Don't Panic. You're Not Alone.

By

Catherine Cooke

Jun 18, 2020 • 3 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

"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.”

Together, we can make a difference.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.