A Long Time Ago

We wanted to know. It was 1991. If Karen’s Huntington’s Disease gene linkage test was positive, we would plan our life together accordingly. If the test was negative, we would be relieved and plan our life together as any other twenty-something couple.

We met in the mid 1980s and were married in 1989. Karen’s paternal grandmother passed away from Huntington’s Disease (HD) a few weeks after we met. Karen told Tim about her grandmother’s disease at that time and explained that she was at risk to develop the devastating disease. Karen’s father was diagnosed with the disease prior our wedding.

By 1991 Tim was finishing his first year of pediatric residency. Karen was working in the accounting department for a small business. Tim was trying to decide what type of pediatric medicine to enter: community, academic or administrative. Both of us were eager to start a family. We often joked that Karen wanted to have a family of children the size of a baseball team. Tim preferred a basketball team family size. We were worried about the possibility of HD. If Karen was gene positive, she would likely develop the illness in her early 40s progressively crippling her mind and body over a 15 to 20 year period. Both of us wanted to know if Karen would develop the disease so we could plan our family, our work, and our life together. The odds of a positive test were fifty percent.

Prior to the discovery of the mutant Huntington’s gene in 1993, the genetic testing process required the person being tested (Karen) to ask relatives to send a blood sample to the testing center (John Hopkins University in our case) so the laboratory could compare the relatives’ genetic material to determine if Karen had the gene. The test was known as a genetic linkage test. Karen also requested and received genetic material from her deceased grandmother’s brain which had been donated to the Harvard Brain Tissue Resource Center in Boston to help with her own testing. We elected to travel to Hopkins in Baltimore from Central Virginia for two reasons. The primary reason was to receive required counseling sessions before and after the test. The second reason was the testing procedure was part of a medical study and was free. We could have paid approximately one thousand dollars and had the test done at a local university with no required psychological testing or counseling. At John Hopkins, the pretest time commitment was one year. The post test commitment was several years in length involving neuropsychological tests, MRIs and PET scans. Tim postponed deciding on his medical career path by spending a year as a chief resident while we underwent the pretest screening process.

We received a phone call from the folks at Hopkins that Karen’s HD test was complete. We scheduled our appointment to learn the result. Ironically, the appointment date coincided with date of closing of our first home in July of 1992. We were able to close on the house the evening prior to the appointment. We traveled to Hopkins the next day and received the news of the positive test. The Hopkins staff informed us of the test result in an extraordinarily compassionate manner, though each of us sensed their sadness. We stopped for lunch on our journey home and shed some tears and had some laughs. We called our family members and relayed our sad news. We arrived at our new home to a few friends and family members sitting on the floor having a few cocktails. Everyone was sad, but we were still all the same folks.

We had three children in the next six years. The plan was to have two children, but the first two were so much fun, we decided to have a third child. He has not disappointed! Karen quit her job after the test result to concentrate on the new house and the subsequent raising of the young family. Tim joined a local general pediatric practice. We were cognizant of our HD status always. We occasionally discussed our status and plans with friends and family, but we didn’t dwell on the disease. We saw Karen’s father several times a month. He passed away in 2004 from Huntington’s Disease.

Over the past ten years we have gradually become more involved in the HD community. Fifteen months ago we began to try an organized an HDSA Virginia chapter. It has been slow going, but we remain determined. We participate in HD medical studies. As part of the chapter starting process, we told our two older children that Karen was gene positive. They were upset, concerned and understanding at the same time. HD will always remain a part of our lives. We don’t regret learning about our HD status. We have lived our lives somewhat differently than if we had been gene negative, but we believe we have successfully adapted. We had little choice.

Tim and Karen