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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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Cristina scoured the Internet for case studies and clinical trials, sharing what she learned in her own blog.

"It [is] difficult feeling so alone, so un-Googleable," she wrote in January 2009. "It has become my personal mission in life to make search terms like ‘jiggly baby’ result in at least some medically helpful information other than the annoying YouTube videos."

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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‘Baby’ bucket list • The first big clinical discovery came shortly after Bertrand’s first birthday: oligosaccharides, or chains of simple sugars, were in his urine. This suggested he had a glycoprotein-storage disease, typically caused by the body’s inability to produce an enzyme.

Bertrand’s cells were unable to recycle waste, which was building up in his cells and destroying them.

This explained his new seizures and why he was symptom-free at birth, since it takes time for waste to build up.

But the finding was a death sentence. He would live another year, maybe two.

Every type of therapy had failed to awaken Bertrand, to stop his decline. Cognitively, Bertrand, who is now nearly 5, is 8 months old.

Cristina had been hoping to find time to make new friends in Utah. Instead, she cleared her calendar for a "baby" bucket list: trips to the zoo, a farm, a beach and horseback riding.

"Screw new friends. I don’t need them. Bertrand’s my BFF," she wrote in March 2009. "Bertrand is going to have the best next 21 months that any baby has ever had!"

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The Mights briefly pursued a bone marrow transplant from expert Joanne Kurtberg at Duke University, hoping a donor’s cells would produce Bertrand’s unknown missing enzyme — the only known treatment for disorders like his.

But a scan showed his brain was losing white matter, the networking structure that allows nerve cells to communicate. It was too late. He was unlikely to survive the procedure.

On May 15, 2009, they closed Bertrand’s college account.

"We’ve come to accept that he’s never going to attend college, even if he survives long enough," Matthew wrote on Cristina’s blog.

Using the savings for medical expenses, they focused on treating his epilepsy and preserving his quality of life. A high-fat diet with twice-daily hormone injections eliminated Bertrand’s seizures, but the hormones put him in a rage, doubled his size and stripped away his immune system. After his second birthday, he nearly died from a respiratory infection.

But in the hospital, Bertrand laughed for the first time.

"It was the most direct sign of [his] humanity we had ever seen," wrote Matthew on his blog.

Bertrand recovered and surprised his therapists with his attempts to sit up and crawl.

Matthew was still stalking a diagnosis, to better care for Bertrand and to consider as they began thinking about having another child. Pursuing a last-ditch idea — sequencing the entire family’s genome to search for Bertrand’s genetic glitch — he wrangled a dinner in 2010 with U. geneticist Lynn Jorde.

Sequencing is still fraught with errors, Jorde said in an interview. Everyone has thousands of mutations, some helpful, others benign and some harmful.

"If we analyzed your DNA and you have Type 2 diabetes, you would have 10,000 variants," Jorde said, "and any single one could be the cause of your diabetes."

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