Ambassador Stories
June 18, 2020

'Don't Panic. You're Not Alone.'

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Nicole's daughter Olivia is living with CDKL5, a rare disease characterized by frequent seizures. She has some advice for other parents raising rare children.

"People don’t want to see it. People don’t want to know what’s going on. I scroll past things that make me sad. Who wants to be sad?” reflects Nicole, thinking about her daughter Olivia’s journey with CDKL5.

CDKL5 is a rare genetic disorder called an epileptic encephalopathy that causes seizures and developmental delays. It’s a lifelong condition with no cure.

Until recently, Nicole has felt very alone throughout the course of her daughter’s medical journey.

“Pretty much everything was self-led,” she said, in her push to get a diagnosis and then a treatment plan for Olivia’s rare disease. “I had to advocate for her and push to get appointments.”

At just two months old, Olivia experienced her first seizure. Her whole body was shaking, and Nicole had to perform CPR. After two days in the hospital, doctors notified Olivia’s parents that her symptoms were likely from a rhinovirus, which is what causes the common cold.

Nicole was skeptical, but she took Olivia home to see if the seizures would stop after her mild cold cleared up. They did not.

Olivia’s parents pushed for more answers, and after a spinal tap, MRI and bloodwork, they were given a diagnosis of CDKL5. However, the doctor could tell them nothing more.

“It’s something I’ve never heard about,” the doctor admitted. “Go to your assigned neurologist.”

But they didn’t have an assigned neurologist, and when they tried to make an appointment, the first availability was a month out. “There’s no way I was going to wait a whole month until I could speak to somebody about my daughter’s diagnosis. That’s just crazy,” she recalls with the same frustration she felt in that moment.

Finding treatment options

With no answers for what CDKL5 was or any available treatment options, Nicole turned to places that are common lifelines for the rare disease community: Google and Facebook groups.

Nicole and her husband finally got an appointment with a neurologist who didn’t really provide new information, but did give them a game plan for procedures, therapies and medication.

“The seizures are usually highly medication resistant...and you have to find the right [medication] cocktail for your child,” Nicole said. Olivia is currently on two different types of medications, but it’s not uncommon for children to be on three or more medications along with a ketogenic diet.

‘It’ll be better than you think’

Nicole says the hardest part of being a caregiver to a child with a rare disease is “the weight of it all– the weight of knowing that their development and health is on your shoulders. It’s hard knowing if you’re making the right choices for them. Nobody will ever understand.”

Recently, Nicole found an organization that is committed to helping rare disease patients and families — a welcome “friend” in what can be a lonely journey: AllStripes.

AllStripes is a platform that collects and centralizes all your medical history and shares de-identified information with rare disease researchers to accelerate development of treatments.

“You have a dashboard that you can log into, and it tells you what different drug trials are going on,” Nicole describes. “It’s hard to know what exactly is out there, but AllStripes tells you what trials are available and what’s happening.”

“There’s nobody else out there that collects data and medical records like AllStripes. That is something very unique that I struggled with and many people struggle with. To have a platform that has it all, and it’s digital – it’s amazing,” she said. “To have a team of people dedicated to researching and looking through all the similarities and better research and better therapies, there’s nothing better than that.”

Now knowing that there are others out there who are actively on her side trying to help, Nicole advises other rare disease families, “Don’t panic. You’re not alone ... It’ll be better than you think it’ll be.”

And it has, in fact, been far better than Nicole imagined.

“I thought it would feel different knowing that she’s different,” Nicole admits. “But I feel like I love her even more. We have a very special connection. I have more love than I ever thought I could feel.”

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