HD Testing - my story

When I was 9 years old, my dad was diagnosed with HD. He didn’t know it was in his family because as a young boy he had been sent to live with family members away from his siblings. No one ever told him. He married my mom, had three children and in his early 40’s was diagnosed.

My sister (2 years younger than me) was diagnosed at age 23. At age 30, I decided to have a child. I had thought about it many times, the pros and cons, and decided that I didn’t want to, at age 50 or 60, find out I didn’t have HD and was childless. My son was born.

Six years went by when at age 36 I thought about having one more child. Although it was a very difficult decision, my husband and I decided that another child was in order. Things seemed to be going good and while I was pregnant, because of my age, the doctor wanted to check to be sure my child didn’t have any problems and so they did an amnio.

I went through many questions about my mental state and one of the questions they asked me was “Do you have any hereditary diseases in your family?" I told them about HD. They told me they could tell me if my son was inheriting my dads gene or my moms. I felt very confident that everything was ok and so allowed the test. To my surprise, it was determined that he had inherited my dads, and so the praying began. I knew that if I had inherited my dads bad gene and I developed HD, then my son would have HD. Many years passed before they finally found the gene that allowed them to test and give you a real look at your future.

My brother was diagnosed in his mid 40’s. I was 39. The years went by. Finally, they identified the gene and developed the test but still no cure. My thinking now was, do I want to know? Because of the amnio, I would also know that I had passed it on to my son. I couldn’t deal with that.

When my oldest son turned 23 and started talking about getting married, I realized that now there was another generation that would have to make the tough decisions. I decided to be tested. I went to Tampa to talk about it. I was scared to death. I thought for sure that they would look at me and say to themselves “oh my, she has symptoms and has been in denial all these years”. I would have to face what I did to my children. My stomach was all in knots with worry.

Finally they came into the room. They looked at me, just as I thought they would. They asked me questions. All I could think of was, watch how you talk and move your hands and face. Make sure you don’t trip or make any unusual movements that would make them think you had symptoms.

I had gone my entire life feeling like that. Worried that I was in denial, like my sister and brother were for so many years before they were finally diagnosed. If someone looked at me funny I thought it was because I was showing signs that I couldn’t see.

As we talked, I became more comfortable but still I was watching myself, as if I could fool them. Finally the doctor said that he didn’t think I had any symptoms and didn’t feel like I needed to be tested. Now, age 54, I had gone through so many years of pretending that I thought I had to be tested so I could be sure. I wanted to be able to tell my children that I saw proof that I didn’t have HD and they could live the rest of their lives without thinking about it.

I went for the blood test and had to wait two weeks for the results. It was the longest two weeks of my life and actually wound up running more like three weeks because after the results came in, I had to make an appointment to go back to Tampa for the results. I waited and waited. Finally, the doctor came in with a piece of paper in his hands. It was good news.

I looked at the paper in disbelief. How had I escaped the fate of HD and my dad, sister and brother didn’t? How could I be so lucky, someone who never won a thing in her life? As the doctor left the room and I started realizing what he had said and what it meant, I started to cry and didn’t stop until I got back home (a 2 ? hour trip). I told my kids the good news.

As I was making dinner that night, I accidentally dropped a fork. I looked at my loved ones at the dinner table and said “I’m allowed to do that now. I don’t have HD. It means nothing. I can do normal things now without thinking that I must have HD."

Life after testing has been different. I guess because I finally felt that I could let my guard down, it had a very strange effect. I started to feel guilty for being the only member of my family that escaped. I still have my brother and I am enjoying every minute I still have with him. Still praying for that miracle for him.

But I became very sad as I looked back over my life and realized how much my family lost as a result of HD. The pain, the wonder, planning my life as if I had no future. After a year of crying and getting more and more depressed, I finally had to go on an anti-depressant.

Now I can go and see my brother and not cry. I can answer my friends when they ask me how my brother is doing. And, although I am still praying for my brother, that some day they may find a cure and he will come back to me and be my brother, that some day we may be able to build a life of happiness, instead of worry and sadness, at least I know that if God should decide it’s time to bring my brother home, HD will be in the past in my lifetime. I thank God and the researchers for giving me that.

Joan E.