Advance for Nurses—September 20, 2011
Nicole DePaul was born with diastrophic dysplasia, a rare form of skeletal dysplasia. She has mobility problems and walks with the aid of crutches, or uses a scaled down scooter to travel longer distances.
When hip pain and discomfort caused further mobility problems, DePaul sought medical counsel at the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias in Manhattan where doctors advised her she'd need a double hip replacement in the foreseeable future.
Since early childhood DePaul said she's had 25 surgeries to correct club feet and straighten her hips, knees and legs so she could walk. DePaul is a short statured person and among the almost 30,000 dwarfs who live in the U.S., according to the advocacy association Little People of America. Dwarfs (also called little people) are short-statured adults under 4', 10" tall.
"Of course I'm not looking forward to more surgery," DePaul said, "but Hospital for Special Surgery is a godsend for little people like me. Before the Greenberg Center opened many of us had to go out of state for treatment."
There are more than 300 distinct types of skeletal dysplasias that affect the body's bony structure and most of them lead to "dwarfing conditions," according to Cathleen Raggio, MD, orthopedic director for Skeletal Dysplasias at the Greenberg Center. The center is the only one in the Northeast to provide multidisciplinary, holistic healthcare services for infants, children and adults with skeletal dysplasias, the Hospital for Special Surgery is No. 1 for orthopedics in the U.S., according to the 2011 U.S. World and News Report Best Hospitals list.
Three Common Dysplasias
Of the three types of skeletal dysplasias - achondroplasia, pseudoachondroplasia and diastrophic dwarfism - achondroplasia is the most common form of skeletal dysplasia that leads to dwarfism, Raggio said.
"We know we can't fix the genetic causes for skeletal dysplasias," Raggio pointed out. "People with skeletal dysplasias generally do well but may require surgical intervention from time to time. Surgery is performed only when absolutely necessary."
"School brings its own unique set of challenges for each child," Raggio said. "Parents need to work with the school to meet children's needs."
This story originally appeared at advanceweb.com.