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Utah couple races to help son with unique genetic disorder

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

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Being a mom means believing the crippled will stand, the mute will speak and the blind will see, he said. "It is about exerting a force of will so strong that, even if for only the briefest of moments, the line between the possible and the impossible bends. It is about exerting that force for so long and with such intensity that, in rare circumstances, that line breaks."

At a glance

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.

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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‘You’re the Columbus’ • On May 29, he wrote his blog post trumpeting the unmasking of Bertrand’s assassin.

It was like "a social media nuclear bomb went off," Matthew said. It shot to the top of Hacker, Reddit and Gizmodo and other sites and was being retweeted at a rate of every two to three seconds.

In 48 hours it had drawn more than a million views.

"The result," Matthew said, "was an avalanche of information coming back at us from anyone who knew anything about glycobiology or exome sequencing."

Cristina found a synthesized form of N-glycanase, patented by Genzyme. It’s been used in labs for two decades and costs very little, but it has not be cleared for use in humans.

Getting federal approval to try it as a treatment would take Genzyme’s cooperation; the first step would be to test its impact on Bertrand’s cells.

Freeze was willing to do it, but his lab at the California-based medical research institute, Sanford-Burnham, didn’t have the staffing or funding. The tab for hiring their own postdoctoral researcher to do the work: about $120,000.

Thanks in part to their blogging, the Mights swiftly raised the money.

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Freeze’s study of glycans is arcane, even among biologists. Glycans are sugar chains that stick to proteins, sticky molecules that tell cells how to develop into the brain, the nervous system and other major organs. Freeze explores how they are made and what happens when the process goes awry.

In August, the Mights flew to Freeze’s lab for their first visit. "We just want them to meet Bertrand to know that he’s more than a case number, that there’s a name and face behind those cells," Cristina said the night before their flight.

Bertrand’s missing enzyme, Freeze explained in an interview, appears to "strip off sugar chains from proteins that the body needs to throw away because they’re not folded right or assembled the way they should have been."

But Bertrand can’t get rid of such proteins, because they won’t fit in a cell’s "mulcher," Freeze said. "It’s like trying to fit an entire tree in a mulcher. The sugar chains are like bulky branches and flop all over the place."

Injecting a synthesized form of N-glycanase into Bertrand’s cells isn’t working. There’s still hope experimental gene therapies — small compounds that read through, or patch over, damaged DNA — will work. And Bertrand’s body appears to have some ability to discard the proteins and there might be ways to enhance that.

"We may benefit as scientists as much as we are able to help him," acknowledges Freeze. "When you’re writing your own book, as he’s doing, you’re the Columbus. You’re going to take people where they‘ve never been before, to new insights and new ideas, and whether they like it or not, to some dead ends."

Armed with Freeze’s explanation of the type of stress on Bertrand’s cells, Cristina is trying antioxidants, including alpha lipoic acid and medical-grade curcumin.

"My son smells like curry," said Cristina. "But he seems happier. His seizures seem reduced. He’s sleeping better."

‘A kind of peace’ • The Mights are trying to connect with a family in Turkey, recently found by doctors at Yale University to have two children with N-glycanase deficiency. Their son, with symptoms almost identical to Bertrand’s, died at age 8. His sister is still well. Doctors at Yale are legally barred from disclosing their identities.

Bertrand is now almost 5. As he headed to preschool on a recent afternoon, Victoria scaled his wheelchair and sat astride his lap for the ride to his school bus.

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