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Bertrand's story: Finding causes, cures for rare diseases with precision medicine

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(KUTV) A Utah family is leading the way in precision medicine, or research that "takes into account individual variability in environment, lifestyle and genes for each person," with help from the University of Utah and the White House.

Mathew and Cristina Might of Salt Lake City would not take no for an answer when their first born son started having unexplained seizures. Because they persisted, their now 9-year-old boy has a name to his rare disease and hope for a brighter future.

Bertrand Might, 9, was diagnosed with NGLY1, a genetic mutation. The U.S. Department of Health and Human Services defines the NGLY1 gene as one that can lead to "intellectual disability, corneal opacities, and neuropathy."

He is, at last count, one of 57 known patients. He, however, was the first to be diagnosed, according to his parents.

Bertrand’s parents fought for answers, defied the odds and are now fighting to give hope to 30 million other American families dealing with rare diseases. This is their story.

BERTRAND’S STORY

On any given afternoon, Bertrand Might can be found playing on the floor of his Salt Lake City home, not far from the U of U campus. He is the oldest of three children in his family, and he can often be found playing with them or watching his favorite cartoons. He has a giant white cat that loves to sleep with him. He also has big beautiful eyes and a mop of curly brown hair.

He’ll never speak, feed himself, go to college, get married or have a job, his parents said. But his parents also said they are not hopeless or helpless, in fact they are quite the opposite.

Mathew Might, a professor of computing and pharmaceutical chemistry at the University of Utah, noticed something about his son when he was born.

“[We] knew something was not quite right. He was not developing normally,” Mathew Might said. In his gut, this dad knew something was wrong.

Cristina Casanova Might was a first-time mom, who also knew deep down, her son's nonstop screaming was not colic or anything else other well-meaning parents or doctors told her. Anytime she held him, he screamed.

The Might's frustration over what to do turned to worry as constant crying turned into nearly non-stop seizures. Their baby was in pain and crying all the time, yet he never shed and actual tear.

Cristina Might went to doctor after doctor.

“It might be brain damage, then it wasn't brain damage." Cristina Might said. "There was nothing on the MRI, so it was some other horrible disease. Then it might be cancer, and then there's no cancer.”

She said not knowing was exhausting, but they kept on going, carting her “little baby — my one-year-old baby — all over the country.”

Mathew Might describes those first years as "impossible to truly capture."

"The stress you feel as a parent when you cannot get an answer for your child's illness, when you do not know why — it's a constant state of suffering,” he said.

DUKE UNIVERSITY FINDS ANSWERS

After years of searching, the family finally landed at Duke University, where they were doing an early study on clinical sequencing.

Bertrand's entire genome was sequenced at the university, and after four years of searching, doctors found a genetic mutation called NGLY1.

The Might's son was the first patient to be diagnosed with the new genetic disease. For the exhausted parents, it came as a huge relief.

Cristina Might said that, as a mom, she simply wants to fix things, yet fixing a rare disease is not easy and can take a lifetime.

The Mights didn’t stop with diagnosis, they got to work.

Mathew Might built a blog that, using Search Engine Optimization, would rise to the top of any NGLY1 symptom-related Google search.

“If other patients are out there searching for similar symptoms or the gene name, I wanted this plug post to pop up front and center," he said. That is exactly what happened.”

Within two months of posting the blog about Bertrand and his rare symptoms — like his lack of tears — they found other possible patients. Two years later, there are 57 known cases of NGLY1, and maybe more importantly, hope for those families.

“It was the lack of tears” that helped “people pick up on, the final piece of the puzzle,” Mathew Might said.

UNIVERSITY OF UTAH HUMAN GENETICS

Once Mathew Might had gathered dozens of families that could verify the disease and its effects on the body, he kept working. The next step was funding and finding researchers willing to work on a disease with only a handful of patients. He wound up at his own university and found a researcher willing to take on the challenge.

Clement Chow, a University of Utah geneticist, was able to create the same NGLY1 gene mutation found in Bertrand's DNA in fruit flies.

“We have this model of NGLY1 in flies, and they die early," Chow said. "We found through a number of studies that we can supplement their food with this special kind of sugar, and it allows them to live a lot longer."

In less than a year, Chow's lab found a complex sugar available at health food stores that would exponentially increase the life span of NGLY1 fruit flies. That same sugar, available for just 20 cents a day, was given to Bertrand — and something happened.

“For the first time in his life, after taking this compound, he was able to cry tears," Mathew Might said. "It was an emotional significance for us, but it is a clear clinical significance that he will not go blind as a teenager.”

He said he knows this is not a cure, but calls it a huge step in the right direction.

Chow’s lab, which made the discovery, is looking to the future.

“The biggest next step is trying to understand why the sugar helps the flies,” Chow said.

The Chow and Might families are now friends and on a joint mission to bring precision medicine to the masses.

For Chow, the discovery “gives [the study] purpose and makes it more than just a science project.”

WHITE HOUSE PRECISION MEDICINE INITITATIVE

Mathew Might continues his work finding a cure not just for his son but for millions more families with rare diseases. His drive and vision have taken him to the nation’s capital and the White House, where he now spends many of his days.

“We are very rapidly pushing other diseases through the same process as well, and this is something you can repeat over and over again," Mathew Might said. "We are building a new way of conducting medicine by targeting the root cause of disease.”

His work is happening thousands of miles away from his family — and mere steps from the president’s office.

Mathew Might was tapped by former President Barack Obama to help launch the precision medicine effort nearly two years ago. At his first precision medicine summit at the White House, Mathew Might told his family's story and explained to experts in the field, “it takes collaboration, patience, government industry and academics working together.”

Watch Mathew Might tell his story at the White House summit here.

It's been a sacrifice for the Mights, but they said they wouldn’t have it any other way.

Cristina Might stays at home with the couple’s three children in Salt Lake City.

“A lot of our family’s motivation is that we are doing this, not necessarily for Bertrand, but for that mom sitting in her doctor’s office with a 1-year-old baby,” Cristina Might said.

She said they’re doing it so that mom or dad will hear “this is what your child has, and this is the treatment.”

Mathew Might, who’s just signed on for another year under the Trump administration is, “optimistic — one day all parents can do what we have done.”

And Chow’s end goal? It's “to develop therapies specific for each person.” He said he thinks it's a “good goal, a tough goal.”

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