When Marissa Bishop’s vision of the future changed with her son’s rare disease diagnosis, she discovered very quickly the importance of community and finding ‘your people’. She discusses the support she has gained from the CDKL5 community, and how she is paying it forward to others navigating their own RARE journeys

Anticipating new motherhood, I had a beautiful vision of how it would be. Baby snuggles, coos, milestones, first words and so many fun adventures. When my newborn son, Gregory, began having seizures at four weeks old, my vision of motherhood drastically and irrevocably changed. Gregory was diagnosed with a rare, developmental and epileptic encephalopathy called CDKL5 deficiency disorder. With the diagnosis came the reality that motherhood, for me, would be intertwined with caregiving and that the intensity of caregiving would remain far after the baby and toddler years.

CDKL5 deficiency disorder is caused by mutations on a gene called CDKL5. This gene provides instructions for making proteins that are essential for normal brain and neuron development. Typical are seizures that start in the first few months of life and severe neurodevelopmental disabilities impacting cognitive, motor, speech and visual function. Medical complexities such as gastrointestinal and sleep disturbances are common.

A naturally social person, it was important to me to make “mom friends,” but with a medically complex and disabled baby, it was hard to make connections with local moms. I remember trying out a play group at the park. While the other moms were handing out snacks to their one-year-olds, I was cradling and bottle-feeding mine. While the other moms were helping kids go down the slide, I was supporting my son’s head in my lap under the shade. When the play group was over, I cried the entire way home.

I was desperate to find other moms in a situation like mine—where we could comfortably chat about therapies and medical appointments, share tips for tube feeding and discuss what shoes fit best over orthotics—and where I could leave the play date feeling understood instead of alone. There was only one other CDKL5 family that I knew of in my state, so I turned to social media to find more people living with this disease.

Facebook has been the place of gathering for rare diseases and CDKL5 is no different. I joined the private “CDKL5 Parents Support Group” about a month after Gregory’s diagnosis. At first, I was an observer trying to soak up all the information being shared, but I quickly became an active contributor, asking questions, celebrating wins and offering support to my peer caregivers.

I even found a few CDKL5 moms who had sons around Gregory’s age—mom friends! Despite being located around the globe, our small group made it a point to stay connected via Zoom calls, where we could engage in real time and see each other’s faces as well as the faces of our sweet boys. It didn’t matter if someone stepped away to fix a beeping feeding tube, or if someone had a seizure. That was our collective normal. The connection was so needed, and I left our calls feeling a little bit lighter because I knew I wasn’t carrying the burden of CDKL5 alone.

The ability to find your people is priceless.

Over the years, the larger ‘CDKL5 Parents Support Group’ on Facebook has been a lifeline for me, but as society begins to learn the toxic impact of too much social media use, and as the algorithm shows us less of our “friends” and more of the “noise”, I wonder about the future. Will Facebook continue to be the place to go for rare disease connections? What about the younger generations who’ve never had a Facebook account? Where can new CDKL5 caregivers go to soak up information from their peers and hear CDKL5 stories?

At the end of 2024, I launched the ‘CDKL5 in Color’ podcast with the goal of reaching our CDKL5 community outside of social media. On the show, my co-host, Amanda, and I engage in topic-based chats about all things relevant to caregiving for someone with this condition. We also invite fellow CDKL5 caregivers on the show to share their families’ unique journeys with this disease.

The response from our community has been incredible! I get messages all the time from CDKL5 caregivers who have felt seen and encouraged from listening to the show. Guests have even shared that being on the show has helped the people in their lives understand them better. This understanding is critical because a lack of support is a top concern for rare disease caregivers. In fact, a lack of qualified respite is the number one area of unmet needs when we ask guests on our show.

I experience this same unmet need in my own caregiving. My son requires 24/7 care, not just for his activities of daily living, but to manage his respiratory status, respond to seizures, administer tube feeds and medications and more. Our primary insurance does not cover home nursing. We spent five years on the waitlist for our state’s Medicaid waiver, but despite now having secondary Medicaid, staffing nursing hours has been a challenge. I currently have no one helping me at home with my son’s care. It’s tiring (to say the least) to manage such an intense burden of caregiving on my own.

There is a spectrum of care needs in CDKL5 deficiency disorder. While my son needs full support simply to get his body from point A to point B, others with more mobility need full support to simply be safe as they get themselves from point A to point B. While my son needs nursing care to ensure he is in good respiratory status, others need hands-on support to manage self-harm behaviours. Regardless of the needs, trained support staff is required, but not always available. This leaves CDKL5 families managing all on their own.

It is both isolating and exhausting.

Being a rare caregiver has challenged me more than anything else I have experienced in life. It has asked more of me than any job I’ve ever had. But unlike a traditional job, the work doesn’t end and emotions are deeply interwoven—anxiety, stress, guilt, worry, but also wonder, hope, gratitude, and above all, love. Love for the boy who made me a mom and gratitude for the friendships I have made that have helped me feel less alone.

The CDKL5 in Color podcast is available for free on Spotify, Apple Podcasts, and YouTube. Visit www.CDKL5inColor.com for more information.

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We are delighted to welcome Paul Kidwell as a regular contributor and supporter of the caregiver voice throughout 2025. For more information on Paul’s podcast check out insickness.org/

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