"A Family Disease"

There is not one aspect of our lives that has not been molded by Huntington's disease.
There is not one aspect of our lives that has not been molded by Huntington's disease.

I became aware of what Huntington's disease was at a very young age. My uncle Terry who was like a father to me was in the later stages of HD as I neared age ten. In 1994, when I was eleven, he died as a result of complications from HD. Not too long after his death my mother sat me down and told me the very long story behind HD and our family. She also told me that she too may have Huntington's disease and that if she had it my sister and I may as well. I remember that day vividly. We sat in her car, in a parking lot, in the pouring rain crying and holding each other. I was terrified to learn that what I had just witnessed my uncle through, my mother and my sister and I may succumb to also. It is needless to say that this was a turning point in my life.

Over the next couple of years life became increasingly difficult for my mother. She couldn't hold down steady work, she had trouble driving. Eventually we were evicted from our apartment and became homeless. We were no longer living a carefree life. My childhood was becoming a dark and confusing time in my life. I watched my mother change from a music loving, free-spirited beautiful person into a lonely and reclusive woman. In 1996 my mother underwent genetic testing to determine if she had inherited the defective HD gene. By this time we were living in section 8 housing in Levittown, Pa. This particular day, I got off of the bus and walked home knowing that my mother was either going to tell me things would be okay, or that life was going to change drastically. I came through the door and she let out a cry of despair. I knew what she was going to tell me. I knew she had learned that she too had HD like two of her brothers and father before her. We held each other and cried inconsolably for quite some time.

Not shortly after her results we moved to Abington, Pennsylvania to live with her sister Marianne, her husband Rick and their three children. My mom handled her results gracefully. She lived there until I was about fifteen at which point she asked to move to a nursing home because she was choking and falling a lot when she was alone. She fought a long hard fight with HD. She was determined to live. Her journey with HD was inspiring to me. She woke up and tried to have a good day each day, even though she could not speak or walk or eat much towards the end. She never complained though she would have had every right to do so. My mother died in my arms on June 18, 2007. She was 46 years young.

In 2012 I was newlywed to my husband David. We were trying to decide if children were going to be part of our lives. I was not comfortable having children if I had HD so I decided to undergo the genetic testing process. I was convinced I had HD. I am very clumsy and have always struggled with depression and anxiety which are often symptoms of HD. The day we went for my results I was joined by my Aunt Marianne and Uncle Rick who had helped raise me after my mom became ill, as well as my husband. I walked into the room filled with so much anxiety. What was in the folder in my doctor's hands? The first words out of his mouth were "we have good news for you today". My family let out a guttural gasp and tears. My husband cried. I don't remember what I did. I felt frozen in time. Being at risk with HD was a part of my identity. I left the room that day obviously feeling relieved, but also confused. What did this mean for my sister and her two children? What could I do to prove my worth in this world? A few months after testing negative I became pregnant with our first child. The next five years would be nothing short of challenging.

In late 2012 my sister needed our help to care for her son who was three at the time. She did her best but HD makes it hard for people to realize that things are becoming more complicated in their daily lives. I was about 7 months pregnant at this point and I received a call one day from my sister who asked me to come get her son. I had cared for her kids before in moments in which she needed my help, but this time I asked her if he could remain with us and if we could adopt him. She agreed and we began the long road of being foster parents to him and having our first child simultaneously. In 2014 my sister decided to undergo the genetic testing process. She tested positive with a CAG of 51. She was 34 at the time. I was fairly sure she had it prior to her results being delivered. But still I felt like our family had been betrayed yet again. I hurt for her children, for her, for our family. She and I have always had an unsteady relationship, but I have always loved her nonetheless.

In April 2015 we officially adopted her son. Now he is our son. He calls us both mom which I find simply remarkable. I'll never let him forget who gave him life. My sister continues to progress in her journey with HD. She is much like my mother, a fighter. She hasn't let it destroy her. She takes it one day at a time and I do my best to be a stable source of support to her. There is not one aspect of our lives that has not been molded by Huntington's disease. It is a "family disease" I have heard people say. I would agree with that statement wholeheartedly. My journey with HD will never end as I refuse to ever turn a blind eye to this disease. I have been given the remarkable gift of a second chance at life, I owe it to my family members that were taken too soon by HD to make the most of this gift.

Philly Cure HD has been there for me when I have had questions about my sister's care and Huntington's disease in general. Joanne Luz is compassionate and she listens, which sometime is more helpful than any advice that could be offered. Philly Cure HD offers a personal approach to handling the delicate and complex issues that HD brings into each family's life. This journey will be different for each HD victim and family, but knowing that there are resources and people in our community that can support and advocate for us is truly valuable.

Joanne M. Luz
PCHD Care Coordinator
PO Box 123
East Greenville, PA 18041
215-219-3521
joannehdcare@phillycurehd.org