When Miss Ohio Mackenzie Bart burst into the spotlight, using ventriloquism as her talent to break into the Miss America pageant’s Top 10, she also highlighted a little-known disease that afflicts one of every 20,000-60,000 births worldwide.
Bart, 22, an atmospheric sciences major at Ohio State, listed universal newborn screening as one of her platforms because of her sister Demetria’s lifelong struggle with Smith-Lemli-Opitz Syndrome.
The rare genetic disorder, sometimes misdiagnosed as autism, has a wide array of effects. Mildly affected victims may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability or physical abnormalities.
It can be characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems and behavioral problems.
Infants with Smith-Lemli-Opitz have usually have weak muscle tone, experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused toes or extra fingers.
Bart’s sister falls into the midrange of effects. Unable to produce cholesterol, Demetria has the size and mental capabilities of an eight-year-old. Her treatment was delayed for a long time because of wrong diagnoses, Bart said.
Millions of babies in the U.S. are routinely screened each year. The most common tests, on a few drops of blood from pricking the baby’s heel, look for inherited disorders. Hearing tests and a skin test to check for oxygen levels, looking for telltales of heart defects, are also common.
But some testing “” including that for Smith-Lemli-Opitz “” are not as common. That’s why more comprehensive newborn screening is such an important cause for Bart.
“I want to make sure every state is up to par and testing for all 56 diseases because I’ve seen not only how my sister has suffered because of it, but how other children are being affected,” Bart told the Associated Press.
For more information on the syndrome, visit the Smith-Lemli-Opitz Foundation’s website at www.smithlemliopitz.org.
