Williamsburg family promotes ‘tubie’ awareness

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

The 4^th-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.

“It’s not uncommon to struggle with feeding intolerance,” said Sullivan, who sees one or two children a year with similarly severe symptoms. “He has a hypersensitivity to having something in his stomach. It’s distressing to him. We don’t know what’s going on at the cellular level.”

It took the couple six months to get Adam in for an appointment at Nationwide Children’s Hospital in Ohio for more specialized testing that brought broad diagnoses of his stomach conditions. By then, the baby had also been diagnosed with microcephaly, indicating that his head and brain were not growing at the appropriate rate.

A model of organization, Katie maintains an inches-thick binder of Adam’s medical history. It’s divided into sections for the pediatrician, neurology, genetics, occupational therapy, ophthalmology, orthopedics and more.

“He’s become my life’s work now,” said Katie, 30, who holds a master’s degree in higher education and gave up her work as a college counselor at Thomas Nelson Community College to care for him. She has also put on hold her dream of becoming a dean.

Likewise, Aaron, 32, received a one-year delay in his Coast Guard orders to accommodate Adam’s needs. In February, the family learned that Aaron will be assigned to a Portsmouth-based cutter with rotating two-month coastal deployments.

“That way we can keep Adam’s doctors,” said Katie, and Aaron can gain the necessary sea experience for advancement and higher pay to offset the loss of her income.

Although they have not incurred major out-of-pocket medical expenses, they’re adapting to being a one-income family and Katie still has several thousand dollars to pay in graduate loans.

Coming to terms

Far from their extended family in Florida, the Marcerons struggled to cope at first.

“This time last year we were scared. For a long time we just sat in the house. I wasn’t ready to accept that my son had a brain disorder,” said Katie.

At the same time, Aaron was dealing with the dashed expectation that his son would be a “mini-me.”

“I grew up playing sports. I was supposed to teach him to play baseball and football. This is what I got,” he said, hoisting Adam playfully over his head.

“Once you finally accept it, you move on. He could be in the Special Olympics,” he added with a grin. Meanwhile, he keeps Adam beside him when he watches the Tampa Bay Buccaneers and ESPN highlights on TV.

For Adam’s mother, the turning point came a few months ago when she stumbled across the story, “Welcome to Holland,” a fable by Emily Perl Kingsley about adapting to life with a disabled child.

“It was inspirational,” said Katie, who soon after took on a part-time retail job to give her some time out of the house. It took Aaron a little longer to reach acceptance, and both readily concede that they still have bad days, grieving the loss of what might have been.

However, Adam’s special needs no longer stop the family from going out and sharing activities, though they resent the stares of strangers.

“You get angry a little bit,” said Aaron, sitting on the floor cradling his son.

Now they don’t hesitate to stash his feeding apparatus in a backpack and use a special stroller to go shopping, to the park, to restaurants and outings.

Though they qualify for respite care, neither is ready to leave their son in the care of anyone other than family. They’re even reluctant to allow friends to hold him. “He’s not the easiest baby,” said Katie.

“And you throw all of this in there,” added Aaron, indicating the special equipment — the feeding tube and IV pole, the burp cloths, and the heavily padded wheelchair-like stroller.

Feeding Adam

Adam’s needs are constant. Last April, after he failed to gain even an ounce in a month, he had surgery to place a G-tube (gastrostomy) in his stomach. He still spit up constantly, going through 100 burp cloths a day, according to Aaron. In May, using the same port, a GJ tube (gastrojejunal) was inserted to bypass the stomach and go directly to the intestines. He still throws up frequently, but unlike before, little comes up.

In October he started new, more effective medicines, and Sullivan, his gastroenterologist, has also administered a couple of Botox shots endoscopically.

Most often associated with cosmetic procedures for wrinkles, the toxins in Botox have a paralytic effect. In Adam’s case, it helps the passive emptying of his stomach, said Sullivan. The Marcerons rely on Sullivan not only for his medical expertise — they credit him with saving Adam’s life — but also his overall support.

“He has just gone above and beyond. He really cares and loves Adam,” they said of the doctor at Naval Medical Center Portsmouth.

In anticipation of eventually weaning Adam from a feeding tube, the family feeds him minuscule amounts by mouth.

“He eats like a new baby,” said Katie. “We practice every day to build skills.”

He likes pureed bananas and apple sauce but not vegetables, she added. His main nutrition from prescription baby formula is delivered at a little over an ounce an hour in a constant drip through the tube.

On a recent weekend, the pump malfunctioned overnight precipitating a crisis that resulted in a hospital visit for rehydration. Typically his pump has a 24-hour battery life. In anticipation of Hurricane Sandy last fall, the family purchased a power pack that can recharge the battery for another 24 hours of use.

Kaylee and the video

In “Amazing Adam’s Story,” the 4-minute video that follows Adam from birth through his health struggles, (http://www.youtube.com/watch?v=KfFBVoInqkw) Kaylee narrated in a strong, clear voice about her “cute little brother.” She told how he loves to watch TV — SpongeBob is his favorite — and play with musical toys.

She requested to show the video to her classmates.

“We were all on board. We were very touched that she shared such a personal experience. She’s an amazing little girl,” said Katie Gaylord, a school counselor at Waller Mill Elementary. “She’s an advocate.”

About the test

Exome sequencing, a new DNA analysis for diagnosing genetic disorders and mutations, became available commercially last year. Half a dozen companies across the United States offer the testing, which must be ordered through a health care provider. The sequencing of the 20,000 genes involved in protein production costs between $7,500 and $10,000. It takes six months to get the results, which are derived from a blood sample. It has a 97 percent success rate in pinpointing genetic changes. Genetic counselors advise that the test’s ability to detect a predisposition to certain health problems, such as Alzheimer’s, which currently has no cure, raises complex ethical issues.

Want to know more?

The volunteer organization Feeding Tube Awareness Foundation, a nonprofit founded in 2010, hosts a web site, http://www.feedingtubeawareness.org, for families and friends of “tubies” and promotes an annual awareness week. The foundation also has a Facebook page, Feeding Tube Awareness, where caregivers can find “real time” support and answers to questions.

More online

To see the video 9-year-old Katie Marceron made about her baby brother, Adam, go to http://www.dailypress.com or http://www.youtube.com/watch?v=KfFBVoInqkw.