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Local family's journey takes unexpected path

16-year-old daughter has rare condition known as CDKL5

November 11, 2012|By MARIE GILBERT | marieg@herald-mail.com
  • Karly Diller, 16, shown with her mother, Karen, is confined to a wheelchair and unable to walk or talk on her own.
By Ric Dugan/Staff Photographer

CHAMBERSBURG, Pa. — She loves the outdoors and the feel of a warm breeze on her face.

Music is a big part of her life and so are her friends at school.

But while other 16-year-old girls are looking forward to driving, hanging out at the mall and going to formal dances, Karly Diller is confined to a wheelchair, unable to walk, talk or sit up on her own. She is spoon-fed pureed food and wears diapers.

And almost every day she has seizures.

It isn’t the life Jeffrey and Karen Diller expected for their daughter.

But it’s one they cherish, nonetheless.

Karly came into the world in the summer of 1996 a seemingly healthy baby and everything seemed perfect for the Chambersburg couple.

They had a great marriage, a new home, good jobs, two other children — a 5-year-old boy and a 3-year-old girl —“and we were thankful,” said Karen Diller.

But when Karly was about 2 weeks old, she had her first seizure, followed by another and another.

“So began our new life journey, one we didn’t want to take,” Diller said.

There were visits to major hospitals around the country, blood tests, MRIs, PET scans, spinal taps and skin biopsies.

Karly was placed on a drug regimen and a ketogenic diet with the hope that something would work to stop or slow down her daily seizures.

But still there was no diagnosis.

“Doctors couldn’t tell us what was wrong with our beautiful daughter,” Diller said. “But they could tell us she would never walk or talk and she would always be profoundly disabled.”

Defining CDKL5

Two years ago, her mother said, “circumstances led us to a new doctor who pointed us to a geneticist. It was then, through a blood test — genetic array testing — that we found Karly has a rare genetic disorder discovered in 2004 called CDKL5.”

The disorder results in early onset seizures and severe neurodevelopmental impairment.

There are fewer than 200 cases worldwide, Diller noted. However, more and more children are being diagnosed as awareness of the disorder increases.

CDKL5 stands for cyclin-dependent kinase-like 5, Diller explained, and is a gene located on the X chromosome, which means most of those affected are girls.

The gene provides important instructions for the making of a protein that is essential for normal brain development, says the International Foundation for CDKL.

Diller said she had a normal pregnancy prior to Karly’s birth — nothing that would give a clue that something might be wrong.  And the baby was born full term.

But shortly after Karly arrived home, the Dillers noticed her first seizure.

“I grabbed a video camera, praying I’d never see another,” Karen Diller shared. “But they happened, many per day.”

They were referred to various doctors and medical centers, she said, “and under the advice of one doctor, we took her to Detroit Children’s Hospital to see if she was a candidate for a hemispherectomy. This is where half of her brain would be removed and the other half, if healthy, could take over normal functions. We learned Karly’s seizures were coming from many areas of her brain and she was not a candidate for the surgery.”

Finding the blessings in life

Diller said there were days when she would sit and cry and wonder why.

“One of my many times, our then-young son Kyle, saw me crying and asked ‘What’s wrong, Mommy?’ I told him I wished Karly was normal. ‘Why can’t she be normal?’”

Her son was about 6 years old at the time, Diller noted, “and without hesitation, he said, ‘She is normal, Mommy. She just does things differently than other kids.’”

That comment from her son was the beginning of her healing journey, Diller said.

“Those words hit me and struck my soul. However, I was not yet ready to give up my control and I felt I just had to fix Karly,” she explained. “It took me, personally, about 10 years to find my new normal — to realize I’m not the one on control. God is.”

When times are difficult, Diller said Matthew 25:40 comes to mind: What you do for the least of them, you do for me.

“It was difficult to feel thankful when your world seems to be crumbling and your dreams are shattered,” Diller added.  “But, through our journey, we chose to hold onto the word of God.”

While some days can be difficult, Diller said, “We feel blessed to be Karly’s family and honored to help her. We feel she is our gift. I don’t know why Karly has to endure this and we wish she didn’t. But one thing we know for sure, Karly is not our burden. She is our blessing.”

As parents, Diller said, “we see she experiences the most of life that she can.”

The third of four children, she attends the Franklin Learning Center, where her mother said she loves being with her friends. She listens to music and enjoys spending time outdoors, surrounded by nature.

“If Karly goes to bed after a day with few seizures and has experienced something that brings her pleasure, then I know it was a good day,” her mother said. “One day at a time.”

According to Diller, several years ago, the nonprofit International Foundation for CDKL5 Research was formed to find a cure and treatment.

After learning that Karly has the disorder “and knowing there is research going on to find a cure, Diller said the family hosted their first fundraiser last June at their church — a spaghetti dinner and illusion show.

“We are planning a second fundraiser next summer,” she said. “Through research and a lot of prayer, we hope our Karly will see the benefit.”

After all the years of not having a diagnosis, Diller said she thought it didn’t matter — not knowing what was wrong with her daughter.

“We were just willing to love her and care for her the way she is. But it is really nice to know what we are dealing with,” she said. “It does feel comforting to know there is a name that goes with all of her symptoms. And I am certain there are other families out there who need answers, too.”

To learn more

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For people with questions, Diller said she can be contacted at her email address: Karendillr@hotmail.com

More information about CDKL5, including the latest research, is available at www.cdkl5.com.

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