News 12 at 6 o'clock--June 2, 2009

GREENWOOD, SC--Genetic testing is not something a lot of people know about, but it's answering medical questions for families all over the world. It can provide answers to folks that have been searching for them for years.

Imagine having a disease or a disorder that no one can diagnose. Can you imagine the frustration and the stress that would cause? The answer is there, sometimes it just takes someone looking through your DNA for it.

From a quick glance, Katherine Ryan is a normal kid. But stick with her long enough and you will see her struggle with things most of us take for granted. Things like walking, talking, and eating.

Just about everything, except smiling and laughing.

Katherine Ryan has something called Angelman's Syndrome.

"It causes her to not be able to talk and walk like normal children do" her mom told us.

She's delayed in development in so many ways, but she is easy to make a smile or laugh, a common characteristic of Angelman's patients.

They now know, but mom, Melanie, and dad, Scott, spent a lot of time not knowing what was wrong. No diagnosis was ever right. Until they got in touch with the Greenwood Genetic Center in Greenwood, SC.

You see Katherine Ryan didn't have something like the flu or chicken pox; that is relatively easy to diagnose.

She had something only a genetic test could properly diagnose. Because as her physician Dr. Steve Skinner says, the visible characteristics can be hard to see for a while.

"Typically children with Angelman's are normal at birth. Head size is normal. Birth weight is normal. Everything is normal" Dr. Skinner said.

So, Katherine Ryan's blood work was sent off to a lab at the Center to be examined. Her genes and DNA were thoroughly examined. And get this, they found one gene was deleted on one chromosome.
Something so small made her life so much different.

It's tough news for any parent to face, but it was an answer. An answer Melanie and Scott had been searching for years to find. Now with that answer came some treatment options. They come for treatment in Greenwood every year and the results have been tremendous.

"Before she couldn't hold her head up. She would just sit in a crib" Scott said with a smile on his face.

The hope now is more genetic work will provide a cure.

"Hopefully, she'll be able to tell me I didn't want that sweet potato" Melanie said.

But until then, Melanie, Scott and big sister Caroline will just keep loving their smiling angel.

"I'm glad god gave her to us" Scott told us.

"I honestly think in my lifetime, she'll be able to say mommy I love you," Melanie said with a look of hope in her eye.

Genetic testing can do a lot, but it's not right for every situation and every person. It is an option for some folks and it can provide answers that other options can't. Talk to your doctor if you think a genetic test would be right for you or your family member.