When Cassidy Niggeman was born, she weighed 4 pounds and measured only 17 inches. But it wasn’t until four years later that she was diagnosed with Turner Syndrome (TS), a female disorder caused by a missing X chromosome.
Inspired by their daughter, Chester Springs’ Steve and Kim Niggeman co-founded the Chain of Love Foundation for Turner Syndrome with Cassidy’s grandparents, West Chester’s Jack and Judy Niggeman. The nonprofit foundation and network fosters and funds research, early detection, the healthy management of symptoms (with growth hormone and estrogen replacement therapy), and more. It also offers grants for charitable activities to children and families impacted by TS. “As we’ve pumped up our public relations, Cassidy now happily tells people she has Turner Syndrome,” Kim Niggeman says of her daughter, who is now 10.
Common characteristics of this non-inheritable, incurable condition include short stature, lack of ovarian development, and cardiovascular, kidney and thyroid conditions. Scoliosis and hearing problems are common. Awkward physical features might include a webbed neck, arms that turn out slightly at the elbow, and a low hairline on the back of the head. No one knows the cause, and life expectancy is shorter. “You can line up 200 of these girls, and all will be completely different in physical appearance, chromosomal analysis and behavior,” says Niggeman.
Typically detected through a blood test that analyzes chromosomal composition, TS occurs in every one in 2,000 female births, though 98 percent of TS pregnancies spontaneously abort. About 80,000 females are affected in the United States. “There are eight girls with TS within a 5-mile radius of our house,” Niggeman says. “Pediatricians need to be educated.”
For more information, call (610) 696-4383 or visit turnerschainoflove.org.