Stella's CDKL5 Diagnosis Showed Him What Life Is All About

By
José Vadi
Jun 18, 2021 • 3 min read

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

Joe's passion has always been being there for his family. When he became a grandfather in November of 2019, he was ecstatic — all he wanted to do was help out with his first grandchild. He describes Stella as the love of his life, a little girl who delights in being bounced and relishes eating.

One day last April, Joe’s daughter, Jessica, called him at 8:30 in the morning. Joe says she sounded elated: At 5 months old, Stella had rolled over for the first time. “We were so happy,” Joe remembers, “so excited.” Just an hour later, Jessica called back again, explaining that she thought she’d seen Stella have a seizure.

The family’s pediatrician referred them to a neurologist, and within days she was undergoing tests at UCLA, coincidentally under the medical guidance of the founding lead for the Los Angeles CDKL5 Center of Excellence. Stella was initially put on anti-seizure medication, which unfortunately didn’t stop her from seizing. About two weeks after that first seizure, one of Stella’s test results indicated the marker for CDKL5, an X-linked genetic disorder characterized by seizures that begin in infancy.

As Joe and his family would soon learn, CDKL5 symptoms usually occur within a baby’s first three months, and can appear as early as the first week of life. Most children have daily seizures, and many have severe intellectual disabilities and little or no speech. Right now, the condition is managed primarily through different forms of therapy. There is no current targeted treatment or gene therapy for CDKL5. “When you read that,” Joe says, “your heart just collapses.”

Joe explains that Stella’s diagnosis has been a life-changing experience for his family as a whole. “It’s one of those things where you stay focused on your mission to help her,” he says. “We hope we can provide her with as much fulfillment as we can.”

Amidst the pandemic, Stella’s parents booked as many therapy opportunities as possible, including remote speech therapy. Joe explains that his daughter and son-in-law are extremely busy managing Stella’s care and staying vigilant in case she seizes. Witnessing one of her seizures, he says, is “heart-wrenching.”

After a period on steroids and then hormones, Stella was still seizing, and by the summer of 2020, Stella’s care team wanted to try a ketogenic diet, a strict low-carbohydrate diet that’s sometimes used to treat epileptic seizures. As someone who’s always loved to cook, Joe knew this was one small way he could help.

“I get the recipes from the dietician and twice a week I put a batch together of food for Stella,” he explains. “She’s a great eater! When you feed her, see her chew the food, see a smile on her face — I can’t tell you how gratifying that is.”

After a short amount of time on a ketogenic diet, Stella’s seizures stopped, a remarkable “honeymoon period” that lasted for 36 days. Though her seizures have returned, Joe is still cooking for Stella — and her parents. “I make sandwiches for them every day, just so they have something to reach for,” he says. “If they throw it out, that’s fine. If not, they have something in the fridge.”

“The most important thing is to appreciate Stella for who she is. The thing that I’ve gained over the last year is just an appreciation for what life is all about. We take so much for granted.”

AllStripes community members might recognize Joe from the CDKL5 research program page gallery where he’s seen sitting with Stella on his lap, glowing with grandfatherly pride. His whole family is united in their determination to find a cure for CDKL5 and stay #StellaStrong. They’ve contributed Stella’s medical records to research through AllStripes, to help grow knowledge about the condition and power multiple future studies.

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

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.