Love, Loss and the Power of Knowledge

One of the realities of growing up and becoming an adult is the day when children are faced with the need of their parent who may be in failing health or require some type of health-related care, and the child’s commitment to caring for that parent. Roslyn Carter is a former First Lady of the United States and founder of the Roslyn Carter Institute of Caregiving and has a famous quote on caregiving:

“There are only four kinds of people in the world. Those who have been caregivers. Those who are currently caregivers. Those who will be caregivers, and those who will need a caregiver.”

Of course, most of us kids feel that we won’t be put into a position of having to care for our parents and accepting those responsibilities until late in our lives; maybe when we have started our own families and have a more stable life. In my case, this responsibility came at a much earlier age than most.

When I was 16, my mom began to have difficulties with her speech. It was very minor, and I actually didn’t really notice it at first. When I did, it didn’t alarm me, and I thought that maybe she was just tired from work. At that time, it never occurred to me that there could be something medically wrong with her. She started misplacing words or mispronouncing words that began with an “s” or a “c”. My mom and I had a great relationship, and we would often make fun of each other in a harmless way, especially when one of us had a slip of the tongue, but this seemed different because it was occurring more often than in the past. When I asked her about it, she would just chalk it up to being tired from work or the effects of her asthma, and at the time I accepted and didn’t pressure her any further.

After a few months passed her word slip ups not only happened more often, but they seemed to be getting worse and she was having a hard time with her speech in general. During this time, she would mumble through entire sentences and not enunciate any words at all; it was clearly different than it had been even a few months before. She did not think anything was wrong and continued to blame work fatigue or asthma as the cause. Everything else in her life seemed normal: she was still working, driving, and taking care of herself and me. I agreed with her until my Aunt Heidi, who is also my mother’s twin sister, asked me if I noticed anything different about my mother’s behavior, particularly her speech. I shared my observations with my aunt, and I suddenly became more concerned because someone else noticed these changes. Aunt Heidi suggested that we schedule a time for Mom to be seen by a doctor.

We finally got Mom to agree to a check-up and took her to the hospital. She was given an MRI and CT which resulted in the observance of some abnormalities that they were unable to accurately identify but knew that under normal circumstances should not be observed. Although the doctors were not forthcoming with specific information, given our family’s history, my aunt and I had a guess of what might be wrong. My grandmother, great aunt, great uncle, and my mother’s older sister and my Aunt Heather all were diagnosed and died from complications from adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Both Aunt Heidi and I were sure my mother was showing the beginning signs of this disease even though the doctors did not confirm it with their diagnosis. A few months later, she was diagnosed with ALSP after receiving the results of her genetic test.

What made her situation more serious was two months later, she had a seizure at work. It was a focal seizure that only affected the left side of her body. While in the hospital with her seizures she was given an anti-seizure medicine and sent home a few days later. This entire incident made me very anxious because I felt this was the next step in her battle with ALSP and I knew from watching my grandmother’s journey with the disease that our lives were about to change in a big way. It began to be clear that my mother’s disease was progressing quickly, and she would need some type of caregiver assistance. As her only child I knew it would become my responsibility.

This was all happening at the time when COVID-19 became widespread and was starting to shut everything down, which meant I was home from school full-time. I was still responsible for my schoolwork, but my mother’s needs became a priority, and I chose to spend time away from schoolwork caring for her. Most of my work was doing domestic chores like cleaning, cooking, doing the dishes, walking the dog, and taking my mother on errands. Due to the seizures her license was revoked. Caring for my mom was all new to me and at times I questioned whether I could do everything to help her while I also focused on school. I realized that I had no other choice. she needed help, I was available, able and an only child, end of story!

As soon as things appeared to be settling into a manageable routine for the two of us; everything blew up. My mother had completed all her initial testing, including an MRI and memory and cognitive tests at University of Pennsylvania. They informed us of a bone marrow transplant program at the University of Minnesota Medical Center available to my mother and my Aunt Heather. Heather had been diagnosed with ALSP before my mom and was in the final stages of her battle with the illness. The bone marrow transplant was not a cure and had some risk involved, but as a family we felt it was worth Heather entering into the program.  One month into the transplant program, Heather had a heart attack which put her in the ICU and during which her body rejected the bone marrow. Based on Heather’s difficulty with the transplant I felt strongly about my mom not being involved. Sometimes being a caregiver means having hard discussions with the people you love and want to protect. I told my mom that if she entered the bone marrow program it is likely that she would suffer the same fate as her sister and after spending four months alone in Minnesota she would likely die away from home. The alternative would be to go back home and be around family and friends for her final days. My mom decided to come home.

While living back home, Mom had good days and bad. The good days were spent with those that loved and cared for her doing things she enjoyed like going to the beach, being outside, and sitting on the couch and watching lots of TV. The worst day happened when Aunt Heather passed away while still at the University of Minnesota Medical Center; ironically this would have been the same day that my mom was to begin the bone marrow transplant program.

