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SALT LAKE CITY -- Very few of us who live on this planet 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. 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.

What is ... Miller syndrome?
Miller Syndrome is an extremely rare genetic condition that involves multiple physical anomalies. The facial characteristics include downward slanting palpebral fissures (eyelids), the absence of a portion of the lower eyelid and or eyelashes, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Mild to severe hearing loss is usually noted and therefore repeated BAER hearing tests may be indicated to diagnose this hearing loss.
-Foundation for Nager & Miller syndromes

"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, this time 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.

What is ... PCD?
Primary Ciliary Dyskinesia (PCD) is a term for inherited disorders of the structure and/or function of cilia. People with PCD do not have functioning cilia. Their cilia may be completely paralyzed, beat inadequately or in an ineffective fashion, or may not have developed at all. Without functioning cilia, people with PCD are unable to protect their respiratory system. Frequent infections of the lungs, ears, throat, and sinuses are common.
-Primary Ciliary Dyskinsesia Foundation

"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 genes 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."

The achievement is also giving 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.

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.


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John Daley


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