Local family's journey takes unexpected path

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

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.