Living with Rare Diseases
(Formerly "Understanding CDKL5")
For Harper, CDKL5 meant a life filled with both immense challenges and extraordinary strength. Her seizures began within the first weeks of life. She couldn’t walk or talk, and over time, she lost the ability to eat by mouth. She had severe digestive and nutrition absorption issues. She relied on machines to help her breathe and cough, and used an eye-gaze device to communicate when she could. Harper experienced vision loss, including days of temporary blindness, and required specialized equipment—a safety bed, a transport lift, a supportive car seat, and a neck brace—to keep her safe and comfortable. Her care needs were more than any parent could meet alone, so we had full-time home health nurses. Every day revolved around medications, supplements,therapies, and adaptations.
What is CDKL5?
CDKL5 Deficiency Disorder (CDD) is a rare genetic condition caused by a mutation in the CDKL5 gene, which is essential for brain development. It leads to early-onset seizures, developmental delays, and challenges with movement, vision, communication, and gastrointestinal issues. Like many of the 7,000 known rare diseases, there is currently no known cure, though ongoing research continues to bring hope for better treatments and quality of life.
Shared Challenges Across Rare Diseases
Families living with rare or severe neurological disorders face struggles few can imagine. Sleep deprivation and exhaustion become constant companions—not the “I need an extra cup of coffee” kind, but the kind where you’ve forgotten what REM sleep feels like. Even simple things —grocery trips, church, family gatherings require strategic planning that would put a military operation to shame. Spontaneity? That’s a distant memory. These days, it looks like deciding which drive through to hit on the way home from therapy and calling it an adventure.
Beneath the exhaustion and endless logistics lies a deeper ache—and a deeper love. There’s grief for the life you imagined, guilt for asking (or not asking) for help, and the quiet confusion of trying to figure out where you still fit in. There’s also the struggle with faith—but just as strong, the need for it. Medicine runs out of answers and hope feels thin. Over time, love starts to win more days than it loses. Families learn to find laughter in the chaos, grace in the grind, and beauty in simply making it through. These aren’t stories of pity they’re stories of grit, grace, and love that refuses to quit.
Living with Rare Disease
Families living with medical complexity learn that resilience isn’t built overnight —it’s formed in the small, everyday moments of care. From organizing appointments to managing therapies, each challenge requires patience, creativity, and unwavering love. Caregiving becomes both exhausting and sacred, teaching families to celebrate progress that others might overlook and to find joy even in the middle of uncertainty.
No one is meant to do this alone. Finding community—through support groups, online networks, or other families walking a similar path as you pass each other leaving physical therapy brings strength and understanding that only shared experience can offer. In those connections, caregivers find hope, laughter, and the reminder that while every story is unique, none of us are alone in the journey. Together, families prove that resilience isn’t the absence of struggle —it’s the courage to keep showing up, heart first, every single day.
