Simple tasks take longer for Heather and her brother Logan. They both have Miller Syndrome, an extremely rare disorder that causes face and limb malformations. Heather and Logan also have a lung disorder known as PCD. But both their parents are healthy.
That's what led the family to be scientific trailblazers -- the first in the world to have their entire genetic code sequenced. Now, they know for sure that their problems are genetic.
"It's given us peace. It's given us answers," Debbie Jorde, Heather and Logan's mom, told Ivanhoe.
"I was really happy. Finding out that Miller Syndrome is genetic helped resolve some feelings of not belonging," Heather told Ivanhoe.
Lynn Jorde, Ph.D., Human Genetics Chair at the University of Utah, started the family's pioneering journey with many other scientists. He's Debbie's husband and the children's stepfather.
Jorde's team work about a year to pinpoint the recessive genes from each parent that caused the kids' diseases. They were able to identify two genes that were the culprits.
Jorde says this is often the first step toward finding cures.
"You can't really figure out how to fix something until you know what's really broken," Dr. Jorde told Ivanhoe.
The discovery doesn't change life or treatment for Heather or Logan. They still need adaptations for chores, medication to clear their lungs, and extra time to do things others take for granted. But now, the biggest mystery in their lives is solved. Making medical history is pretty cool, too.
"It's great to have that place in the world, that my existence has a marker, a permanent marker," Logan told Ivanhoe.
Only 30 people in the world are known to have Miller Syndrome. The chance of Heather and Logan having it and their lung disorder is said to be one in 10 billion. Researchers believe familysequencing could one day become a normal part of a person's medical history records.
In 2009, it cost about $25,000 to get a person's genome sequenced. Today, the cost is below $5,000 per person.
