Fewer than 1,000 cases of of CDKL5 Deficiency Disorder (CDD) have been reported worldwide. It’s a disease which causes seizures, developmental delays and functional disability.
In Oregon, there is exactly one known case — a 6-month-old girl in Sunriver named Cedar who has bright eyes and a warm smile.
Her family got back in town Tuesday from Colorado, where she will now undergo experimental therapy twice a year. It’s just a small sample of what the Deiro family does to try and ensure the highest possible quality of life for Cedar, now and in the next few years as she begins to grow up.
“We got the genetic panel back and it was just this, I mean, it’s a big deal. You know, here’s this rare disease,” Cedar’s mother Nikki Deiro said. “It’s going to impact your life and her life forever.”
Most of the few known cases are non-verbal.
“Even our neurologist said, ‘Here’s a piece of paper and here’s the paragraph that I know about it, and this is all I know about it,’” Nikki said. “It’s just really hard to be constantly walking in unknown.”
The trips to Colorado are a tough fit into the schedule for the Deiro family. Including Cedar, they have five children under the age of seven. But it’s necessary to manage Cedar’s daily seizures.
“Her entire body locking up certain amounts of spasming,” Cedar’s father Jordan Deiro said, describing the seizures. “She usually throws up at the end of every one, and then you can tell it affects her because for hours afterwards she is extremely upset.”
Cedar has had as many as 50 seizures in a day.
The Deiro’s tried everything: medicine, nerve stimulators and diets, but therapy is the only treatment Nikki says improves Cedar’s quality of life.
The research has fostered the family into a community of other families struggling with the disease.
“Talking with other moms and dads, it doesn’t get easier,” Nikki said. “Oh, you’ve dealt with it for 15 years and now it’s just a part of your everyday life.”
“You’re around older versions of what she will be,” Jordan said. “Her future is very much in your face.”
Part of that community support comes from a GoFundMe Nikki’s sister has set up. The Deiro family says what has been donated is helping manage medical expenses and raise awareness to push forward disease research.
“Most people battle with having no support, no community and I think we have the best kind in all angles,” Nikki said. “So I think the first five years of her life, we’re going to really focus on getting her as much therapy as we can. Occupational, physical, vision, to try to give her the best quality of life that we can.”
You can find Cedar’s GoFundMe here.