GILBERT, Ariz. — Every June, communities across the globe come together to raise awareness for a rare developmental disorder, by displaying the color lime green
CDKL5 is a pediatric epileptic and developmental disorder. Dr. Scott Demarest, a neurology pediatric specialist from Children’s Hospital Colorado, said it affects about one in every 40,000 to one in 60,000 live births. It’s caused by changes in the CDKL5 gene and many patients are diagnosed within the first year of life.
19-year-old Lily Nothdurft has been living with CDKL5 her entire life. The main symptom patients like Lily battle is epilepsy. Others can include not being able to talk, swallow or walk, said Demarest. He is also one of Lily's care specialists.
“Lily is a little older,” Demarest said. “So she’s not one of our younger patients. So she’s had a long journey.”
There is no cure for CDKL5, but research is happening.
"The treatments available to us at this moment are really symptomatic,” Demarest said. “So, seizure medications to try to control seizures, if they're sleep challenges, medications to try to help regulate sleep. If there's some behavioral challenges or GI issues, which all happen in this population, then just addressing those on a symptom by symptom basis."
Lily’s mom Kim said the pool is one of Lily’s favorite and most freeing places to be. But Kim added it can be a struggle sometimes to get her in the water. So, as Kim has done with their entire journey with CDKL5, she shared her experience on social media.
“Because I know the special needs community got it,” Kim said. “They’re like, 'oh my gosh, us too', we love to go do things, but sometimes, you know, she’s 115 pounds. She’s 5’4”. She’s a big girl. To get her in and out of the pool especially when my husband works 24-hour shifts, I’m on my own trying to carry her in and out and not have an extra pair of big hands, it’s impossible.”
Kim was right, a special family in the Valley special needs community caught wind of her post. Jill Rother reached out to Kim.
“I happened to read a story on Facebook that Kim mentioned that it was so hard to get Lily in the pool,” Rother said. “I instant messaged Kim. I said this is who we are as a family. This is what has happened to our daughter. We see you need something like this.”
Kim, in shock, wrote back.
“I was like, you’ve got to be kidding me. This can’t be true. We’ve never met. Why would you want to give this complete strange family this incredible gift?”
The decision was simple for the Rother’s, whose daughter Brooklyn, like Lily, had special needs. Brooklyn, with her bright smile and red curly hair, was born with a rare chromosome disorder.
“They had the same needs,” Rother said. “It was difficult to get them in the pool, but both girls loved to be in the pool. It struck a chord with me. Especially it being Brooklyn’s Make-A-Wish.”
Brooklyn’s gift, is now Lily’s.
“It has changed our world with Lily,” Kim said.
The gift – a Make-A-Wish chair lift to help Lily use the pool, like Brooklyn did. And it’s a special reminder of just how special the Rother’s Brooklyn was.
“Brooklyn kind of continues to live on through all of the other families who get to enjoy what she had,” Jill said.
Tuesday, June 28, of all days, was a special one for Brooklyn’s family to share her story.
“That’s pretty meaningful,” Rother said. “That was actually the day our daughter passed away, one year ago, today.”
A gift, a weight-lifting legacy, shared with Lily.
“We just say thank you to Brooklyn,” Kim said. “Thank you so much for your gift. Like that was just really special, it was really, really special that her legacy can live on through another family.”
Kim does yearly fundraisers to “Move CDKL5 Forward,” run by the International Foundation for CDKL5 Research.
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