Showing posts with label pediatrics. Show all posts
Showing posts with label pediatrics. Show all posts

Friday, September 23, 2011

She makes the most of what she's got


from toledoblade.com:

Growing up with a younger brother who has Down syndrome inspired Dr. Eileen Quinn to become a developmental-behavioral pediatrician.

"He's just one of my favorite people, and I felt like I wanted to work with people with disabilities," Dr. Quinn said of her 48-year-old brother, Dan Quinn, who lives in the Detroit area. "It's important for them to get optimal medical care."

So Dr. Quinn was prepared when she and her husband, Dr. Peter Smythe, found out their fourth daughter was going to be born with Down syndrome. Sara's birth seven weeks early with a heart defect was unexpected, but otherwise Dr. Quinn was ready.

"I was the most perfect parent to have a child with Down syndrome, there's no question about it," said Dr. Quinn, a University of Toledo medical school faculty member who works at Mercy Children's Hospital.

Sara underwent heart surgery at 6 months, and now the 13-year-old is a student and athlete at Sylvania's Timberstone Junior High. Someday, Sara hopefully will work and live in the community with some assistance, her mother said.

Showcasing such abilities and raising awareness about Down syndrome is the focus of the 10th annual Buddy Walk held by the Down Syndrome Association of Greater Toledo, an annual event for Sara and her family. Nearly 1,000 people with Down syndrome, their families, friends, and other supporters are expected to take part in the Oct. 2 walk at UT's Rocket Hall.

"I think it's important to have our kids out in the community," Dr. Quinn said. "They're our little ambassadors."

Down syndrome is a chromosomal abnormality affecting more than 350,000 people nationwide. A small percentage have an inherited form of Down syndrome, but that is not the case with Sara, Dr. Quinn said.

Not only does Dr. Quinn help those born with Down syndrome, but she treats babies born with a wide range of birth defects and neurological problems. And, these days, many of the children she sees have autism or other developmental disabilities, the pediatrician said.

Both Dr. Quinn and her mother were near or older than 40 when Sara and her uncle were born, which increases the incidence of Down syndrome, Dr. Quinn said.

Unlike when her brother was born, however, children with Down syndrome are more accepted these days, and they have more medical benefits and opportunities, she said.

When Sara played soccer, the Sylvania Youth Soccer Association allowed her to be an extra player on the field, Dr. Quinn said. That is one example of how groups and schools have made alterations so Sara could participate in activities and classes, she said.

"I just love the little bit of creativity … to include her," Dr. Quinn said, adding that it also helps other children become more tolerant of those with disabilities.

Sara receives educational assistance but attends classes with non-disabled peers at Timberstone, where she is a member of the volleyball team, a sport favored by older sisters Kathryn, Colleen, and Bridget. Swimming is Sara's favorite sport, but she also does karate and is well-versed in volleyball.

"Bump, set, and hit," said Sara, a seventh-grader who pumped her fist every time she hit the ball over the net in a pregame warm-up recently as her parents watched.

Luckily, 11 girls tried out for the 12-member volleyball team, so Sara was able to clinch a spot, Dr. Quinn said. Sara just wanted to be involved and with her friends, said her mother, who wanted her youngest to have fun, get some exercise, and learn teamwork, just like her sisters.
"I'm not looking for playing time and for her to be the star," Dr. Quinn said. "She and I are perfectly OK if she cheers most of the time."

While her older daughters have received numerous accolades for both athletics and academics, Dr. Quinn said while watching Sara, "I'm just as proud of that girl over there. She makes the most of what she's got."

Wednesday, June 8, 2011

Dr. George T. Capone featured at Down syndrome conference

from thedailystar.com:


Down Syndrome research scientist Dr. George T. Capone will be featured at a special full-day conference at The Kennedy-Willis Center at Pathfinder Village in Edmeston, NY on Friday, June 10. The conference, "Medical and Behavioral Issues in Down Syndrome" is open to parents, educators and professionals who work with people with developmental disabilities.

A printable registration form and more information on Capone's conference is available at www.pathfindervillage.org; a registration fee of $70 will be charged and includes conference materials, refreshments and lunch. For more information, contact Bonnie Laugen, director of the Kennedy-Willis Center, at 965-8377, ext. 154/112, or e-mail blaugen@pathfindervillage.org.

"For 15 years, people have turned to the Kennedy-Willis Center for the latest research information on Down syndrome," Laugen said in a media release. "It is very exciting to have this opportunity to share Dr. Capone's expertise with the community and learn about baseline research that will shape our understanding and methods of care for years to come."

Capone is one of the country's preeminent research scientists in Down syndrome, according to the release. Capone is the head of the Down syndrome clinic at the Kennedy Krieger Institute in Baltimore and has conducted research that explores the neurobiologic basis of cognitive impairment, behavioral and psychiatric disorders that may be associated with the chromosomal condition. He and his colleagues have been published in the Journal of Developmental & Behavioral Pediatrics, Journal of the Neurological Sciences and the American Journal of Medical Genetics.

Capone also is an attending physician at KKI and an associate professor of pediatrics at the Johns Hopkins University School of Medicine. He attended Wesleyan University and worked as a research assistant at the Dana Farber Cancer Institute, Boston, before obtaining his M.D. from the University of Connecticut in 1983.

The conference is part of the 15th anniversary celebration for the Kennedy-Willis Center on Down Syndrome, Pathfinder Village's outreach and education initiative. The center provides counseling and training for direct care staff, medical professionals and families who care for people who have Down syndrome and other disabilities.

Founded in 1980, Pathfinder Village is a privately funded, nonprofit, residential community for children and adults who have Down syndrome. For more information, visit www.pathfindervillage.org or www.pathfindervillagestories.org, or visit the Pathfinder Facebook page.