Finding Strength in the Unknown: A Family’s Journey with Gilchrist Kids
At Gilchrist, every family’s story is unique, but some redefine what it means to love and persevere through the unimaginable. For Trent and Beth Machner, parents of six-year-old James, that story began with uncertainty and evolved into something extraordinary. James is the only known child in the world with a PSTK gene mutation, a rare neurodegenerative disorder that has brought both heartbreak and hope. With the support of Gilchrist Kids, the Machners have found comfort, guidance, and connection in a world without a medical roadmap.
A Diagnosis No One Could Explain
James entered the world healthy, but after birth, he struggled to feed, and doctors noticed hypotonia during his exam. As the months passed, small differences began to emerge: he struggled to gain weightand meet typical milestones. Despite months of therapy and medical appointments, answers were hard to find. Then, at just a year and a half, James began having seizures. A few months later, a severe respiratory illness led to a long hospital stay, where new tests revealed changes in his brain that explained his developmental delays. It was then that his parents learned he was facing a rare, progressive neurological condition.
After extensive testing through the Johns Hopkins & the NIH Undiagnosed Diseases Network, Beth and Trent finally received an answer. James has an ultra-rare PSTK gene mutation—a brand new disease discovered by the NIH researchers. James is the first known child in the world to have it. The gene affects how his body protects and repairs its cells, causing them to die over time. This leads to the progressive physical and neurological challenges he faces today. “He’s the first child ever diagnosed with this,” Beth explains. “There’s no path to follow—no one to ask what happens next.”
Coming Home on Hospice
When James was finally stable enough to leave the hospital in late 2021, Beth and Trent faced a new challenge: how to care for him safely at home. “I remember the palliative team asking if we wanted hospice support,” Beth recalls. “They explained we’d have a nurse to call anytime—day or night—and a team to help us manage his symptoms. I said yes immediately. Gilchrist made it possible for us to come home.”’
James was just two and a half when he came home with the help of Gilchrist Kids. Since that day, the Machners have had a circle of care walking beside them: nurses and aides who have become family, a chaplain who listens without judgment, and a pediatric social worker and child life specialist who help ensure their daughter, Nora, has the support she needs, too. “Gilchrist gave us confidence that we could care for him at home with their support,” Trent says. “When you’re dealing with something this rare, decisions can feel immense. Having nurses who can tell us, ‘You’re doing everything right,’ means the world.”
What Pediatric Hospice Really Means
The word “hospice” can be scary, especially when it’s paired with the word “child.” But pediatric hospice is different. Gilchrist Kids is Maryland’s only pediatric hospice and palliative care program, serving families across nine counties. Our interdisciplinary team—physicians, nurses, social workers, chaplains, child life specialists, music therapists, and volunteers—provides comfort, symptom management, and emotional support right at home.
Unlike adult hospice, Gilchrist Kids offers concurrent care, allowing families to continue curative treatments—such as hospital visits, medications, and therapies—while also receiving hospice’s comfort and coordination. This dual approach means families don’t have to choose between hope and quality of life—they can have both.
Through Gilchrist, the Machners have received every kind of support imaginable:
- 24/7 nurse triage and home visits to manage symptoms and guide decisions
- Music therapy and pet therapy visits that bring joy into the home
- Spiritual care from Chaplain Don Hohne, who has become a trusted friend—especially for Trent, who is far from his Australian family
- Child life and social work support, ensuring that big sister Nora feels seen, supported, and included
“When you live this life, you become very isolated,” Beth shares. “Our world is mostly within these four walls. Gilchrist has been our link to those who understand—a reminder that we’re not alone.”
Finding Joy in the Everyday
Though James can’t speak or walk, his world is still full of joy. He listens before he looks—his hearing is how he connects. He turns his head toward familiar voices, especially those of his parents and his sister, Nora. He loves being read to, especially The Very Hungry Caterpillar, and lights up when he hears music. Nora enjoys playing her cello for him, her soft melodies filling the room. Outside, the breeze and the sunlight bring him peace. “He loves the feeling of wind in his hair,” Trent says. “Being outside has always been his favorite thing.”
Even with his physical limitations, James still responds to the world in ways that remind his family of his spirit—his eyes searching for the people he loves, a rare smile, or a small turn of the head toward a familiar sound. “Those moments,” Beth says, “are everything to us.”
Starting the Conversation
For families like the Machners, hospice isn’t a brief chapter—it’s a long, uncertain journey filled with love and loss in equal measures. “There’s this constant anticipatory grief,” Beth shares. “It’s not just one loss—it’s a thousand little ones. The milestones he’ll never reach, the moments that disappear before you realize they’re gone. But Gilchrist helps us carry that.”
The Machners also want to help others understand how to support families like theirs. “People want to help, but they don’t know how,” Trent says. “It doesn’t have to be big—offer to cut the grass, drop off a meal card, or take out the trash cans. Just keep showing up. This isn’t a sprint; it’s a marathon.”
Because James’s condition is so rare, there’s no disease community to turn to. The Machners hope that sharing their story will raise awareness for other families navigating the unknown. They recommend resources that have helped them connect and find validation—sites like:
- What’s Your Grief: A Baltimore-based organization offering practical guidance for families in grief https://whatsyourgrief.com/
- Courageous Parent Network: Supports caregivers of children with serious illnesses https://courageousparentsnetwork.org/
“I’ve learned how much our society avoids these conversations,” Beth says. “But the more we talk about it, the less alone families like ours feel.”
Gratitude in the Hardest Work
Four years into hospice care, the Machners continue to rely on the Gilchrist team for medical expertise, emotional grounding, and empathy. “Every single person—our nurses, aides, Chaplain Don, Kyra, our child life specialist, everyone—has been incredible,” Beth says. “They’ve become family. They don’t just care for James—they care for all of us.”
Through it all, James continues to teach everyone around him what love sounds like—through laughter, music, and the quiet strength of those who stand by his side. “Gilchrist has been there every step,” Beth reflects. “We’re not in this alone.”