Cure VCP Disease, Inc.
My Mom and FTD
Updated: Mar 2, 2020
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 four years ago, when at the age of 56, she began experiencing the symptoms of what we would later learn was early-onset Frontal Temporal Dementia (FTD). After being a parent for a mere 18 years, she lost the capacity to be a “mother” to her children. She left little undone with the time she had before the disease took hold of her.
My mom was a skilled oncology nurse as well as a case manager for several hospitals and health insurance companies for 33 years. In 2015, my mother had a seizure with no warning and no history of epilepsy or any seizure disorder. In the months that followed, we saw a multitude of changes occur. In the beginning, they were very subtle, but gradually they became more noticeable and extremely alarming. Mom’s symptoms 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. We as her children did notice but had no idea what to make of it or what to do about the changes we saw. We were caught off guard and did not, at that time, have the perspective to look at the bigger picture, or to the future, as we were just focused on the next day and getting to the things that we could control.
She began having periods of confusion. Initially, they would last a few minutes, at other times, hours. During these periods, she could not process information normally. 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 2:00 am, to speak with them about some event she heard on the news. In some ways, my mom seemed fine, but in other ways, her behavior indicated that clearly that she was not.
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. 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. These periods of confusion started to last longer and ultimately the confusion became constant. She was unable to do things, not because her memory wasn’t working, but because her executive functions were deteriorating. This was extremely difficult for my sister and me, individually and as a family, to deal with.
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, nor do anything about. Our initial thought was that this was the same disease that our grandmother and numerous other family members of generations past had been diagnosed with. Although we had a family history of Alzheimer's disease and other vague diagnoses of neurological diseases, my mother’s symptoms did not match up with any of those. However, her symptoms did not appear as a typical presentation of FTD either. The speed of her deterioration, at different points in her disease progression, masked the true cause of her collection of symptoms. We as her children were persistent, with the help of Dr. Stuart Lipton and her other physicians at UCSD Health, in working through the diagnostic process to find the true cause, because we knew without this knowledge, there would be nothing we could do to help her. 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. The puzzling results continued to push us toward newer and different diagnostics because we knew something was causing this and we were going to find it.
It wasn’t until three years later that we received a conclusive diagnosis. It is a rare mutation of the VCP gene. This diagnosis was made in 2018 when Dr. Michael Geschwind of the University of San Francisco ordered whole-exome sequencing. 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. We hope the field of gene therapy will ultimately one day provide a cure to this debilitating condition that overtook my mom.
For the past three years, I have been my mother’s primary caregiver, as my sister has been away at college. Changes in personality, progressive loss of language, and impaired cognitive function have been a heavy blow for us all. My sister and I grieve that we did not get to ask her 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 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.
People have often asked my sister and me how we have managed to get through this situation. My answer is simple, it comes from Psalm 73:26 “My flesh and my heart may fail, but God is the strength of my heart.” My mom not only knew this but lived it out and by God’s grace, we are experiencing His strength in a real and tangible way. Our entire lives, mom taught and equipped us with the tools and skills we would need to face this challenge, and through God’s provision, He has given us the strength to use these skills to care and advocate for her. This is why my sister and I believe our mom deserves the “Best Mom” award. Thank you Mom!