Dogged SLC parents are hopeful science can help their 4-year-old boy, diagnosed with a unique, deadly health condition.

By kirsten Stewart

| The Salt Lake Tribune

"I should clarify one point: my son is very much alive," begins the May 29 entry. "Yet, my wife Cristina and I have been found responsible for his death."

Bertrand Might is the unlucky inheritor of two recessive genes that stop his body from making an enzyme critical to building his brain and nervous system.

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At a glance

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By the numbers

22,000 » Each person’s number of genes, which make up his or her DNA, the genetic blueprint for human life.

More than 3 billion » The number of “base pairs” that determine genetic makeup.

$3,000 » Cost to sequence a family’s exome, 2 percent of each member’s DNA.

$20,000 » What one family in the Duke study that diagnosed Bertrand spent on dead-end diagnostic tests.

$75,661 » Four years of the Mights’ out-of-pocket health expenses.

$3 billion » Cost of the Human Genome Project, begun in 1990 and completed in 2003.

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Help find a cure

To donate to the Bertrand Might Research Fund at Sanford Burnham, go to: http://bit.ly/QbCUDO

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He was the first human, 1 of 7 billion, found to lack the enzyme. The chances of both parents having the mutation and passing it to their son: 1 in 4 million. Before recent advances in genetics, researchers faced similar odds in finding it.

But find it they did. And it’s just the beginning. Now that the Mights know their son’s killer, they’re chasing a treatment or cure.

"This is a story," wrote Matthew, "about the kind of hope that only science can provide."

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‘Somber boundary’ • Conceived while the Mights were finishing graduate school at Georgia Tech, Bertrand was born jaundiced but healthy in December 2007. He was the family’s first grandchild, a serious boy who they imagined was brooding on big ideas.

Matthew set up a college savings fund, joking how he was a liberal parent who "didn’t care in which field Bertrand earned his Ph.D."

But at six months, Bertrand, affectionately known as "Buddy," wasn’t smiling and his movements were jerky and irregular — "jiggly," as the Mights describe it. His only controlled motion was to wring his hands like Dr. Evil, said Cristina. "It was cute, endearing, but worrisome."

The Mights feared he may have autism.

They moved to Salt Lake City, where Matthew joined the computer science faculty at the University of Utah, and took Bertrand to a developmental pediatrician who guessed he had brain damage, possibly from the jaundice.

"I remember walking home from a faculty retreat thinking, ‘Oh my God, what did we do?’ ... It was a really awful feeling," said Matthew.

An MRI, however, showed Bertrand’s brain was normal.

Cristina, who had just earned her MBA, abandoned her plans to help Matthew with a software start-up. Instead, they launched what they called "Operation Diagnose Bertrand," a whirlwind of blood tests, biopsies and MRI, CT and EEG scans.

With every disorder crossed out came a cascade of others — most of them degenerative and fatal.

Bertrand’s feet, fingers and forearms became so scarred, nurses looked for veins in his head and shoulders, Cristina recalls. And he was losing ground, his ability to sit up and roll over.

Driving Bertrand home from a doctor’s appointment one day, Cristina almost crashed. She remembers despairing, "Maybe it would have been better if we had died. I was totally burned out. I couldn’t be happy. I couldn’t be sad. It was just a numbness that took over."

Doctors came to suspect Bertrand had a recessive disorder caused by two mutant copies of the same gene, one from each parent. In such cases the parents are usually distant cousins.

But Matthew is of Northern European descent, and Cristina’s family is Puerto Rican. And the small number of genetic screens available for recessive disorders came back negative.

At 10 months, Bertrand had landed in what Matthew calls "the empty set," a mathematical term for the unknown.

"There’s a boundary that many parents of children with rare disorders cross, a point at which you’ve ruled out all diagnosable illnesses," he said. "It’s a somber boundary."

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