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Taylor Wilson, Deseret News, Family Photo
Heather Madsen, 33, also has Miller syndrome as well as PCD, leading to a more than 30-year search by the family for medical answers.

SALT LAKE CITY — Very few of us can actually say we did something that's never been done before. But one Utah family can lay claim to that distinction, though it's been a mysterious odyssey getting there.

Heather and Logan Madsen and their family recently joined the list of famous firsts by being involved in trailblazing research that mapped their entire DNA, which is now helping to unlock key information about rare diseases, and it could help spark breakthroughs about common ones.

It's a remarkable feat when you consider their journey.

"I've always wondered what it was," Heather said.

"It's been a lifelong question," Logan agreed.

"Thirty-three years we lived without answers," their mother, Debbie Jorde, told KSL News.

Both Heather and Logan were born with a rare disease, Miller syndrome, which causes birth defects of the face and limbs. Logan is a painter; Heather a writer. But everyday challenges are considerable.

"My hands are smaller and my arms are shorter and my shoulders are rotated in, and it affects my hearing and it affects my rib cage," Heather said.

The children were also born with PCD, a rare disorder afflicting the lungs. The odds both would be born with both ailments was less than one in 10 billion. Neither parent had either disease.

"Everyone is curious, and the first thing they ask is: 'Do you know what caused it?' And we always had to say 'No, we don't know what caused it,'" Debbie said.

Years later, Debbie remarried to a University of Utah geneticist named Lynn Jorde, who wondered if he and his team of researchers could learn more.

"You can't develop therapies if you don't know what's wrong," Lynn said.

His idea was that scientists map the DNA of Heather, Logan, their father and Debbie. After consulting with an ethicist to make sure all four were comfortable, they took the plunge and soon had answers.

"We finally know it's a genetic cause. It's a much simpler explanation when we tell people, 'Yeah, it's genetic. This is how it's passed down,'" Heather said.

"I'm coming around to accepting everything," Logan said. "Accepting is a big thing."

It's a historic first: the first family to have all of their 22,000 genes that make up each individual's DNA mapped. That accomplishment is now raising new questions of promising potential breakthroughs.

"I think it's very possible that within the next decade, many, maybe even most, will have their genomes sequences," Jorde said.

In the next few years, it's likely to cost $1,000 or less to map your DNA. That idea has its critics, but others think it could revolutionize medical diagnosis and treatment. Doctors, for example, could predict diseases years before symptoms occur.

The achievement has given a mom, who wrote a book about it, and her kids comfort and satisfaction in knowing they were special.

"When they told us that they found the gene, I got tears of happiness in my eyes," Debbie said.

"To put a stamp in the book, to put a bookmark in history and science is a big deal," Logan said.

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