Diamond Blackfan Kansas 1999
A SMALL WORLD Photos by MARC HALL / The Salina Journal Six-year-old Paige Mauch sits with her older sister, Marci, in a big chair that will be on display at the home show. The chair will be used to help raise funds for research on Diamond Blackfan Anemia, a rare blood disease. Paige is one of only around 300 people in the United States and Canada with the disease. Young girl is tiny but tough Money raised at home and garden show may help find cure By KARA RHODES The Salina Journal At 6, Paige Mauch is the size of a 3-year-old. She receives shots during her bedtime routine routine and has had more than 300 blood tests during her short life. Paige suffers from a disease, Diamond Blackfan Anemia, that is so rare it is shared by only about 300 people in the United States and Canada. Marsha and Bill Mauch, 219 Fairdale, knew something wasn't right before their daughter was born because she was not growing at a normal normal rate. She weighed just 5 pounds, 6 ounces when she was born full-term, and was anemic. A test at six weeks revealed revealed the problem: Their daughter did not produce enough red blood cells, and without daily doses of medicine medicine or monthly blood transfusions, transfusions, she would not survive. There are no Diamond Blackfan Anemia patients older older than their 40s, Marsha Mauch said. Paige responds to a steroid treatment that, as a side effect, suppresses her growth. She is more than a foot-and-a-half shorter than her kindergarten friends at Meadowlark Elementary. Elementary. "I get shots every day. It makes me small," Paige said. "We're lucky, actually," her mother said. "She responds to the steroids." Many patients don't respond Born with DBA, Paige takes daily doses of steroids and growth hormone. Here she sits with her mother, Marsha. to steroids and must receive blood transfusions every three to six weeks. Transfusion still might be the fate for Paige: Steroids eventually may become ineffective ineffective or toxic. "We feel the same way about it any parent would," said Bill Mauch, a urologist. "We're hopeful there will be a cure." Gene research gives hope Science recently took one big step toward finding a cure. A gene related to the disease has been located and isolated, according to a report in last month's Nature Genetics magazine. magazine. But because the disease is so rare, raising money for research research is hard, Marsha Mauch said. The Diamond Blackfan Anemia Foundation was founded in 1994 to raise money for research. How can we help? That organization will be the recipient of a fund-raiser this weekend at the Salina Homebuilder's Homebuilder's Association's Home and Garden show at the Bicentennial Bicentennial Center. The show opens at 5 p.m. Friday and continues continues from 10 a.m. to 8 p.m. Saturday and from 11 a.m. to 5 p.m. Sunday. The fund-raiser will center around a red chair so huge it makes adults who climb into it appear to be tiny. For a $3 donation to the foundation, foundation, Brokers Realty, 621 W. Cloud, will take pictures of people in the red chair. Just a normal little girl Despite the daily doses of steroids and growth hormones, the disease doesn't seem to slow Paige down. Thursday, she wrestled with her older sister Marci on the red chair at the Bicentennial Center, where her family gathered to get a look at the unusual fund-raising fund-raising tool. She does all the things that are typical of a girl her age. She's got bruises on her knees from falling, and she wrestles with Marci and her younger sister, Kylie, 2. She is in Girl Scouts and dancing classes. Her next recital is coming soon. What kind of dance can she do? "The itsy-bitsy," she said, shyly pushing her head into her mother's shoulder. It's the Itsy Bitsy Teeny Wee- ny Yellow Polka Dot Bikini dance, her mom explained. But beyond the normal 6- year-old activities are the three trips a year to Wisconsin, Wisconsin, where her hematologist is located. "It's a real rare disease so we have to take her a long way for specialists," Marsha Mauch said. "We worry about what's going going to happen to her," Bill Mauch said. "But we're hopeful." hopeful."