Part of what made my mom’s last days more enjoyable was when one of Aunt Heidi’s neighbors, April, joined us as a caregiver. She was great, had a ton of energy and compassion, and helped me out a bunch. And while my mom seemed to respond in a positive fashion to this new situation, this was perhaps the hardest time for me. COVID lockdown inside a small space, cold weather which kept us inside, my mom’s progressive disease, isolation from my friends, and the ongoing pressures all caregivers experienced were a huge emotional burden for me.  I had nobody to talk with or activities to help alleviate the emotional strain.

The progression of the disease became obvious when the day after my Aunt Heidi launched the Sisters’ Hope Foundation to help support ALSP patients and their families, my mom became quite sick in the aftermath of the event. Part of the celebration included a cake that had purple and pink icing that commemorated the Foundation’s colors. The next day April and I noticed that Mom had slept in later than usual. Later that morning, we checked in on her and saw that she was covered in purple-colored vomit – a result of the prior evening’s celebration – and her room reeked of its odor. It was everywhere and Mom just sat there as if nothing was out of the ordinary. After spending the week in the hospital, my mom returned home on hospice care.

One of the things I remembered that actually was a departure from all the stress of caring for my mom was my upcoming graduation from high school; an event she desperately wanted to attend. All my mom wanted to do was see her only son graduate from high school. She lived for this moment, knowing she succeeded in raising her only child and set him up for his future. She was able to attend my high school graduation, with assistance. It was not without its challenges but ended up being a good time and wonderful memory for me. She was excited, but I wasn’t sure if she would make it as her condition continued to worsen, including more frequent seizures and the addition of home hospice to her care. She made it to my graduation and for that I was extremely grateful, but bittersweet at the circumstances. It’s interesting as I think back about that particular chapter in our lives and how we both began to detach ourselves from different aspects of our lives. Mom from her present physical being which had changed so drastically in the space of a couple of years and me letting go of the person she had become. I couldn’t think of her in the present and kept remembering her past self. A few weeks after attending my high school graduation my mom passed away on July 20, 2021.

I took my mom’s death hard, especially how she died and watching her slip away the way she did. It also came at a time in my life where she and I had become good friends and we would have had so much more to share had she lived. One of the hard lessons I learned throughout this experience was the ongoing affect ALSP had on our entire family and how I might also become symptomatic one day. One of the people who was a huge help to me in the final days of my mom’s life and the weeks after she died, was my Aunt Heidi. She and I talked a lot and one of the things we discussed was whether or not I would want to know if I carried the mutation. From what we know about ALSP, it could be 20 or 30 years before I become symptomatic. I felt strongly that I needed to know for sure. I decided to get tested to see if I carried the CSF1R mutation which causes ALSP.

The process was surpringly quite simple: I received an at-home test where I swabbed the inside of my mouth and sent it to a lab in California. During the approximate two weeks while I waited for the results, everyone was encouraging and telling me that I would test negative, but somehow, I knew, deep down, that I carried the mutation. It was just a suspicion and gut feeling. I knew from family’s experience that if you tested negative, the lab would share that information with a simple phone call. Those who tested positive received a message to schedule a Zoom call to review the results. My fear and inclination came true when I received an invitation for a Zoom call with the genetic counselor.

For most, this is a life-changing experience, and I am no different. I have decided to just live my life as best I can, which means continuing my plans to attend and graduate from college – something my mom and I both shared. I also decided to enroll in an ALSP Natural History Research Study at the Mayo Clinic in Jacksonville, Florida, close to my father’s home. I had an MRI and some bloodwork which I will repeat every six months. The goal of this study is to compile data of people who have tested positive and use that information for future research and hopefully drug development programs. Taking part in the Natural History Study also allows doctors to monitor me for any disease related changes. If and when this occurs, we will be able to take immediate action. I am the first person in my family to receive a positive CSF1R genetic test and have no symptoms. I have lost five family members to this disease, and they have taught me that knowing my genetic status is no longer a death sentence. I am now in control of my future. A future where as soon as the doctors observe changes in my exam and MRI, I have an option available, and hopefully more options in the future.

One of the silver linings coming out of my mom’s situation and those of my other family members is how my Aunt Heidi took the knowledge and emotion of caring for family members with ALSP and created Sisters’ Hope Foundation. With an ultra-rare disease like ALSP where so little information about this condition is known, it’s important that patients and caregivers share their stories with one another. This is one of the more important ways in which we all can learn about ALSP, help others who are new to the disease and have many questions, and forge a path towards future research and treatments.  Although my life is consumed nowadays with college, I still try and be involved whenever I can and share my story. Connecting with others who are going through what my family experienced is sometimes the knowledge they need and knowing there are others in the same situation is comforting. It also helps me fill the emptiness I live with when my mom left my life. My mom lived life to the fullest, she loved me with every ounce of her being and she would want me to advocate every day for early detection of this disease, so I have a fighting chance of living a long and fulfilled life.

~ Mason, 19-year-old carrier, CSF1R genetic mutation