My name is Anna. My husband, Joe, was diagnosed with VCP disease in June 2023.
Joe's athletic past is a stark contrast to his present struggles with mobility. Joe was once a runner who could run many miles without hesitation. He was an avid baseball and football player, loved volleyball in both court and sand, and golfing with his best friend Fred. He served as a Marine for 16 years. Being together for 24 years, Joe, the kids, and I would travel everywhere … Disney World, Disneyland, Legoland, hiking trips. Needless to say, Joe was a man who conquered physical activities and adventure with ease.
But VCP disease, a cruel hereditary illness, has gradually chipped away at his strength. Around 2014, Joe started experiencing walking difficulties and lumbar pain. After his second ACL surgery on his left knee, I noticed that even rehab was not helping him with his stability. He even started wearing a brace to help support his knee. Being in the medical profession, I became Joe's advocate and partner in this fight. I was able to get Joe seen by my neurosurgeon for an MRI and a neurologist for an EMG, but even after extensive tests, we could not find the cause of his irregular symptoms.
The EMG was very difficult for me to watch …. Joe was suffering from leg cramps the entire time, especially when a needle was inserted during the testing. As different areas of his legs were tested, the doctor would pause in between listening and go study the MRI … It was concluded that there was no reason why his symptoms were so irregular. So, we went on with life dealing with pain and Joe’s decline in muscle strength. Even Joe’s daughter noticed that he was struggling with long periods of walking during a family trip to Disney World in 2019.
We continued to push for answers and navigate the complexities of the healthcare system. In 2020, a neurologist prescribed AFO braces for Joe but attributed his issues to diabetic neuropathy, despite his consistent blood sugar levels. These years of misdiagnoses and unanswered questions were very frustrating. We just wanted to know why his health continued to decline as he was losing muscle tone in his arms and legs.
A breakthrough happened in April of 2023 because of a text from Joe’s uncle. Joe’s uncle advocated that Joe and his siblings get tested for inclusion body myopathy … a progressive muscle weakness that can be caused by a VCP gene mutation. His uncle revealed that a lot of Joe’s aunts and uncles had tested positive for this disease, and several family members had passed away from its complications, including Joe’s mother.
My heart sank when I quickly researched inclusion body myopathy … all of Joe’s symptoms (frequent tripping and falls, knees giving away, muscle cramps, and foot drop) could all be attributed to this genetic disease. Now armed with the family history of VCP disease, we consulted another neurologist in 2023 which led to a referral for genetic testing. The genetic test confirmed that Joe had a VCP mutation that was causing his muscle weakness – a diagnosis that brought both relief and a sobering reality. Despite the hereditary nature of the disease, Joe's diagnosis took nine years.
Joe and I were introduced to the Cure VCP Disease organization soon after his diagnosis. We learned that his uncle had shared a testimony in 2020, and his symptoms were much like Joe’s. It is very sad to know that Joe and his uncle were both suffering from the same things at the same time, but they did not know. In July of 2023, we attended the VCP patient conference, met other families, and gained valuable knowledge about the disease. It prompted us to post on Facebook about Joe’s diagnosis — this post has opened communication within our family and re-connecting with his cousins.
Despite all the challenges, our love for each other and our family remains strong. We have traveled the world together, created lasting memories, and faced diagnosis with courage and grace. We prioritize life's precious moments and do not get caught up in the endless pursuit of material things.
We share our experience to encourage others, especially Joe's family, to get tested. Our hope is to prevent others from enduring the same diagnostic odyssey and ensure early intervention for future generations.
Thank you for letting us be heard! We are hoping for a cure for Joe, his family, and for everyone who is impacted by this!