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Seven years old and slightly built, Tristan Hume doesn’t look the part of a patient with a cholesterol-related illness.

In October 2012, he was diagnosed with cholesteryl ester storage disease, a rare, recessive genetic disorder that affects the breakdown of cholesterol in the body. An enzyme deficiency had caused a buildup of cholesterol in Tristan’s liver.

“At the beginning, it looked like he swallowed a soccer ball,” said Dr. Richard W. Erbe, chief of the Division of Genetics at Women & Children’s Hospital of Buffalo.

Tristan’s condition is being treated with enzyme replacement therapy, delivered intravenously, twice a month at Children’s. It must continue for the rest of his life.

The journey began two years ago for Tristan, who lives in North Tonawanda with his parents, Holly and Steve, and two younger siblings.

“We took him to the pediatrician because he always had a larger abdomen,” his mother said. He also had been suffering from constipation.

The pediatrician referred the Humes to a gastroenterologist. They later were referred to Erbe, with countless tests and a liver biopsy performed along the way.

Erbe said he was able to prove his diagnosis with the help of a Massachusetts company that had been working on an enzyme replacement treatment for the disorder.

The genetic disorder that Tristan has comes in several forms, including Wolman disease, which destroys the adrenal glands of infants, who don’t survive more than a couple of years. In other cases, it shows up in people in their 40s, 50s and 60s who have enlarged livers and elevated cholesterol levels but aren’t obese.

Last July, Tristan joined a clinical trial for an enzyme replacement therapy. Though it was a double-blind study, meaning there was no way to know whether Tristan was receiving a placebo or the real thing, changes were noticeable within weeks.

“It was pretty clear his liver was getting smaller; you could really see the difference,” Erbe said. “The enzyme made this cholesterol storage go away.”

“We are trying to find those non-obese kids with elevated cholesterol that might be like Tristan,” Erbe said.

Erbe believes the disorder should be included in newborn screening.

Tristan and his parents head down to Women & Children’s Hospital every other week for treatment. He also gets an MRI every 12 weeks.

“They have been extremely helpful and so good with the IVs,” his mother said. “I know he’s not the greatest getting them in. Those nurses are fantastic.”

Like many children, Tristan is not a fan of needles.

“When they’re coming in, it hurts,” he said. “It takes forever to get it in.”

But the tradeoff is that Tristan is able to enjoy life like other 7-year-old boys.

Earlier this month, he was sporting a bandaged right hand, the result of a fence-climbing accident. “When I climbed over it, my hand got stuck,” he explained.

A second-grade student at the North Tonawanda Learning Center, Tristan said he also likes to ride his bike, scooters and four-wheelers.

Through the diagnostic process, it was learned that both of Tristan’s parents are carriers of the mutated gene, but neither has had symptoms. Tristan is affected because he has a pair of mutations, one inherited from each of this parents.

Tests on the couple’s younger children, Kayla, 4, and Wyatt, 21 months, came back negative.

Statistics show that one in four children will develop the disease with available carriers.

“They say one in four. We have one in three,” said Steve Hume.

Should Tristan father children eventually, he will pass along one mutation to each child, and they will be carriers but will not have the disorder, Erbe said.

“It’s really good news all the way around,” the doctor said.

email: jhabuda@buffnews.com