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A Family Knows

When Lanah Jones plays with her little brother, he does his best to protect her.

Since just weeks after she was born, the five-year-old girl has been accustomed to hospital stays.

Her younger brother, Carter, stands almost a full head taller, but the two sit together taking turns running cars down a twisty track in the hospital play room.

“He always wants to take care of her,” says their mother, Stephanie Jones, watching them play. “Our main thing is to make everything as normal as we can, but we all know we have to take some extra care.”

An unusual case

The little girl with temporary princess tattoos on her arms and a shy smile has a rare genetic condition rarely see in the United States. But her family says that genetic testing has not only helped them identify the problem, but know what to expect next.

“We try not to think about her being sick any more than we have to, but it’s a relief to know what it is,” Stephanie says. “We know what to look for now.”

When Lanah was only three weeks old, she seemed to have a cold that was getting progressively worse. Three weeks later, the family’s local hospital in Chamberlain ran some tests, discovering that her blood sugar levels were dangerously high.

The little girl, who was diagnosed with insulin-dependent diabetes, was so sick that she was flown into Sioux Falls for treatment at Sanford Children’s Hospital. Her doctor, pediatric endocrinologist Laura Davis-Keppen, wanted to do genetic testing to determine if there was another condition causing her diabetes.

“When you have children this young with diabetes, genetic testing is recommended,” Dr. Davis-Keppen said. “The problem was that the tests we needed were extremely rare and very expensive.”

Finding an answer

A Sanford genetic counselor located a lab in England that ran the test that diagnosed Lanah’s condition as Wolcott-Rallison Syndrome, a genetic disorder that is rarely seen in this country. The condition, most common among the Bedouin population, generally causes early-onset diabetes, liver dysfunction and skeletal abnormalities.

As an infant, Lanah had shown no signs of the bone problems that her disease would later cause. While she had shown some elevated liver enzymes in tests, her doctors would never have known that she was in danger of liver failure.

“Her liver didn’t act up until after the diagnosis,” Lanah’s mother said. “And then it did right away.”

In 2009, Lanah’s liver began to fail. The very sick little girl was taken to a Nebraska hospital to get ready for a liver transplant before she started to recover. Since then, she has had some surgery to put plates in both knees and extensive dental work.

“The testing allowed us to treat her and save her life,” Dr. Davis-Keppen said. “We know what to watch for and that she needs to get to the hospital when she’s sick.”

A regular childhood

Today, Lanah lives a very normal life, going to school and playing with her brother. She loves to play dress up, drive her Barbie Jeep and play with the family dog. When a child specialist in the hospital playroom offers Lanah and her brother teddy bears, she snuggles with her new toy.

The little girl regularly travels from her home in Lower Brule to Sanford for appointments with Keppen and other specialists. The family feels like hospital staff really cares about Lanah, seeing her as more than just another patient, her mother said.

“When I see how they treat her, it touches me,” Stephanie said. “She’s as important to them as she is to us.”

Posted Date: June 2011