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  • Cure VCP Disease, Inc.

Facing a Difficult Reality-Joe’s Story

My family, while deeply connected, has always been private about our struggles. We take care of each other fiercely, but rarely talk about struggles openly.


My mom was strong and independent, but her erratic behavior would put her in dangerous situations. My mom unfortunately suffered many symptoms before she passed away. Looking back, I now realize that the struggles that my mom had years ago were due to frontotemporal dementia, a cognition and behavior disorder that can be caused by a VCP gene variant.

mother and son
Joe and His Mom

One unforgettable incident involved a frantic call from a stranger about my mom "stealing" a green bike in LA. We hopped in the car and drove through the night, only to find her door wide open and my mom wandering the street in her nightgown. Turns out, she'd had a fight and moved her belongings to the parking lot. She didn't even have a car. We helped her gather her things and took her to the emergency room, suspecting a stroke. Sadly, this wasn't the first time such confusion had landed my mom in the hospital.


This dangerous situation brought to light that my mother's living arrangements needed to change for her own well-being. But, my family and I questioned: how to care for her? Privacy was paramount for my family, and moving to Nebraska with her sister seemed like the answer at first. But my mom, with her tendency to wander off and never wanting to wait on anyone, proved challenging.


Ultimately, a nursing home in El Paso became her home. Initially active, my mom's motivation to participate in activity waned after transitioning to a wheelchair. Therapy during this time felt futile, but I cherished every visit with her, soaking in precious moments. My mother passed away at age 72. 


VCP disease has silently impacted our family for four generations. Of my 15 aunts and uncles, 9 of them were affected by VCP disease. Despite the fact that the genetic cause was identified in my family many years ago, my own diagnostic odyssey took nine years.


Accepting how one tiny gene variant can alter lives has been tough for me. The frustration is real, especially when urging hesitant relatives to get tested. But I've learned to be more vocal, sharing my struggles and emphasizing the importance of early diagnosis. Knowing the cause of your symptoms, even without a cure, allows for proactive planning and enjoying life to the fullest. It is so important for families to talk to one another!

a family
Joe with his children

I urge my family, and everyone, to prioritize their well-being, savor relationships, and find fulfillment in everyday moments. Never lose sight of what truly matters.


a couple making a silly face
Anna and Joe clowning around

This is why my wife and I continue to travel and have fun together. Anna and I make accommodations so that we can continue to go on vacations. It is HARD to fly when you have a muscle disease. Navigating airports, especially the vast stretches of San Francisco's, is exhausting. We have started to use the wheelchair pushers, and waiting on them takes SO MUCH time. VCP disease limits my independence, but, together, Anna and I refuse to let VCP disease stand in the way of the things that we love.

 

If you or someone you know is affected by VCP disease, please visit the Cure VCP Disease website for more information about diagnosis and genetic testing considerations.



Help us raise awareness of VCP disease and frontotemporal dementia by sharing Joe’s story.

 

Joe and his daughter

The perspective of living life to the fullest extends beyond VCP. I urge my family, and everyone, to prioritize enjoying life, not just accumulating possessions.


Yours in hope,


Joe











What is VCP disease?

VCP disease is a rare and heterogeneous disorder caused by a pathogenic variant of the valosin-containing protein (VCP/p97) gene. The VCP protein is involved in a wide variety of cellular functions. When VCP is not functioning properly, multiple body systems can be affected, including muscle, skeletal, cognitive, pulmonary, motor neurons, cardiac, peripheral nerves, and the central nervous system. VCP disease is progressive, causing the majority of patients to lose the ability to walk and care for themselves in adulthood.

What are the symptoms of VCP disease?

How can I learn more?


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