Sikeston couple finds hope in treatment of infant daughter's rare genetic disease

Saturday, November 29, 2014
Before-and-after photos of Georgia Elizabeth Jacobsen show how the 4-month-old who was diagnosed with Pompe disease days after her birth responds to treatments she receives every other week in St. Louis. (Submitted photo)

SIKESTON -- Kari Jacobsen of Sikeston has always believed things happen for a reason, and with the birth of her third child who was diagnosed with a rare disease, she's even more sure of that than ever before.

A week after Jacobsen and her husband, Carl, had their baby, Georgia Elizabeth, in July, they received a phone call at home that their daughter had Pompe disease.

"With the newborn screening, we found she was diagnosed with Pompe," Jacobsen said. "Pompe is a muscular disease that, over time, can break down the muscles. She's lacking an enzyme that breaks down the sugars her muscles produce."

According to the National Institute of Health, the disease affects only one in 40,000 babies. If untreated, Pompe is fatal.

"Medically, there's a lot of information of what it is, but the treatment didn't come around until 2006," said Jacobsen.

Georgia has had treatments every two weeks since she was 5 weeks old and that started in August.

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