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Baby with rare condition fighting to beat the odds

Helen Adams | MUSC News Center | Feb. 2, 2015

Photos by Sarah Pack
Mia Dieffenderfer's parents were afraid she'd only live for a few hours. Three weeks later, they have new hope - and so do Mia's doctors. 

At almost 3 weeks old, Mia Dieffenderfer has already outlived her life expectancy. Her parents, Kristin and Brian Dieffenderfer of Summerville, are thrilled. They are spending as much time as possible in the Neonatal Intensive Care Unit in the Children’s Hospital at the Medical University of South Carolina, watching their tiny daughter fight to stay alive. She has a condition called bilateral renal agenesis, which means her kidneys never developed. Her parents didn’t expect her to survive for more than a few hours after she was born January 14.

“I came back to the room after my C-section and I said, ‘Take me up there.’ I didn’t have any pain meds for the first two days,” Kristin said. She wanted to see her daughter clearly and have that memory. 

Kristin and Brian Dieffenderfer string beads representing milestones for Mia through MUSC's Beads of Courage program. 

Mia made it through that first night with the help of the NICU team. They supported her lungs and made her as comfortable as possible with a radiant warmer.

But the doctors told Mia’s parents that her vital statistics were unstable. The Dieffenderfers stayed with her, not wanting to miss a moment of her life. Two more days passed.

Then, something remarkable happened. “They pulled us in and said against all odds, she has done something quite incredible,” Brian said. She survived. 

“They told us they were going to put in the catheter to start dialysis, even though she hadn’t made the weight requirement. They were willing to take a chance because she had made so much progress.”

Mia has bilateral renal agenesis, which means her kidneys failed to develop. 

It was an amazing development for parents who had known for months that Mia had a condition that is considered fatal. 

They knew early in the pregnancy that something was wrong. Doctors said Mia was very small and miscarriage was likely. She was also losing amniotic fluid. They eventually determined that Mia was missing her kidneys. Kristin got amnioinfusions to put saline in the amniotic sac and got a bit of good news: Mia’s lungs were doing better than expected. They continued to get the infusions at MUSC, a delicate procedure, from Eugene Chang, M.D.

Brian wrote about the experience on the website, which connects people to family and friends with health issues. He said, “We love, love, love our doctors here at MUSC for the courage to do something that is so incredibly invasive and so against common practice (and by common, I mean it just doesn't happen, ever).

Neonatologist John "Jersey" Cahill talks with visitors about Mia's remarkable progress.  

He continued, “For several months, Kristin had to have a huge needle poked through her abdomen and into her uterus to get Mia the fluid that would hopefully save her life by helping her lungs develop.”

About eight months into the pregnancy, they learned Mia’s growth rate was lower than hoped for. She weighed less than 2 pounds, and she’d need to weigh more than twice that for dialysis.

Now, after her birth and incredible fight to live, Mia’s parents have new hope. So do Mia’s doctors. John “Jersey” Cahill, M.D., and David Annibale, M.D., neonatologists at MUSC, said the new plan is to get her to grow to an appropriate weight, then list Mia very early for an infant to 1-year-old transplant

“Every day offers another opportunity to get better,” Cahill said. “Every day offers another set of risks. It’s more than a series of numbers and diseases. We take care of people,” he said.

MUSC has one of five regional perinatal NICU’s in South Carolina. The specialists there help newborns such as Mia who need the highest level of treatment. MUSC’s NICU team includes neonatologists, specially trained neonatal nurses and nurse practitioners, respiratory therapists, radiologists, transport specialists, physical therapists, occupational therapists, speech therapists, clinical pharmacists, nutritionists, educators and social workers.

Mia’s condition, bilateral renal agenesis, is rare. Only one in about 3,000 children (less than 1 percent) is born with it, according to the nonprofit March of Dimes organization. Normally, a baby’s kidneys develop between the fifth and 12th week of pregnancy, but that fails to happen in babies with Mia’s condition. Babies with the disorder usually have specific physical characteristics, including large, low-set ears and other unusual features. Mia does not appear to have those problems.

The cause of bilateral renal agenesis is unclear. In 20 to 36 percent of cases, there’s a genetic link, but usually there is no family history of the problem.

The Dieffenderfers said they’re realistic about Mia’s chances but also hopeful. They’ve been researching the case of a daughter with bilateral renal agenesis born to Congresswoman Jaime Herrera Beutler of Washington state. The little girl survived and went home from the hospital in December when she was about 6 months old. That gives the Summerville couple hope.

“I want other mothers to know to fight to get the treatment. Do whatever you have to do, because now she’s here with us,” Kristin said.

Brian agreed. “We thought every second was the last second. It wasn’t. It’s going to be a long road, but she’s a fighter. It’s so worth it.”




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