When Symptoms Don't Make Sense: The Shaw Family's Journey with VCP Disease
- Cure VCP Disease, Inc.
- Sep 25
- 5 min read
In 1998, Jim Shaw was living life to the fullest. A dedicated athlete who played rugby and soccer, he even found time for lunch-break runs. But then something changed—his left foot began to drop as he ran. It was subtle, almost dismissible, but it marked the beginning of a journey that would test his family's resolve for decades.
What no one could have predicted was that this minor symptom—along with every devastating change that followed—would all trace back to a single genetic mutation in the VCP gene.
What followed was a cascade of seemingly unrelated health issues. By the early 2000s, Jim's personality began shifting. He became angry and short-tempered—early signs of the frontotemporal dementia (FTD) that would gradually rob him of his cognitive abilities and emotional regulation. These changes left his wife Susan confused and heartbroken. She knew something was wrong, but without a name for it, she felt helpless watching the man she loved disappear piece by piece.
In 2013, doctors diagnosed Jim with Paget's Disease, explaining that his bones had weakened dramatically, becoming brittle "like Swiss cheese." While an infusion helped strengthen them, Jim's own research revealed a troubling connection between Paget's and dementia—a clue that hinted at something larger.
The decline continued relentlessly. By 2014, Jim needed a ramp to navigate his home. Soon after came the cane, then the walker. In 2016, doctors added another piece to the puzzle with a diagnosis of inclusion body myopathy. Around the same time, as Jim's cognitive symptoms became more pronounced, and with nowhere to turn, the family began participating in Alzheimer's research in Pittsburgh, following the path Jim's mother had taken when she donated her brain to the university after her death.
The FTD symptoms worsened progressively—Jim's ability to think clearly, communicate effectively, and control his emotions continued to deteriorate. What had started as occasional irritability evolved into profound cognitive changes that fundamentally altered his personality and capabilities. For Susan, who had been married to Jim for 30 years, watching the man she'd built her life with slowly disappear was heartbreaking.
Still, no one connected the dots. No physician recognized that the foot drop, the bone disease, the muscle weakness, and the devastating progression of what they thought was Alzheimer's were all manifestations of the same underlying cause: a mutation in the VCP gene.
The Turning Point
Susan's determination to find answers led her to online searches that would change everything. Typing "inclusion body" and "Paget's disease" into search engines, she discovered references to Dr. Virginia Kimonis and Cure VCP Disease. That connection was life-changing.
For the first time, Susan realized that Jim's conditions weren't isolated medical mysteries—they were all connected by a single genetic mutation. The VCP gene mutation was the common thread linking his bone disease, muscle weakness, and the frontotemporal dementia that was progressively stealing his mind. Suddenly, the puzzle pieces began fitting together.
"It would be so helpful if more doctors were aware of VCP disease," Susan reflects, thinking about how different their journey might have been with earlier recognition.
A Family Legacy
The Shaws discovered they weren't alone. About fifteen of Jim's relatives have shown symptoms of frontotemporal dementia, inclusion body myopathy, or Paget's disease—all now understood to stem from the same VCP gene mutation that was silently affecting multiple generations of their family. This revelation transformed their understanding and opened doors to genetic counseling—not just for their children, but for nieces, nephews, and cousins throughout their extended family.
Cure VCP Disease has been instrumental in this process, offering stipends for genetic counseling and testing. Susan calls this support "huge" for families navigating these difficult decisions about genetic testing and preparing for a future that may include round-the-clock care needs.
The Devastating Reality of Progression
As Jim's VCP-related FTD has advanced, the family has watched the complete transformation from an active athlete to someone requiring comprehensive care. The cognitive decline has been particularly heartbreaking—the loss of Jim's ability to engage in meaningful conversation, to recognize familiar faces consistently, and to maintain the personality traits that once defined him.
The physical symptoms have progressed in parallel. What began as a dropped foot during runs has evolved into severe mobility limitations requiring constant assistance. The combination of muscle weakness from inclusion body myopathy and the cognitive changes from FTD has created a complex care situation that demands round-the-clock attention.
For Susan and their family, this progression has meant transitioning from spouse to full-time caregiver, watching helplessly as the VCP gene mutation continues its relentless assault on Jim's body and mind.
Carrying the Mission Forward
Even as his VCP-related disease progresses and his care needs have become all-consuming, Jim has always wanted to share his story, believing that raising awareness can help others avoid the years of misdiagnosis and confusion his family endured. Susan and her family are carrying that mission forward with unwavering determination, even as they navigate the daily realities of caring for someone in the advanced stages of VCP disease.
Since receiving Jim's correct VCP diagnosis, the Shaw family has redirected their efforts from Alzheimer's research to VCP research, becoming active participants in studies aimed at developing treatments for the next generation. Their unwavering determination and dedicated involvement in research have positioned them as leaders in the fight toward a future without this disease. The Shaws' commitment represents more than hope—it's a driving force for change, ensuring that future families won't have to endure the same devastating progression they've witnessed.
Susan's Vision for the Future
"My hope for the VCP Family Registry is that it will be a powerful tool and bring together all the data about this disease to encourage research and educate clinicians," Susan explains, reflecting on the broader mission that has emerged from their personal journey.
The registry represents more than just data collection—it's about making visible the hidden struggles of VCP families, quantifying the true impact of the disease, and accelerating research that could change outcomes for future generations.
Their story serves as a powerful reminder that VCP gene mutations can hide behind seemingly unrelated diagnoses for years. The foot drop, the personality changes, the bone disease, the muscle weakness—all were pieces of the same genetic puzzle. For families struggling with unexplained combinations of frontotemporal dementia, inclusion body myopathy, or Paget's disease, the Shaws' journey offers hope: answers exist, support is available, and early recognition of the VCP connection can help families prepare for the progressive nature of this devastating disease.
Understanding that a single VCP gene mutation drives all these symptoms doesn't make the journey easier, but it does provide clarity. And for families like the Shaws, that clarity—and the community they found through Cure VCP Disease—has made all the difference in facing whatever comes next.
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