Early screening finds rare condition, helps family connect with USF Pediatrics and gives their newborn the best life ahead

With sun shining on her red curls, Annie called to her cat Meow from atop the perch of her backyard play set. Her mother Lindsay Baker stands next to her, holding her hand and guiding her as she climbs up the play set. Her grandmother Donna Sheppard looks on.

The scene is sweet, and hardly conveys the reality this family lives strictly monitoring Annie’s diet and policing her interaction with other people to reduce her risk of getting sick.

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Annie gives Meow a quick pet before heading out to the yard.

Annie is 3 years old and has glutaric acidemia type I (GA-I), an inherited metabolic disorder that won’t allow her body to process certain proteins properly. She has inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are the building blocks of protein. Excessive levels of these amino acids and the byproducts they produce can accumulate and cause damage to her brain, particularly the region that helps control movement.

The severity of GA-I varies from mild to severe. In most cases, signs and symptoms first occur in infancy or early childhood, but can first appear in adolescence or adulthood. While some babies are born with some of the more common signs of GA-I (unusually large head, difficulty moving, spasms, jerking, rigidity, decreased muscle tone), some do not yet show signs of trouble.

For Annie, there were no apparent signs of a problem when she was born. The only indication was found in her newborn screening. Annie, like all newborns, underwent screening for genetic metabolic disorders – with one pin prick, babies are screened for 36 genetic disorders, giving advanced notice to many families of conditions that might not appear obvious in the early days, or even years, after birth but will appear at some point and affect these children for the rest of their lives.

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Although interaction with lots of other children is limited, Annie plays hard like any other toddler.

Annie’s test came back indicating GA-I.

“At first, we weren’t sure what they meant,” Baker said. “She looked fine. But then we got a phone call telling us it was confirmed, we dove into researching GA-I and asking doctors tons of questions. We realized how thankful we are that nothing happened to Annie during childbirth or prior to her diagnosis. We never realized the risk and we are thankful everything went well for her.”

“It’s a day we’ll never forget,” Sheppard said, speaking of the day Annie’s diagnosis was confirmed.

But it was early screening that helped the Bakers know how important it was, and still is, to limit Annie’s protein. Not knowing would have been disastrous.

“GA-I can have significant neurologic implications, even life-threatening,” said Amarilis Sanchez-Valle, MD, assistant professor of pediatrics in the USF Health Morsani College of Medicine and the only board-certified medical biochemical geneticist in the region.

“Finding out early is the key to reducing complications later. Annie has avoided complications because we caught it early. Because of screening, her family knew to take careful steps in monitoring her protein consumption and to keep her well to avoid a life-threatening crisis.”

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How much more vulnerable is Annie with infections?

“Even a fever could cause a stroke in patients with GA-I,” Dr. Sanchez-Valle said.

When people get sick, Dr. Sanchez-Valle explained, their bodies release amino acids, the same three that Annie can’t break down. For Annie, getting sick means she must get to the hospital quickly to begin intravenous fluids, which helps her overcome the metabolic decompensation.

Needing that proximity to expert care is why the Bakers moved from their home in the middle of the state to one near downtown Tampa, the home of the USF Health South Tampa Center for Advanced Healthcare and Tampa General Hospital.

“We really needed to be closer to the USF team and Tampa General,” Baker said. “There is a strict protocol for when Annie gets sick and we have to act fast. If we hadn’t moved closer, we would have been an hour away. And that’s not ok.”

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Naming animals with Mom.

From the beginning, the Bakers have worked closely with the team in the USF Health Metabolic Genetics Clinic, including Donna O’Steen, MS, RD, CSP, CNSC, a metabolic dietitian, who offered the Bakers day-to-day advice on Annie’s diet and still helps the family as they make adjustments as Annie grows.

“They followed the guidelines completely and were able to get on track early for Annie,” O’Steen said. “Babies live much better lives in that first year if families are adamant about monitoring protein consumption.”

The effort continues for the Bakers. Even at age 3, Annie takes a specialized formula, one that requires careful measurement to ensure she gets the correct amount of amino acids. The daily measuring of powdered formula and mixing it with distilled water is part of the family routine.

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Exact measurements are required to make sure Annie gets the right amount of amino acids.

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The other half of the equation is keeping Annie well. The entire family knows of her condition, even her six young boy cousins, Baker said.

“They’re always watching out for her and they know to ask if she can have certain foods before letting her have anything,” Baker said.

Beyond family, there is limited interaction with other children for Annie. There is no day care. But she’s not locked in a bubble either, like some parents might do as they panic about exposing a child to germs. Annie plays in the yard, pets her cat and hugs on her generous and loving family.  Annie is now in dance classes.

“We stay in a lot more because sickness is so serious for her,” Baker said. “It’s hard, very hard. We have a really good support system, and my husband is great about letting me take time for myself. That’s my advice to other families, have a support system to give you strength.”

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As Annie grows, she will learn why her diet is so rigidly monitored. She will learn to do her own measuring of foods. And she will learn to take seemingly extreme measures to avoid getting sick. As she ages, her risk of having a crisis goes down a bit but she will always need to protect her brain through life-long monitoring.

In her three years, she has met all her milestones, starting physical therapy and speech therapy. She has improved greatly and doesn’t really know any different. She is a happy, funny 3-year-old.

Annie keeps her mom and grandmother laughing.

Annie keeps her mom and grandmother laughing.

Baker is emphatic in her thanks for USF Health.

“I’ve never had a relationship with doctors like we have with Dr. Sanchez-Valle and Donna,” she said.

“They have helped us so much. And by being so careful now, she has a greater chance of living a normal childhood and life later. That’s our goal – that’s what we want for her.”

Photos by Rebecca Hagen.