29
May
2015
|
01:10 PM
Europe/Amsterdam

KC Star: Genome sequencing holds tremendous promise for infants, but issues abound

Kira Walker was born with a condition that stumped her doctors. Her pancreas was pumping out too much insulin, keeping her blood sugar dangerously low.

Medications weren't working. If her blood sugar remained uncontrolled, she risked brain damage. Surgery to remove her pancreas would leave her diabetic for life.

"She would wake up absolutely starving, screaming - her blood sugar was so low," said her mother, Amanda Webb. "It was her body saying, ‘I need nutrients or I'm going to die.'"

Then doctors at Children's Mercy Hospital used new technology to quickly sequence Kira's genome, the complete set of her DNA, including the 20,000-plus genes that direct the work of every cell in the body. They discovered a mutated gene that was making portions of Kira's pancreas hyperactive. Surgeons removed 40 percent of the organ to bring her insulin levels down to normal.

Now nearly 2, the rambunctious Lake Waukomis toddler is healthy and happy and tough enough to mix it up with three older siblings.

Read the entire article here and click here to learn more about the Center for Pediatric Genomic Medicine at Children's Mercy.

Source: The Kansas City Star