It was 14 long years before Karen and Jeff Diller, Chambersburg, found out what was causing their daughter to have dozens to hundreds of uncontrolled seizures each day.

Fourteen years of doctors visits. Fourteen years of not knowing. Fourteen years of hoping. And then finally, two years ago, the family got answers. Karly, 15, was diagnosed with cyclin-dependent kinase-like 5 (CDKL5), a rare X-linked genetic disorder first described in 2004, which results in severe neuro-development impairment and uncontrolled seizures.

"She was about two weeks old when we noticed the seizures," said Karen Diller. "And they happened over and over every day. Every single morning I look at her to make sure she's still breathing."

The third of four children, Karly's arrival on July 2, 1996 was a planned Caesarian section where everything was normal. But her early years of life were marked by test after test ranging from neurological exams, blood tests, spinal taps, MRIs, PET scans, SPECT scans, EEGs and skin biopsy.

"We did everything to stop or slow down her seizures and nothing helped," Diller said. "We were kind of resigned to think she is the way she is. But I have to say, it is very nice to know now."

At six months old, Karly was the youngest baby ever at Johns Hopkins Hospital to be placed on a special ketogenic diet to help the seizures. As Karly got older, it was clear she was falling behind in her development, she said.

By chance, the family decided to take their daughter to an eye doctor who thought they may have recognized something during the exam. The eye doctor recommended a geneticist they knew to the family.

Another blood test, this time a genetic array panel, confirmed that Karly was missing the CDKL5 gene two weeks later.

"Does it help? It's not like we can cure it but as a parent, it's nice to know," Diller said. "It turns your life upside down. It was definitely devastating in the beginning."

For 14 years, Diller said she blamed herself since she had gotten sick with a bad virus twice in her first trimester. She has since found solace in the fact that it was not the virus and that 98 percent of the time, the missing gene is not a genetic trait passed down.

Since the gene was discovered in 2004, only about 200 cases worldwide have been officially diagnosed but more are being discovered as awareness continues to spread, according to the International Foundation for CDKL5 Research.

Current research can't pinpoint what causes this gene to go missing, but since it is X-chromosome based, most cases affect girls, according to the foundation.

As with most genes, it provides important instructions for the making of a protein that is essential for normal brain development, according to the foundation. Without the gene, those affected suffer from the seizures as well as an inability to walk, talk or feed themselves.

For the Diller family though, this hasn't stopped Karly from developing into a loving daughter who attends the Franklin Learning Center, loves being outside and enjoys music. The whole family will be visiting the Sight and Sound Theaters in Lancaster for Karly's 16th birthday.

Karly has also had a positive impact on her three siblings, leading them to be more open, loving and compassionate, Diller said.

Her older brother is hoping to get accepted into medical school and her older sister is currently in nursing school. Diller is also planning fundraisers to support CDKL5 research and raise awareness in south central Pennsylvania.

"I just want to do what I can to raise money for the scientific research that's needed," she said. "There's going to be somebody out there who has a child who might have a similar situation as my daughter who has not heard of this."

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Samantha Cossick can be reached at scossick@publicopinionnews.com and 262-4762 or follow her on Twitter at @SCossickPO.

HOW YOU CAN HELP

A spaghetti dinner and illusions show, featuring Brett Myers, will be held at the Brethren Fellowship Church to raise funds and awareness for the International Foundation for CDKL5 Research.

The dinner will take place on Thursday at 6 p.m. at the church at 339 Lincoln Way East, Chambersburg.

Tickets are $10 for adults and $5 for children under 12, with all proceeds benefiting IFCR. Checks should be made out to IFCR.

To purchase tickets in advance, contact Karen Diller at 717-263-9587. For more information on CDKL5, visit www.cdkl5.com.