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Genetics testing unlocking the book of life

Utah Success Stories

(ABC4 NEWS SALT LAKE CITY, UT) Don’t be afraid to know what it is, what’s causing it. You’ll always be able to treat the symptoms but knowing what is causing it is invaluable. It’s priceless. It probably saved his life. Those are the words of Robert Watterson, a father trying to help his son, Ben.

Michael Paul, President, C.E.O. and Founder of Utah-based, Lineagen, is using genetics to unlock the book of life.

Paul told me; Some people have an extra chapter. Like Downs Syndrome. An extra chapter of chromosome number 21 that enable them to have these special abilities. Or like the Watterson’s, Ben Watterson, who has a particular page torn out a deletion of book number 22 that gives him his unique attributions and abilities.

The genetic testing that Lineagen does is extremely precise. “They let us identify that single misspelled word in over 3 billion pieces of DNA, that’s how sensitive and accurate the technology is these days” Paul said.

Ben’s Mom, Kristine, explains the reason for their search for answers: He was slow to everything actually. He was slow to walk, he was slow to crawl. There wasn’t any normal development stage. He really didn’t speak at all.

Answers start with something a simple as a check swab. Paul says; “it’s non-invasive, and it doesn’t scare the child and it doesn’t hurt.”

It was surprising to learn the difference with DNA collection methods; Paul continued; “We’ve found through our own research that we have published, that we have a better clinical result when we look at DNA from a cheek swap versus DNA from a blood draw.”

I was impressed that Lineagen has genetic counselor as translators to help explain results.

Kristine Watterson was thankful to get Ben’s results. “We were finally able to find Lineagen and had a genetic study done and we received a diagnosis of 2-2-Q-1-1 deletion syndrome or it’s been called De George Syndrome” she said.

What is it like knowing? Kristine put it this way; Even though there was a little bit of a mourning process knowing some of the difficulties he would face for the rest of his life and that it’s not curable. Not knowing was much harder to deal with. It’s so much easier to know exactly which specialist to see. The commonalities in the syndrome. Being able to diagnosis if he has particular problems associated with the syndrome.

Knowledge turned to action. I got off the phone with the pediatrician after having got the results from Lineagen and the first thing I did was call a cardiologist, because I knew that 80 percent of children that have the syndrome that Ben has have heart defects and they made an appointment for the next day and we were at the cardiologist at 1 o clock the next day. Them having the knowledge that he had 2-2-Q-1-1 Deletion Syndrome opened the door for us to get in the office.

What were the results of that test? Ben’s Mom told me; He had a 20 millimeter, about an inch, large whole between his atria. So, the 2 top chambers of your heart he had a hole. They had to do surgery to close it off, because he couldn’t live like that.

The Watterson’s are clearly grateful for Lineagen.

Ben’s Mom told me in hushed tones; “They saved his life.” I replied; “You don’t say that lightly do you?” Kristen replied I mean it. They did. And they saved our lives too.

With another Utah Success Story, I’m Doug Jessop, ABC4 News. Utah Success Stories is made possible by the generous support of Finance Peak, the ticket to your finance needs.

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