From Genetic Testing to Advocacy: Renee’s Journey with Rare Disease
- Cure VCP Disease, Inc.
- May 23
- 4 min read
In her early 20’s, Renee was given an opportunity to participate in genetic testing to find out if she was positive for a variant in the VCP gene. Her family was part of a VCP research study, and she was well aware of what her future might look like after watching her father, some of his siblings, and her paternal grandmother suffer through their various symptoms, including dementia and progressive muscle weakness. Understanding if she might inherit this rare disease was important for Renee because she wanted to prepare for what her life might look like.
The decision to be genetically tested is personal, and while some prefer not knowing, Renee felt the knowledge would help as she made plans for her family. After counseling and getting her financial matters in order, Renee decided to pursue what is called presymptomatic genetic testing. This is where a person tests for a genetic condition that runs in their family before any symptoms are present. The results of the genetic test revealed that Renee carried the same genetic variant that caused disease in her father and family members. It’s called multisystem proteinopathy (or VCP disease for short).
As a young mother, with one baby and another on the way, she immediately started thinking of the future. Instead of feeling sorry for herself, Renee took this knowledge and used it to make important life-decisions. She and her husband were in the middle of buying their forever home, so they decided to buy a ranch-style house versus a two-story home so she could get around easier once symptoms progressed. She also prioritized doing the big things on her bucket list while she was still healthy enough to enjoy them. She soaked in her busy days as a mom of two … taking the kids to school, practices, performances, and more. She even knocked off all the items on her bucket list, except skydiving.
Then, on May 28th, 2017, everything changed. She woke up and could not walk down her hallway. She was short of breath, and her left foot was swollen. She spent eleven hours in the emergency room that day. The ultrasound showed no blood clots and the breathing treatments were not helping, but her oxygen levels were high enough to be sent home. Yet still, something wasn't right. After visits with a pulmonologist and a cardiologist, she was sent via ambulance to the University of Michigan. There, she learned that her heart was only working at 15% and her diaphragm was paralyzed, leading to lung atrophy. After 11 days, she was sent home with a life vest and orders to do as little as possible.
For four months, Renee was home recovering with little to no additional movement. It was then that her VCP symptoms started to develop ... she started losing strength. She now walks with an abnormal gait and uses a walker to help her get around. She is also living with a rare heart condition called cardiomyopathy, which is a weakness of the heart muscle. Her upper body, still strong, is vastly different from her lower body. She still aims to live her life to the fullest, even though she has lost a lot of her independence.
“I look at my life and every morning I get up is a blessing. My body doesn’t work the way I want it to all the time, and I get mad that I can’t get dressed or get out of the shower by myself anymore. I get frustrated and think ‘I’m not a baby. I'm not an infant. I should be able to do this myself.’ … but I try to not sit in that space for too long. I want to have a positive attitude and feel like that helps me to stay healthy.”
Although life before her VCP symptoms is vastly different from her life now, there are a few things that have remained the same. Renee continues to participate in research studies for rare disease, is an active member within the VCP disease community, and most of all, loves her family deeply. She takes advantage of traveling for research and loves visiting with other VCP patients. One piece of advice she shares is “Be your own advocate, whether or not you’re dealing with a rare disease. You have to fight for yourself. You may not always want to hear what the doctor is saying, but they always need to hear what you are saying.”
When asked if she was glad that she tested for VCP disease in her 20’s, Renee answers, “I am glad that I found out before I had symptoms. I was able to plan and live my life with no regrets.” Both of her children also decided to be genetically tested for the VCP variant in their 20’s. Thankfully, both of their tests were negative and VCP disease will not be passed on to the next generation.
Genetic testing for VCP can be complex, but Cure VCP Disease has partnered with InformedDNA to simplify the process by offering expert telegenetic counseling and test facilitation from the comfort of your home. Cure VCP Disease is also offering a $500 stipend.
With more than 15 years in the genomics industry, their certified genetic counselors provide clear, compassionate guidance to help you navigate your health journey.
Complete the form above and a representative from InformedDNA will call you to schedule your appointment.
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