Quantcast
Get breaking news alerts via email

Click here to manage your alerts
Betrand Might and his family meet Hudson Freeze, far right, and the researchers who are hunting for a cure for his rare genetic disorder. To the left is Dr. Ping He. Bobby Ng is next to Cristina Might. Photo courtesy of Sam Reed at the Sanford-Burnham Medical Research Institute in La Jolla, Calif.
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.

First Published Nov 25 2012 09:24 am • Last Updated Dec 04 2012 11:30 pm
Feeling triumphant after four years of dead ends, Matthew Might hit "publish," launching a blog post about the hunt for his son’s killer.

"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.

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

Join the Discussion
Post a Comment

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."

‘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.


story continues below
story continues below

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."

Next Page >


Copyright 2014 The Salt Lake Tribune. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

Top Reader Comments Read All Comments Post a Comment
Click here to read all comments   Click here to post a comment


About Reader Comments


Reader comments on sltrib.com are the opinions of the writer, not The Salt Lake Tribune. We will delete comments containing obscenities, personal attacks and inappropriate or offensive remarks. Flagrant or repeat violators will be banned. If you see an objectionable comment, please alert us by clicking the arrow on the upper right side of the comment and selecting "Flag comment as inappropriate". If you've recently registered with Disqus or aren't seeing your comments immediately, you may need to verify your email address. To do so, visit disqus.com/account.
See more about comments here.
Staying Connected
Videos
Jobs
Contests and Promotions
  • Search Obituaries
  • Place an Obituary

  • Search Cars
  • Search Homes
  • Search Jobs
  • Search Marketplace
  • Search Legal Notices

  • Other Services
  • Advertise With Us
  • Subscribe to the Newspaper
  • Login to the Electronic Edition
  • Frequently Asked Questions
  • Contact a newsroom staff member
  • Access the Trib Archives
  • Privacy Policy
  • Missing your paper? Need to place your paper on vacation hold? For this and any other subscription related needs, click here or call 801.204.6100.