Article in "The Daily Chronicle"

Tyson Gibb | The Daily Utah Chronicle

Bertrand Might, a 4-year-old with a rare genetic disease, plays with a toy that reads the alphabet out loud when spun. Ensign Elementary, where he attends special education preschool, held a “Wear Jeans for Genes” event to raise funds for The Eccles Institute of Human Genetics.

Rare Disease Day

by: Tyson Gibb on March 1, 2012

Bertrand Might is a 4-year-old in Salt Lake City who has a genetic disease with no name. He is the only child in the medical literature diagnosed with his unique genetic mutations, said his mother, Cristina Might. He has white matter involvement, a movement disorder, a multifocal seizure disorder and ongoing liver damage.

“For Bertrand, it’s a daily battle,” said Connie Cantrell, a speech and language pathologist for special education preschool at Ensign Elementary School. “There are times where breathing is the most important thing. He’s working on learning to walk — he’s working on learning everything that we take for granted. Everything that people do on a daily basis, for him, is work. Eating for him is a challenge.”

Wednesday, on the rarest day of the year — leap day — the school held “Wear Jeans for Genes,” an event that recognized rare diseases and raised funds for the U’s Eccles Institute of Human Genetics’ new genome-sequencing facility. Students at the school wore denim jeans and presented Bertrand Might with a paper chain with loving messages on each link.

The support of others is incredibly important, Cristina Might said, because the disease and constant hospitalization can be an alienating experience for her son.

“But he’s more than the sum of his parts,” Cristina Might said. “At the end of the day, he’s a kid like any other.”

He has been through a lot in four years, she said, estimating that by age 2 he had racked up more than $100,000 of medical expenses just for genetic testing. “Bertrand has had a liver biopsy, a skin biopsy, muscle biopsy, and, by age 3, most of his veins in his body had scarred over, and physicians had resorted to drawing blood from his head because they had drawn so much blood trying to test,” she said.

With a new genetic sequencer at the U, this painful series of tests could be reduced to a single blood draw, she said. “We would get the results a lot sooner than four years of agony and waiting and not knowing,” Cristina Might said.

Utah is renowned for its work in genealogy, which has helped drive students into the field of genetic sequencing. The human genetics institute is a leading institution in researching the human genome and various mutations that might be transmitted to children through their parents.

The research the institution does on any child can translate into treatments for many unrelated diseases, and every genome that is sequenced helps future specialists categorize and compare genetic information.

“Even though it might help this one disease, it might also help other cases that have this enzyme problem, maybe Alzheimer’s or Parkinson’s or things that are more widespread,” Cristina Might said.

As computational power grows exponentially, geneticists are able to sequence genomes cheaper, faster and more accurately.

Cantrell indirectly benefited from research done on immune systems during the AIDS boom of the ’90s, when genetic sequencing took significantly longer.

Her son has Wiskott-Aldrich syndrome, a rare genetic disease that is passed through the X chromosome. “I was lucky in that when my son was diagnosed, his syndrome had been isolated six months prior to diagnosis,” Cantrell said.

She stressed the importance of spreading information about rare diseases.

“You’ve got to have someone interested in doing genetics research and doing the studies in order to finance it,” she said. “So the more information you can spread, it might spark interest in somebody. A med student may go, ‘Hey, that’s what I want to look into.’ ”

One in 10 Americans, like Bertrand Might, suffer from a disease that affects fewer than 200,000 people in the United States, according to the National Organization of Rare Diseases. Innovations in genetics research can help bring researchers a step closer to more efficient treatment for him and others suffering from rare diseases.