"Have You Been Tested?"

          A couple of months ago, I headed to the doctor’s office for my yearly physical. This last visit, I scheduled an appointment with my doctor’s Physician Assistant in order to get the time and date I had someone available to watch my mother. Since I only go to the doctor once a year, I may not see the PA for a couple of years. She’s always very friendly and eager to catch up on my life changes. We all know that many variables impact our physical health, and these little chats can help the doctor flag possible future problem areas.

This became obvious fairly quickly when the PA queried, “Last time I saw you, you were getting ready to retire. Did you get to?"

“Yes!”

“I’ll bet you’re enjoying all of your free time.”

“Well,” I shifted back into my chair to get a little more comfortable, “I’m taking care of my mother now. She’ll be eighty-two in January.”

The PA tilted her head and smiled, “That’s good, that you can have her live with you.”

“It’s more stressful and demanding than I thought because of her HD, but we’ve adjusted to her routine, and we’re managing now.”

“Huntington’s? Your mother has HD?” she grabbed the computer mouse and checked my file. “Is it in your file?”

“I think so. Mom used to come here, too. We moved her to a doctor closer to our home a couple of years ago to make it easier on her.”

“Have you been tested?” she asked as she clicked a tab.

“No.”

She looked at me, blonde eyebrow raised in question.

“No. If I’m not tested, I have a fifty percent chance of being HD free. I can live with those odds. If I get tested, and I’m positive—well, that takes away my hope, you see?”

“If you do test, you could also know for certain that you don’t have it.”

“Or I’d know for certain that I do.” I shook my head. “For now, I have no symptoms. It may seem like denial, but I don’t have HD as long as I’m symptom free. I think it keeps me focused on the present, on dealing with my mother’s decline. That’s enough for me to handle right now.”

And with that our conversation shifted to my test results.

A few weeks later, I friended a young woman on Facebook because I saw one of her posts on a HD page. I’m slowly getting to meet people who either have HD or who care for family members with the disease. This ever widening network of optimistic experts guide my reading and keep me informed of what’s going on in the Huntington’s Disease community worldwide.

This new “friend” quickly emailed me with a brief background of her personal experience with HD, explaining that she (along with her mother and her sister) all have HD. At the end of her message, she asked, “Have you been tested?”

I found myself explaining again my hopeful logic on not having the test done. My siblings have also decided to forego testing unless we show symptoms. I don’t know if our ostrich approach to HD holds any logic, but dealing with a degenerative disease with little treatment options and no cure is overwhelming when handling my mother. I simply cannot add myself or my siblings into the mix right now.

My admiration for those at risk of developing HD who get tested grows with each person I meet who states, “I tested positive.” These courageous men and women (many ten or fifteen years younger that I) handle a life certainty with a level of determination and energy that’s daunting.

My view of HD skews to my mother’s experiences: extremely late onset, problems mainly with depression and anxiety, and relatively mild chorea. As she’s moved into the later stages of her illness, she’s struggling with rigidity, limited mobility, and problems with speaking and swallowing.

If Mom has to make a decision, she can’t unless we offer only two choices to her. So today, when we took her shopping for Christmas gifts, I’d say, “Do you want to give Paula clothes or something for her home.” Then it becomes a matter of always selecting two items until she settles on one. Mom adheres to a rigid schedule based upon the order of her daily routine, not time. I don’t think she can judge time at all anymore. However, for the majority of her day, her cognitive functioning stays sharp. We’ve learned how to structure conversations about the news, movies, or television episodes where she can comment in short phrases. Her problem doesn’t stem from not having something to communicate, but in having the ability to physically form the words.

I know from the research I’ve done that my mother’s progression through her illness is relatively stable and gradual. Some days, when I feel frightened about what comes next, I take strength in the fact that she’s not the typical HD patient. Perhaps that’s another reason I haven’t tested. I know that if I carry the gene, I’ll probably have an earlier onset of symptoms than my mother. Chances are higher that I’ll progress through the disease at a faster pace, and need more help at an earlier point in my life. Because of my current age, showing symptoms will happen sooner, rather than later.

Every day I record my thoughts, feelings, and reflections in a personal journal. If I don’t have HD, I hope that my experiences with my mother will help other caregivers. On the other hand, if I do have HD, my journals should reflect a log of someone who is pre-symptomatic and show the shift into the earliest evidence of the disease. By not testing, by not knowing for certain, I feel my journals may someday help another family.  

Copyright 2011 Elizabeth Abrams Chapman

“Another Round of Up and Down”

         Huntington’s Disease impacts people differently. The more I read, the more I realize that this disease affected Mom much earlier than I’d first thought. For many years, she complained about having “Blue Days.”  Never bad enough or frequent enough to seek treatment, Mom would call sometimes near tears. These lonely days would end quickly, and I internalized the lesson that mild depression “just happens” and you weather through it. Looking back, I believe these downturns may have signaled the early changes HD brings into a person’s life.

         By the time my mother was in her sixties, she began complaining about never going anywhere or doing anything. My father would plan some kind of activity or outing, and my mother would shoot the idea down for some nebulous reason. Dad’s frustration resulted in him giving up on suggesting things they could do together, and Mom grumbled even more about being stuck at home. When they bought the land in the Hill Country, Mom’s enthusiasm returned. She loved planning and tackling each project for the cabin.

         Around this time, her first motor symptoms emerged. While she watched television or sat in the car, Mom would shuffle her feet restlessly. I asked her many times if she could stop, and she’d reply, “Of course. I’m just exercising my legs and ankles.” Then she’d rotate her feet around deliberately for a moment or two and settle down. Sometimes, Mom would suffer from bouts of anxiety. These spells of worry didn’t last long, and again she never even mentioned them to her doctor.

