Importance of genetic testing: Is your baby at risk?

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KANSAS CITY, Mo. -- If you're planning on having children - you're hoping for a healthy baby. There is genetic testing you can undergo before your baby is conceived to learn if they're at risk of carrying  a genetic disease.

Doctors say everyone is at risk for being a carrier of a genetic disease. In fact, 80% of babies with genetic diseases are born to parents with no known family history of that disease.

"As much as we love Ryan, I think given a choice, people would prefer to have a normal, healthy child," said Jon Gale.

Jon and Sandy Gale's 19-year-old son Ryan can't walk or talk. He has a progressive neurological disorder called Mucolipidosis Type IV or ML4.

"I had never heard of it, most people hadn't heard of it," said Sandy, who found out her son had ML4 when he was around a year old.

It's a rare genetic disorder more common among Ashkenazi Jews - people of eastern and central European Jewish decent. But Andrea Atherton -- a genetic counselor at Children's Mercy-- says genetic diseases are common in all ethnicities.

"We all are carriers for certain genetic conditions," Atherton said, "and being a carrier means that those genes are hidden in the body."

Doctors tell the Gales that Ryan's mental function is somewhere around 18 months. There is no treatment or cure, but it is preventable.

"Even if there isn't the history or you think that you're not at risk of having a child with a genetic condition, unfortunately that risk is there," added Atherton.

The Gales were screened for Tay-Sachs disease only. Neither were screened for ML4.

"We got tested for what we thought we needed to be tested for," Sandy said.

Both parents must be carriers of the same disease, and each child has a 25% chance being affected by it. Now a program called JScreen is available, it tests for 19 genetic diseases. You can get an at home screening kit and a genetic counselor delivers the results.

"That's one of the great things about this program, is that people can now have the peace of mind to know before they have children," Jon says.

There's currently no standardized screening, but the Gales wanted to share Ryan's story to educate other families about the importance of genetic testing.

"I would think that anyone that is thinking about having children be before armed with this knowledge, and now that they have this test, it just seems like a no brainer to me," adds Jon.
For more information about JScreen, click on this link. For more information about genetic testing, and an event you can attend on this subject on April 29th right here in Kansas City, please visit this link.

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