‘I Have More Hope Now Than I Ever Did Before’

Amy publicly told her story about VCP disease for the first time in May 2020. She was one of five patient speakers at the Cure VCP Disease Patient Listening Session led by the FDA’s Office of Patient Affairs.

At that point, she had only told some family and close friends about her diagnosis. Amy found it liberating to share her story. “I don’t have to carry this around... I can talk about it,” she recalls.

VCP disease is a group of related conditions caused by a mutation on the VCP gene. The disease primarily presents later in life and affects organs such as the muscles, bones and brain.

Amy had a long history of muscle-wasting disease in her family, with her father, grandfather, aunt, uncle, and sister all suffering from similar symptoms. Unfortunately, many of these family members passed away before they received a proper diagnosis of VCP disease. Amy received her own genetic testing results just a week after her sister’s funeral.

Amy was flooded with grief over the loss of her family members as well as stress about her future. Her diagnosis, however, wasn’t a complete surprise. Two years prior, Amy had noticed weakness in her shoulder when she was lifting heavy weights. “I was getting weaker, not stronger,” she says.

Still, Amy didn’t want to believe that she would suffer the same fate as her family members. After all, the muscle enzyme test she underwent in 2014 had come back normal. Since her dad had been misdiagnosed a number of times -- with ALS, muscular dystrophy and spinal muscular atrophy --- the inheritance pattern of his muscle-wasting disease was unclear.

Amy’s symptoms have progressed from just shoulder weakness to both shoulder and leg weakness. She explains that when she first received her diagnosis, she felt very lonely and suffered from depression and anxiety.

“I’m mourning my life that I thought was going to be,” she reveals.

Right now, her symptoms are manageable but she understands they will progress over time.

Since VCP disease is inherited in an autosomal dominant pattern, Amy knows that her children may also be impacted by the condition later in life. She says she maintains an open line of communication with her children and is more than willing to answer any questions they have. Amy wholeheartedly believes that when her children are older, a treatment will be available for VCP disease.

Amy decided to join AllStripes because of the ease of using the platform to organize her medical records and stay up-to-date on VCP disease research and clinical trials.

“I was really excited that the opportunity came to join AllStripes so it could streamline and simplify that process,” she says. She believes AllStripes helps eliminate the anxiety of doing her own independent research on treatments and clinical trials.

Since her diagnosis, Amy has taken more time to focus on her mental health and self-care. She believes that the mental aspect of the disease is almost as difficult as the physical symptoms. Nonetheless, she has worked to find light in the darkness: “I have more hope now than I ever did before,” she declares. If she could go back, she says she would tell herself to be patient: “There is an army of ridiculously smart people behind you and they are coming to the rescue.”

Being involved with Cure VCP Disease has helped relieve much of Amy’s anxiety. She helps run their virtual happy hour events to help VCP patients connect. “I always tell them they’re my friends I never wanted,” Amy jokes. After the happy hour events, Amy posts a summary on the VCP disease Facebook page to engage patients who may not yet be comfortable joining the calls. She encourages her fellow VCP patients to talk to someone they trust when they are feeling down. She believes that everyone needs and deserves a shoulder to lean on.