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Ava Jones : One special story from the WTKA Takeover for Mott radio-a-thon

Ava Jones and her mother, Kori

Ava Jones with her mother, Kori. Ava has a rare genetic disorder and hypotonia, which leads to weak muscles. Because of this, she is unable to eat orally and uses a feeding tube.

The Jones family had no reason to anticipate health problems with their third child, Ava.

Ava’s mother, Kori, had a typical pregnancy and delivery and had two healthy children at home. But just 10 weeks after delivery, the Jones family was at the C.S. Mott Children’s Hospital Emergency Department.

Ava came in because of a fever and was admitted for treatment. Soon, the chief resident was able to determine the cause of Ava’s illness-  aspiration pneumonia brought on by  inhalation of food into the lungs.

The cause of the pneumonia, difficulty swallowing properly, was attributed to hypotonia, or weakened and underdeveloped muscles. However, Ava also exhibited traits that Mott physicians believed linked to genetics and suggested she have testing done.

“At birth, Ava had other markers, like oddly shaped ears and an enlarged head,” Kori says. “But, as parents of two other typical, everyday kids, we were a bit in denial of the possibility of genetic problems.”

The care staff at Mott gave the Joneses some time before suggesting the genetic testing again, and Kori says she was appreciative that they approached the subject with sensitivity, taking time to explain the process and value of testing.

Ava Jones sports a U of M outfit for Halloween.

Ava shows her U-M pride with a Wolverine cheerleader Halloween costume.

“We had a phenomenal inpatient hospitalist team,” says Kori. “Looking back at the whole stay, I’m sure it was overwhelming, but it didn’t feel like it was because the way they handled our situation was just right. They have a gentle way of going at the parents’ pace and giving information appropriately.”

With a better understanding of genetic testing, the Jones family agreed to have Ava see Jeffrey Innis, M.D., a pediatric geneticist at Mott.

Dr. Innis was able to find a partial duplication of Ava’s 1 chromosome that may account for her development differences, like hypotonia, hearing loss and heart defects. In this case, Ava’s duplication was so incredibly rare that her disorder didn’t even have a name. There was no literature to prepare them for the steps Ava would or would not take during development.

“In reality, the testing didn’t end up telling us what to expect for Ava,” says Kori. “But it did explain that she will have differences, and that this is why.”

The thought should be overwhelming, but Dr. Innis helped lead the Jones family in a direction of related treatments.

“The knowledge he has to offer is incredible,” says Kori. “It feels like seeing all kinds of specialists in one doctor, and he was giving us direction.”

The Joneses now see a spectrum of specialists across C.S. Mott Children’s Hospital who support in managing and treating Ava’s symptoms as they come.

“We have amazing support here. We trust our doctors,” says Kori. “With the vast array of services and specialties provided every day, it is truly amazing when you see them all work together.”

Ava, her parents, and her older brother and sister take a family portrait.Ava celebrated her first birthday this spring, and was able to transition to a special blended food diet fed through her feeding tube. Although she is still unable to eat orally, Kori says a new diet and physical therapy have helped Ava increase her muscle control and gain needed weight.

In addition to caring for Ava’s non-traditional diet, her parents are required to spend more time helping her develop her motor skills and handling complications that arise when she contracts a cold or virus, which affect Ava more than other children.

With these challenges to everyday routine, Kori says the support available through C.S. Mott Children’s Hospital has helped the entire family.

“It has been an important piece in allowing us to really embrace this new life.”

 

Tune in to Sports Talk 1050am WTKA on Friday, May 18  6a.m. to 6p.m. to hear the Jones’ story during the WTKA Takeover for Mott. The 12 hour radio-a-thon, featuring Mott patients, former U-M football players and coaches to raises funds for the Lloyd Carr Mountaintop Fund. Visit www.givetomott.org for more information. 

 

Learn more about the care offered by pediatric geneticists at C.S. Mott Children’s Hospital.

 


About Mott Children’s Hospital

University of Michigan C.S. Mott Children’s Hospital is consistently ranked one of the best hospitals in the country. It was nationally ranked in all ten pediatric specialties in U.S. News Media Group’s “America’s Best Children’s Hospitals,” including #3 in the country for heart and heart surgery. In November, the hospital moves to a new state-of-the-art facility that will be home to cutting-edge specialty services for newborns, children and women.