RARE Daily

Learning that Together, We Can Make a Difference

November 4, 2019

I have two family pictures that were taken five years apart. Most people look at them and see how my boys have grown from chubby-cheeked darlings into respectable young men. But, comparing these two pictures makes me think about our journey through hardship and hope. These last five years have been harder and darker for our family than I ever could have imagined.

When the first picture was taken during the summer of 2014 during my husband Nathan’s 20-year class reunion, we were on top of the world. Nathan was engaged in a successful career and I was enjoying volunteer work at my church and the kids’ school. The boys were doing well in school. We spent our weekends together on our ski boat, and we were in the process of buying our dream house on a lake. Life was full of hope and promise. Then, on December of 2014, we lost Nathan’s mother, Patty, to respiratory failure. Her health had been declining for years as she had an ultra-rare, genetic, neuromuscular condition known as inclusion body myopathy associated with Paget’s disease of bone and/or frontotemporal dementia (IBMPFD).

We called IBMPFD “the family curse” because we could not ever remember the name and no one, even physicians, had heard of it. Out of her five siblings, three of them had been diagnosed with this cruel disease, which can attack a person’s muscles, bones, or brain. When my husband’s parents visited us, they brought an entire truckload of equipment including portable ramps and a lift-chair. My father-in-law, Kenny, did not let this disease stand in the way of what Patty wanted to do. Patty maintained a positive attitude despite being wheelchair-bound for more than ten years. She was our rock and life without her would never be the same. 

Our world comes crashing down
After he lost his mother, Nathan decided to find out if he had inherited this family curse. I remember the night that the genetic results came. I stood by and listened anxiously for the news and was ready to talk about it, but Nathan simply hung up the phone, told me that he had inherited IBMPFD, and walked away.

Nathan seemed fine with the diagnosis and slept through the night. I, however, was devastated. I spent the night crying in the closet. We knew that there were no treatments or cures. We had prayed for a cure for his mother. If Nathan followed the same path as his mother, aunt, and two uncles, he would slowly lose strength, the ability to walk, and the ability to care for himself.

I wanted to run to my family, friends, and church to tell them the devastating news, but Nathan asked that I tell no one. His father was still grappling with the emptiness and loss of his wife. His sister had said that she did not want to think about this disease for a long time. And, how could we tell our boys that their father in a few years would probably be in a wheelchair like their grandmother had been?

Nathan wanted to protect his family and I had to respect that. After all, he really was not showing any symptoms at the time. He was strong and capable and there was no reason for him to be labelled as “disabled.” We stuffed his diagnosis down deep in the corner of our minds and continued to live our lives.

As long as I compartmentalized things, I could function. I focused on the task at hand and tried to forget about our secret. Living as if nothing was wrong worked for a little bit. Nathan would avoid volunteering for events that involved manual labor, and we built walls around us. Our world grew small. Despite Nathan’s efforts to hide his condition, people started noticing a difference in the way he walked. On more than one occasion, we would have to attribute his limp to an old sport’s injury. We had to sell the boat because Nathan was having a hard time getting into and out of it. Nathan could not coach little league for our youngest son as he had for our older boys. It was hard letting go of the little things in our lives. I mourned for our old life.

Carrying this burden alone and facing the long road ahead of us began to take a toll on us and our family. We had to lean on our kids to help out more at home. They had to do more of the yardwork and carry heavy things. I told myself that teaching them responsibility is a good thing, but I felt guilty. The kids could tell that we were stressed and unhappy, but they did not know why. Going to church became hard. People were there, they could tell something was wrong, but we just could not tell them. We built walls around us so that we could function. Going to work, taking care of the kids, and fulfilling our community commitments without falling apart was all we could handle. We did not want to burden anyone else, especially our children, with this disease. Afterall, the message that we had been hearing for the last twenty years was, “There is no cure. There is nothing you can do.  The disease is too rare. No one has ever heard of it.” We felt powerless, hopeless, and alone.

We could not have been more wrong.

Joining the fight
Things started to change in November of 2017. We received news that Virginia Kimonis at the University of California, Irvine was trying to get funding for a phase two drug trial for an experimental therapy to treat IBMPFD. This potential treatment had shown promise in animal studies and tests in human cells that suggested it could slow muscle loss in people with the disease. This gave Nathan hope and motivated him to reveal to the world that he had this rare disease.

I was shocked when Nathan decided to reveal our deepest, darkest secret on Facebook and overwhelmed when everyone responded with an outpouring of support and love. We were touched that friends and family cared enough to contribute financially to support ongoing research for a cure.

I had a hard time talking about Nathan’s disease. He had been struggling physically, spiritually, and emotionally for a long time, and it was hard to admit that. This burden had been mine to carry in silence for so long that I did not know how to express my emotions and fears. At the same time, Nathan was starting to have a hard time balancing his long work hours and his declining level of energy. Some mornings, he had trouble getting out of bed.

In the summer of 2018, his doctor recommended that he apply for full disability. For a driven, 40-year-old man, this was a hard thing to accept. The silver lining was that he was granted full disability in just three months. The stress of having to provide financially for our family had been eased by accepting that he was disabled.

In February of 2018, we decided to join the fight to find a cure by creating a non-profit, Cure VCP Disease. We named the organization Cure VCP Disease to encompass all the diseases associated with the VCP gene mutation including inclusion body myopathy, Paget’s disease of the bone, frontotemporal dementia, ALS, and Charcot-Marie Tooth. Over the past year and a half, we have been able to connect with patients, caregivers, and leading researchers around the world. I am in awe of Nathan’s ability to network and find solutions to seemingly impossible problems. He has taught me that if we want a cure, we all have to fight for it. We do not have a cure yet, but we are making progress.

Dealing with a rare disease is not something you should face alone. Nathan and I appreciate the friends that have called, stopped to listen, or written us encouraging notes. This provided the encouragement to keep us going during tough times. Peer-to-peer support has also been invaluable. Connecting with VCP patients and caregivers has helped us overcome feelings of isolation. They understand our struggles, and we can share stories and ideas. We help each other navigate insurance, symptoms, and finding the right care. Patients and their families need to be educated and know how to seek the right care and support. Helping others and being part of something bigger than myself has been the most fulfilling part of being involved with Cure VCP Disease. Being involved in the rare disease community has given me power, hope, and resolve.

The biggest surprise of leading a rare disease non-profit organization is the number of people who are willing to help. Our friend, Alice McConnell, inspired us to create and lead this non-profit. She insisted that we create a patient registry, which CoRDS is providing for free. Jeannie Macaluso, and our fellow board members and VCP patients, have been a constant source of energy and ideas. Physicians Virginia Kimonis, Chris Weihl, and Ming Gou have joined our medical advisory team. Over ten medical professionals volunteered their time and resources to present at our first patient and caregiver conference. The Global Genes organization has been instrumental in giving us the tools and resources to continue to organize. Through the work of FDLA and the Everylife Foundation, our Congressman, Sanford Bishop, is currently endorsing funding for a natural history study into VCP Disease. It continues to amaze me that people are willing to help, but they just need to be asked. 

As much as I have worried about my children being emotionally scarred from this experience, I look at the current family picture and I see a family that is resolved. The boys have matured, and we know that we must rely on each other in ways we never imagined. Our family unit is so much stronger now. This journey has shown me that together we can make a difference.

Photos: Two Peck family photos taken five years apart.

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