Little boy spirit

MONAHANS Benjamin Holly’s cute, so cute it’s hard to tell he has a disease.

He’ll give a thumbs up upon request. He’ll wave goodbye. He’ll smile showing off his jagged little boy smile, and he’ll answer almost every question with an excited ‘yeah’ and an approving nod.

Does he like his older sisters and brother?

“Yeah.”

Does he love his daddy?

“Yeah.”

Does he like his oldest sisters’ volleyball matches?

“Yeah.”

Charming. Three-year-old charming with his floppy blond hair parted right to left, puffy cheeks and dimples. He looks and acts like a little boy in his little boy jeans and playing with his little boy toys that he names after his five sisters and one brother.

“Is that Shayli?” his mother, Keli Holly, asks.

“Yeah, Sha-sha,” he said.

He’ll buzz around his living room in Monahans playfully throwing a small volleyball. He just buzzes a little slower and not as long as other little boys because his muscles tone is deficient. His heart is vulnerable, and his stamina burns out.

“To look at him I don’t think anybody would know he has a problem,” his grandmother Deloris Johnson said.

Benjamin isn’t the same as other boys, and his brother Caleb — who died 14 months before Benjamin was born — wasn’t either. He’s a Barth Syndrome boy, afflicted with a rare genetic disease that affects his heart’s strength and saps his muscles of energy.

About 100 boys in the world are known to be afflicted, and there are four in Texas. The disease was first discovered in 1983, and most of the oldest diagnosed boys are just entering their 20s. With proper diagnosis they can live, doctors believe, taking heart medications normally associated with adults.

With six healthy siblings, including one boy, Josh, Keli and Greg Holly were unaware that Keli, who carries the recessive gene, had a 50 percent chance of passing Barth Syndrome on to her boys. Josh, after all, was healthy and almost 10.

If never diagnosed with the syndrome, which happens frequently because the disease is so rare, about 90 percent of Barth boys die before age 2. Caleb died in October 2003.

Metabolic disease, the doctors said, which is normally genetic. Cardiomyopathy, they said. An enlarged heart that doesn’t pump normally, they told Keli and Greg Holly, who’s the Ward County judge.

Weeks at hospitals across the state searching for survival, and Caleb’s life ended in Lubbock after 14 months.

Why, his parents asked.

Hmmm, the answer wasn’t easy. No known family history of heart problems. An autopsy didn’t reveal it. Tissue tested in Denver and Baltimore didn’t reveal it.

For months, the answer didn’t come.

They were devastated with Caleb’s death but rallied for answers because, as Keli said, she had six other children to worry about and what if they had the disease. Then they had another child to worry about. Keli was pregnant again with Benjamin.

Keli was determined to find an answer.

She spent countless hours on the Internet researching. She Googled his symptoms. She researched all the big Latin root words used in medical explanations to make sure she understood what she was reading.

She narrowed it to 56 diseases. She’d wake up in the middle of the night and search more for an answer.

“Basically, it became an obsession,” she said.

The more she searched, the more she believed it was Barth Syndrome. Tissue was sent to New York for a test and came back positive for Barth Syndrome.

Later, an amniocentesis revealed Benjamin had the disease as well.

There was anxiety about the what-ifs while the family still dealt with the what-could-have-beens with Caleb, Judge Holly said. Judge Holly is a minister in the Church of Christ and still preaches from time to time at the local church. The family is full of faith. Keli Holly said she was at peace through prayer after Benjamin became the first Barth boy diagnosed in utero. She felt like it was going to be OK.

“I think there was just a lot of preparation there,” said Johnson, Keli’s mother who also lost a boy to Barth Syndrome but only found that out after the family was diagnosed with the genetic disorder.

“She contacted pediatricians, and she really wanted to know what she could do as a mother carrying this baby to take care of him and make him as normal as he can be,” she said.

With the early diagnosis and continued treatment, Benjamin hasn’t been to the doctor since May. Twice a day, he takes heart medications Digoxin and Captopril, but he hops around the Holly home as much as he can.

If Keli Holly didn’t steadfastly pursue an answer as much as she did, Judge Holly believes the family would have gone through another death.

The family misses Caleb. And Benjamin brings joy with each jump from couch to couch, Keli said.

They’re thankful for him.

“A salve to the heart,” she said.