When Children Become the Caregivers

Perhaps every son thinks his mother is deserving of a “Best Mom” award. My sister and I certainly do! As a single mom, she ran the world: raising us, working as a nurse, running a business and volunteering. But it all changed five years ago, when at the age of 56, she began experiencing the symptoms of what we would later learn was early-onset frontotemporal dementia (FTD). After being a parent for 18 years, she lost the capacity to be a “mother” to her children.

My mom left little undone with the time she had before the disease took hold of her. She was a skilled oncology nurse as well as a case manager for several hospitals and health insurance companies for 33 years. But in 2015, she had a seizure with no warning. In the months that followed, we saw a multitude of changes occur. It began with speech changes where she would substitute commonly used words for ones that were technically correct but not consistent with how she spoke. Her emotions changed. Every emotion was more pronounced and more intense: joy, sadness, excitement and anger. Initially, these changes were so subtle that anyone who had just met her or even someone who had known her as a friend would not have even noticed. As her children, we noticed but had no idea what to make of it or what to do about the changes we saw.

She then began having periods of confusion. She could speak and communicate her ideas, but her ideas did not make sense. She also seemed to be fixated on working late into the night, and her sleep pattern was completely off-cycle. She sometimes called friends at odd hours, like 2 a.m., to speak with them about some event she heard on the news.

This confusion began to affect all aspects of her life, especially her work-related duties as a nurse case manager. One year after her first seizure, she had to take medical leave from her position and was placed on permanent disability.

Ultimately, the confusion became constant. She could not perform ordinary household tasks, like planning meals or paying bills. This all became my responsibility. As her children, we gradually took over all of the things that a parent normally does for a child. We began not only taking care of ourselves but also taking care of our mother.

Throughout this process, my mom had a strange awareness of what was happening to her. She was aware enough to feel the anxiety of not being able to control her own mind, but she did not have the ability to do anything about it.

For three years, my sister and I spent all of our time responding to the effects of something we could not see, identify or do anything about. My mom underwent numerous tests that suggested some abnormal processes in the frontal lobe; however, the inclusion of increasing seizures suggested an aggressive and rapidly progressing disease.

It wasn’t until three years later that we received a conclusive diagnosis after her doctor ordered whole-exome sequencing: it was a rare mutation of the VCP gene. This mutation is thought to cause an increase in protein TDP-43, which produces brain tissue degeneration causing the disease’s symptoms. There are many intricacies in the way VCP mutation variants affect the body. Some affect the cell structures of the brain and others affect muscle and bone.

Currently, there is no treatment or cure for this disease. This diagnosis is devastating because we know how it will progress, from the experiences of those who have had this disease before, but it also provides an amazing opportunity to target the VCP mutation and to cure this debilitating illness. If we are able to increase our understanding of this genetic mutation and apply advancements in medical technology now and in the future, there is absolutely no reason this disease will not become as treatable as other diseases.

Like anyone with or caring for a person with a rare, currently untreatable disease, I, as my mom’s caregiver, have two goals. The first being a short-term goal: to do everything I can to treat the visible symptoms of the disease and make sure she has the absolute best quality of life. The second is the long term-goal to treat the root cause of the disease. Treatments for rare diseases do not just appear; it takes an enormous amount of concerted effort by many motivated researchers, clinicians, patients and advocates, to learn about the possible interventions and to fund their development.

I signed my mom up for the AllStripes’ VCP disease research program because it enables us to actively contribute to the knowledge of her disease and will help our patient advocacy organization, Cure VCP Disease, better engage with researchers and pharmaceutical companies who will create the treatment. The AllStripes platform makes it easy for patients of rare diseases to contribute their health information to their disease’s body of knowledge — a crucial first step in achieving the goal of a treatment.

My sister and I grieve that we did not get to ask our mom the type of questions whose answers can only be appreciated by young adults. Some days she sheds tears of frustration and grief, and other days we see glimmers of who she used to be in small things and in little ways. Like our mom, we too shed tears of frustration and grief. Although she cannot communicate with words, her eyes with a single look can tell you all you need to know: she deserves the“Best Mom” award. Thank you, Mom!