September 15, 2011

Personalized approach eases infant’s rare disease

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Amanda Bawcom, MSN, R.N., examines Darscia Mdoumbe, held by her mother, Aliscia Caldwell, during a visit to the Pediatric Genetics Clinic. (photo by Anne Rayner)

Personalized approach eases infant’s rare disease

A curious Darscia Mdoumbe, 10 months old, grabs at a stethoscope, smiling when she finally reaches it and attempts to put it in her mouth.

By all appearances, Darscia is no different from other infants her age. A little smaller, but she is otherwise a happy, healthy baby. “What’s not to love,” her t-shirt reads.

But two months earlier, what her mother thought was a pesky virus turned out to be a rare genetic disease, tyrosinemia, a disorder characterized by buildup of an amino acid, tyrosine.

The disease can damage the liver, kidneys and tissue and create serious medical problems. It affects only one in 100,000 people.

Darscia landed in the Emergency Department at the Monroe Carell Jr. Children's Hospital at Vanderbilt with a high fever and distended belly.

After a series of tests, she was diagnosed with tyrosinemia. Since, she has been cared for by a team of doctors and nurses who personalized the care to fit her delicate needs. Her health has improved and she is growing.

“Each member of the team represents a different specialty or area of expertise in order to provide the very best care for the patient,” said Amanda Bawcom, MSN, R.N., a nurse in the Department of Genetics and Genomic Medicine. “In genetics, we are familiar with managing complex disorders, but the GI team, for example, has the expertise to treat Darscia’s liver damage.”

Darscia’s team includes her pediatrician, a nutritionist, geneticists, a gastroenterologist and a liver specialist. Bawcom works alongside John Philips, M.D., director of the Division of Medical Genetics and Genomic Medicine, to care for her, and they communicate across specialties.

Aliscia Caldwell works with a coordinated team of Vanderbilt experts to manage the condition of her daughter, Darscia Mdoumbe. (photo by Anne Rayner)

Aliscia Caldwell works with a coordinated team of Vanderbilt experts to manage the condition of her daughter, Darscia Mdoumbe. (photo by Anne Rayner)

In infants, tyrosinemia presents with liver dysfunction and renal tubular disorder that cause failure to thrive and rickets. Currently, only one drug, NTBC, is approved to control the levels of tyrosine in the body. That makes managing Darscia’s disease more challenging. The team has to work together to manage nutrition, medication levels and monitor her organs.

Before NTBC, the average survival age was younger than 10.

Tennessee’s mandatory newborn screenings test for tyrosinemia. Darscia’s levels were not high enough to be detected. In March, the state added a second test for the disorder that could offer earlier detection and diagnosis of the disease. Infants inherit tyrosinemia when both parents are carriers of the genes.

Darscia’s mother, Aliscia Caldwell, wished a more sensitive test existed when her daughter was born. “I was sad and crying. I couldn’t believe she had this. My little boy didn’t have it and it didn’t run in my family.”

On a recent visit, the nutritionist, Gina Wey, R.D., L.D.N., reviewed Darscia’s eating diary with her mother. Darscia must be a vegetarian because too much protein can cause tyrosine levels to rise. She also drinks a special formula to help her grow.

Tyrosinemia is a lifelong disorder. If her disorder wasn’t caught early enough to prevent serious liver damage, she could need a liver transplant.

After checking Darscia’s vitals and examining her liver size, Bawcom, Phillips and Wey turn their attention to Caldwell to offer assistance or answers.

“I’m getting used it. The routine is different than before she was diagnosed,” said Caldwell, staring at Darscia as she nibbles on a graham cracker. “She’s definitely a happy baby.”