         After my father died, Mom moved to San Antonio and took her own apartment about a mile from our house. She would walk over some mornings and spend the day. She didn’t like driving, though, and began saying that she felt like her perception was “off" when driving. Gradually, other signs of HD surfaced. Mom complained about being “askew” and off balanced. Several times her leg would simply fold beneath her. She went to the doctors about these symptoms, but no one knew exactly what was happening. One neurologist suggested genetic testing because Friedrich’s Ataxia had already been documented in her family (her niece had the disease). He felt it was possible Mom was a carrier and expressing the gene for some reason as she aged. At that point, Mom decided she didn’t really want to know.

         Eventually, a very slight stroke kicked Mom’s HD into temporary overdrive. A young lieutenant at BAMC made the diagnosis when she witnessed Mom’s movements. This physical therapist had worked with an HD family in her short career. The neurologist handling Mom vanished with her for over an hour and came back stating that he really didn’t think she had HD, but he suggested we do the genetic testing anyway. Mom went to a rehab facility to work on her motor skills, but her balance never fully returned. The physical therapists and doctors suggested she “furniture walk” when in her small apartment and use a walker whenever she went anywhere.

         Of course, the genetic testing showed that Mom is a carrier for Friedreich’s Ataxia, that she has 40 CAG repeats, and that there is a third defect on another gene that has unknown impact. This diagnosis, made five years ago, gave us labels. Now we could help Mom make knowledgeable decisions and prepare for her future.

         Over the last five years, HD's neurodegenerative course has touched every aspect of our lives. Mom’s gone from living independently in her own apartment, to an assisted living facility, to our home. Her ability to walk a mile has vanished. She can only take two or three steps with assistance. Her infrequent “Blue Days” gave way to daily battles with depression that medications attempt to control. If she’s gotten enough rest, her personality remains the same gentle, intelligent woman she’s always been. However, insomnia strikes at least once a week, and during those endless nights she morphs into Mr. Hyde. Her usually sharp intellect muddles into confusion.

Edna Abrams
St. Patrick's Day 2012
age 82

         The care Mom needs now involves twenty-four hour a day, seven days a week aid. Fortunately, she can still use her hands and arms for eating, but we must do everything else for her. She needs help moving into and out of her wheelchair, which we must push. In recent weeks, Mom’s developed a need to “pace.” She will start in her bedroom, request that we take her to the family room. Within fifteen minutes, she’ll want to go back to her bedroom. This up and down routine continues for hour after hour. By the end of the day, her legs barely move at all, becoming rigid sticks. Mom cries because she cannot stop this compulsion to go from room to room. On these days, she’s certain that she’s dying and wants me to call her doctor to see if there’s something that he can give her.

         This new symptom, the compulsion to go back and forth from room to room, lasts only one very, very long day. By the next day, Mom settles into her usual routine.  Next month, she sees her internist for her six month check-up. If this new behavior increases in frequency, we’ll ask if there’s some medication that may curb the obsessive-compulsive urgency. Her next appointment with her neurologist isn’t until September, but we can always give him a call to see if any of her current medications need adjustment.

Every time a change occurs, I am forced to accept that HD will win in the end.

Copyright 2012 Elizabeth Abrams Chapman

“Aches and Pains”

         Recently, exhaustion ties me into bed each morning even after Mom rings. As a matter of fact, I don’t even hear the little bell at all. Even once I pull myself out of slumber, my body aches won’t let me do much more than lie on my back and test my muscles. The process involves wiggling my toes and rotating my ankles. If pain doesn’t accompany these tests, I move up to my legs, anticipating the bone deep tenderness. On good days, I progress to my arms and hands, checking them for tingling and discomfort. By this time, I move to the edge of the bed to put weight on my feet. If the floor feels like gravel, I hobble into the other room with determination. Usually by the time I reach the family room, the floor evens out.

         I haven’t made a doctor’s appointment to begin the process of discovering the reason for my morning soreness. Right now, it presents a little inconvenience in the mornings and dissipates like a mist once I force myself into motion. My sister suffers with Fibromyalgia, and she suspects I have the same problem. If the symptoms persist, I suppose I’ll have to try for a diagnosis. As I spend quite a bit of time taking my mother to her various doctors, I dread having to spend any additional time in waiting rooms!

         Always, in the back of my mind, runs the worry that any changes I note in my body or mind may signal the first symptoms of Huntington’s Disease. I can have genetic tests done, but I decided there’s more hope in not knowing. Without testing, I have a 50% chance of being HD free. With testing, I could learn that the CAG repeats skipped me—that I’m definitely free of HD. Wonderful news, of course. The flip side of the genetic testing would be that I do carry the disease. At this point in my life, I don’t want that particular 100% certainty. Being an optimist, I tend to amble through my days with the belief that I don’t carry the disease. In my case, ignorance is bliss!

         People who know me well probably find my decision not to run the genetic tests puzzling. The motto “Hope for the best, but prepare for the worst” has guided many of my life decisions in the past. By clinging to the hope of being HD free, my behavior may not reflect preparing for the worst. However, I took out long term care insurance before I turned fifty, locking in at a pretty decent rate. I can, with a clear conscience, put on any insurance applications that I am disease free since I show no symptoms. My siblings have elected to take a wait-and-see approach as well. Maybe we dance with denial, but as long as each of us remains symptom free, this seems the best approach. We focus on the challenges that Mom faces and set aside the possibility of dealing with HD within our own generation.    

My sister and brother with me!

Copyright 2011 Elizabeth Abrams Chapman