Rare genetic disorder strikes Wesley Chapel twins

WESLEY CHAPEL

They spend their afternoons lying on air mattresses, watching cartoons, prisoners in their own bodies.

The Surut twins are 6 1/2 years old. While most of their peers play soccer, practice ballet and devour chicken nuggets, Sydney and Delaini can't walk or even hold up their heads. Breakfast, lunch and dinner are the same: formula from IV bags that connect to feeding tubes in their sides because they can't eat solid food.

"Most of my day is dealing with gagging, vomiting and choking," said their mother, Nancy Bruno, 41. She sometimes spends all night with a finger in a child's mouth to help keep the airway open.

The twins were born with a genetic disorder so rare that doctors know of only 70 cases in the world. Their brains lack an enzyme needed for the neurotransmitters to signal each other appropriately. As a result, their brains are unable to complete signals that instruct the body to move and function, even for tasks as simple as holding up the head or moving fingers. Functions such as eating and swallowing also are impaired.

People with the disorder also go into spasmodic attacks in which the eyeballs rotate upward. They usually happen late in the day and can last for hours.

Bruno said neither she nor her husband, Scott Surut, had heard of the disorder, called aromatic amino acid decarboxylase deficiency, or AADC for short. That's not surprising. Parents don't have to have the condition to pass along the faulty genes. And because the gene that causes it is recessive, both parents must be carriers. Even then the chance of having a child with AADC is 25 percent.

Nancy and Scott's first child, 9-year-old Donovan, was born healthy. So they had no concerns when they decided to try for a second child.

The twins appeared normal on ultrasounds. They were born six weeks premature, not uncommon with multiples.

That's why the feeding problems and failures to roll over or reach other milestones didn't raise eyebrows at first.

Several months later, they were on their way to specialists.

A geneticist couldn't tell them what was wrong.

It took a pediatric neurologist at All Children's Hospital in St. Petersburg to nail down the diagnosis.

"I try to read up on these rare conditions," said Dr. Joseph Casadonte, who ordered the spinal taps to test for the disorder. He said the twins, then 18 months, showed the classic symptoms of AADC: episodes that involve abnormal rotation of the eyeballs, muscle spasms and uncontrolled movements, especially of the head and neck. It's the only case he's run across in his more than 25 years of practice. A child from Ohio has moved into the area and is being treated but had been diagnosed elsewhere.

He said little research has been done on the disorder, probably because it's so rare.

"There's not been much of a groundswell for it," he said.

Casadonte said the few medications available have not worked well in girls. The first diagnosed case was twin boys from Dubai born in 1989. They are now 21. Some kids have died, however, mainly from complications.

Life expectancy is difficult for doctors to predict, partly because the disorder can vary in its severity. Casadonte said the Surut twins have a severe form.

"Their mother is amazing," he said.

That sentiment is echoed by everyone close to Bruno, from the home health nurses to the therapists who visit several times a week to her husband.

"I don't know how she does it," he said. Everything the girls need she is able to anticipate, even if it's changing their sleeping positions in the middle of the night.

The condition brought a lot of challenges. Nancy, who sold payroll services to small businesses, quit her job to care for the family full time. Scott, 48, sells health insurance. Donovan is home-schooled. Nurses come for 16 hours a day.

Nancy said she takes things a day at a time. The twins' needs are so great that she doesn't have time to focus on the what ifs or what the future holds, like how the girls will be lifted someday when they become too heavy for her to carry. "You do what you have to do," she said.

There are moments, though, when she thinks about what her kids will never do, when she sees a neighbor child out bouncing a ball or celebrating a home run. Her home runs are when her daughters can push a button on a toy or say a word or two. One day, as a nurse played a dice game with Delaini and rolled them for her, Delaini piped up and said, "I do it."

"It's different," Nancy said. The ultimate goal is to get the girls mobile enough to someday use a communication device or motorized wheelchair. Bruno organized a 3K walk on Saturday to raise money for AADC research. Researchers in Taiwan are beginning a $26,500 project to try to create a mouse with AADC to learn more about how it affects the brain.

Despite the profound disabilities, the girls bring joy. The disorder does not affect intelligence, so they are keenly aware of their surroundings. They know numbers and colors and work with a home-bound teacher from the school district. They squeal with delight when their father comes home from work. Sometimes they pretend to trip him with their legs when he walks by their mats. When a photographer points a camera at them, they can't stop smiling.

"They've changed my life tremendously," Scott said. "They're my little princesses."

Lisa Buie can be reached at buie@sptimes.com or (813) 909-4604.

FAST FACTS

If you go

What: 3K Walk for AADC Deficiency

When: 10 a.m., 11 a.m. and noon Saturday

Where: Sports & Field, 2029 Arrowgrass Drive, Wesley Chapel

For information: razoo.com/story/aadc

What AADC is

AADC is short for aromatic amino acid aecarboxylase deficiency. It is one of a group of rare pediatric neurotransmitter disorders. With this one, the brain lacks an enzyme needed for neurotransmitters to signal each other appropriately. As a result, the brain lacks the ability to complete signals that instruct the body to move and function, for even the simplest of tasks. Children with AADC deficiency suffer profound and life threatening disabilities.

Rare genetic disorder strikes Wesley Chapel twins 03/04/10 [Last modified: Thursday, March 4, 2010 10:10pm]

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