Williamsburg family promotes 'tubie' awareness

Kaylee squealed with barely contained delight as images of her brother, Adam, flashed on the TV screen.

The 4th-grader and her mother, Katie Marceron, collaborated on the video, "Amazing Adam's Story," to show her class at Waller Mill Elementary, a York County arts magnet school in Williamsburg. As the grinning 9-year-old watched her handiwork — she narrated and helped pick the photos and choose the music, "Firework" by Katy Perry — she sat on the sofa with her arm slung around Adam with easy, loving familiarity.

At 15 months, Adam weighs a solid 21-1/2 pounds. Developmentally, however, he's around 3 months, his mother said. His head wobbles a little, he's only recently learned to smile and for 20 hours out of every 24 he's tethered to a feeding tube that snakes out of his belly to an IV pole holding a bag of prescription formula.

The video had a dual purpose: To promote awareness of "tubies," children dependent on feeding tubes, and for the family to celebrate how far they've come in the year since Adam received a trio of devastating, but inconclusive, diagnoses at 3 months old.

Looking for answers

Pegged as having microcephaly, a brain disorder, as well as neuropathic dysmotility and visceral hyperalgesia, stomach issues that prevent him from retaining food and absorbing nutrition, Adam's prognosis is unknown.

"There's something wrong with the way the stomach and small intestine coordinate. There's no name for it or recognizable syndrome. He does have an underlying central nervous system problem," said Sean Sullivan, a pediatric gastroenterologist at Naval Medical Center Portsmouth. "We have a broad diagnosis, but not a refined one."

That could change in April when the results of Adam's exome sequencing — a newly available DNA analysis — are released.

Exome sequencing, which became commercially available last year, examines "only the important 2 percent," or about 20,000 genes that make protein, rather than the entire genome, according to Beth Chisholm, senior genetic counselor at Children's Hospital of the King's Daughters in Norfolk. It should reveal any gene variations that are causing Adam's developmental delays.

Adam, whom Chisholm described as "a very complicated patient," is the first for whom CHKD ordered the test.

To date, every other genetic test has come back normal. The exome sequencing, which will compare Adam's genetic information to his clinical history, has a 97 percent chance of providing doctors with clues to treatment and giving his parents hope.

"It's not like we can go in and change it. It's fixed, but it can help us put a name on it so we know what to expect going forward, and so we can provide Adam the best treatment," said Chisholm. It's also important for family planning purposes, she added.

Results from the blood test take six months to process and could also reveal additional unwelcome information, such as a predisposition to Alzheimer's or cancer.

"We may find other problems we're not expecting," said Chisholm, who cautioned that for those reasons the testing is not for everyone and should only be accompanied by counseling. "It's a very exciting technology, but it needs to be done with a lot of caution. It's not ready for prime time," she emphasized.

The test costs between $7,500 and $10,000 and is covered by some insurance plans and not others.

For Adam and his parents, who gave samples for comparison to determine a hereditary component, CHKD chose GeneDx in Maryland for its coverage of TRICARE patients. It's one of half a dozen companies nationwide that now provide exome sequencing.

Healthy at birth

Born in October 2011 after an unremarkable pregnancy and delivery, the 7 pound 9-ounce Adam passed the Apgar tests — five measures administered to all newborns to test reflex, pulse, muscle tone, breathing and complexion — with flying colors. It was his persistent inability to hold down milk that worried his parents and earned him a "failure to thrive" label at 2 months old.

He was duly referred to a GI specialist. His father, Aaron, is a Petty Officer First Class with the Coast Guard in Yorktown, so the couple called Naval Medical Center Portsmouth. Told there would be a three- to four-month wait for an appointment, Katie lost her cool. She knew her son would not survive the extended wait. He was, in effect, starving, she said.

Over the phone, she got the attention of a nurse who prevailed on the director of the pediatric gasterointestinal clinic to see Adam the following week. Once seen, he was admitted immediately and spent five days in the hospital on a gastric nasal tube. Still, every test came back normal.