Navigating a Rare Neurodegenerative Disorder as Mother and Daughter

By Melanie Robinson
November 12, 2024

Before her diagnosis, my mom was extremely active and healthy. She loved bird watching, walking, and volunteering at her church and its school. So in 2013, when she began experiencing symptoms like incontinence and difficulties with walking, we knew that something wasn’t right. 

We faced many potential explanations for my mom’s symptoms before receiving her diagnosis. I remember the doctors testing her for numerous diseases like diabetes and Multiple Sclerosis (MS), but neither was the answer. It wasn’t until 2018, that genetic testing at Kennedy Krieger Institute in Baltimore, Maryland, finally confirmed Mom’s diagnosis of Adult Polyglucosan Body Disease (APBD).

And even though we were relieved to finally have a diagnosis, there was still a lot of confusion about what it all meant for my mom. We had never heard of APBD before, nor had most of the doctors we encountered. There was so little guidance on what to expect for my mom’s future! We were surprised to discover that she would reach a point where she wouldn’t be able to walk at all. Practical advice on living with APBD was very scarce, so we had to figure out how to adapt to her gradual loss of mobility on our own.

As Mom’s health declined, she began to lose her balance because she could no longer feel her feet. Each time she tried to climb the three steps to the kitchen, she would fall. Soon, her legs began to buckle, and standing for more than 30 seconds became impossible. Eventually, walking and standing were no longer an option, and Mom came to rely on a wheelchair, which she accesses via a Hoyer Lift. More recently, swallowing has become a challenge, so she now eats only soft foods.

My mom has always been a strong and highly organized woman who took care of the family and stepped up to lead in many different ways, so accepting help from others was difficult at first. The initial loss of independence and sense of control was frustrating for her. Now, Mom acknowledges how much support she needs and frequently expresses her gratitude for the help she receives from her loved ones.

My mom’s home transformed into a living space that catered to her needs. We reconstructed the bathroom to install an accessible shower, and we invested in ramps, the Hoyer Lift, and a wheelchair-accessible van. We hired caregivers to help with her physical care. Now, after the passing of my father, she lives with me because I was able to build my current home in anticipation of her living here. Discovering that some of the medical supplies and caregiver hours we’ve needed weren’t covered by insurance was frustrating. Even so, I feel grateful that we have been able to afford the spaces, devices, and services because I know that others aren’t as fortunate.

For anyone starting their caregiving journey, I encourage you to be patient as you seek out support. Discovering the APBD community has been invaluable for me, and it continues to provide encouragement, insight, and practical advice.

Understand that the emotional challenges are as significant as the physical ones. My mom often expresses feelings of being a burden to me. And no doubt, it’s true that caring for her requires giving up certain things. As a 52 year old empty nester, I imagined my life would look much different. My mom certainly imagined her life differently too. Don’t get me wrong, we have a great life, and despite the challenges in caring for my mom, it feels like a way for me to give back to her for all of the love and support she provided me throughout my life. She was always there for me, and I want to honor that by being there for her now.

Mom expresses her gratitude for what I do for her every day. And I believe that’s one of the keys for anyone. Being grateful for whatever gifts come to us each day is crucial for finding joy as we persevere through life’s challenges. Our relationship has evolved significantly since her diagnosis, and we are closer now than ever before, navigating this journey together in a way neither of us ever anticipated. So we keep on hoping. And we keep on keeping on.