Charlie could grow another 5 inches at best, although doctors have said that's not likely because of his bone structure.

Charlie also injured his spinal cord in a fall when he was 3 years old.

But there are nothing but positive thoughts to be found in Charlie, who rides a special bus to school but fits right into the regular classroom, whose fingers don't bend but can bang away quickly at a computer keyboard, who writes for a national publication on those with his condition, and who walks with help but manages a good game of basketball on his motorized bike.

Charlie also manages to find some humor in his differences from other kids, noting the advantages to his smaller size.

"I like being small," he said. "When we have a tornado drill and everyone else is scrunched over (under the desks at school), I can just lay down. It's kind of neat."

At birth, Charlie was an average-size baby, but his arms and legs were short.

Within 48 hours, his parents, Dick and Cathie, had a name for that condition. Within 24 more hours, they had an orthopedist. By the time their only little boy was 6 months old, the Papens had joined Little People of America, a national support group.

Charlie's parents and his sister, Carmen, a student at Elmbrook Middle School, are of average height.

"It was hard in a way," Cathie Papen said of the situation. "Somehow we coped rather well. We didn't have time to feel sorry for ourselves. There were things we had to do." Support Helped

The support from the Little People of America organization, from other families who had experienced such a birth as Charlie's and the work of Richard Pauli, a genetic counselor in Madison, helped the Papens to better understand what the future might hold for Charlie, Dick Papen said.

"It didn't take us too long for what is called acceptance," Dick Papen said. "We realized this was a blessing that we were able to have a child that we could pass along whatever we believed in and whatever our values were and the physical things would take care of themselves with treatment specialists and whatever else."

The family has adapted areas of their home to provide Charlie more independence.

A special step on the porch lets him walk right into the house and a three-step platform lets him step up to use the faucet in the bathroom. A Clapper was installed in his room for the lights and a special doorknob on his bedroom door because he cannot turn regular ones.

All of Charlie's closet shelves are just above ground level, and his parents bought his furniture at an annual Little People's convention. A sofa allows his feet to touch the floor when he sits. A Feeling of Independence

"He doesn't ask for these things, but when we are able to come up with something that is more adaptable, it makes him more independent," Dick Papen said.

"He feels more comfortable not always having to ask us to do something for him."

Charlie also has been able to adapt physically at Tonawanda Elementary School. He leaves class a little early to give himself some time to maneuver his motorized bike into the hallways.

Charlie need not adapt academically, however, teacher Steve Roecker says.

"He has worked hard to get above-average grades," Roecker said. "Other students work with him very well. He's never melancholy because of his situation. He has lots of friends."

Cathie Papen, who works as an instructional aide at Charlie's school, said the other students relate well to Charlie. "It's not a pity thing. It's not `How sad.' He's just a schoolmate. He's just a friend."

Dreams for the Future

Charlie has dreams and goals like other kids his age, such as driving, marrying some day, owning a home and living independently.

A lover of sports, he has played baseball in a league for disabled children and will chuck around a football with his dad. He is realistic enough to know that a career in sports is not in the cards, so he is aiming for work as a sportscaster.

He hopes to attend Notre Dame University.

Charlie also likes to write and draw. And he combs the streets with a friend to collect aluminum cans to earn money for computer software.

He puts his writing and typing talents to work as the children's editor for the Diastrophic Newsletter, a national publication for people with diastrophic dysplasia.

In April, Charlie received a certificate of achievement from the Foundation for Exceptional Children in the 1995 "Yes I Can!" program for his many extracurricular activities. He was recognized for the achievement by the Elmbrook School Board.

In accepting that recognition, Charlie said:

"Looking into the future, I always hope I will use well the gifts that have been given to me. The motto I suggest for everyone is to `Think Big.' "

Copyright 1995
Provided by ProQuest Information and Learning Company. All rights Reserved.

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