Gaining the Courage to Speak Out, Part 2

By Linda Ingle
February 20, 2011

Today is a day I have dreamed of. I am sitting in the sunlight surrounded by the majestic beauty of the giant Sequoia trees in Big Trees State Park in California. The park ranger and his wife are dear friends of mine. They invited me here understanding that at this time in my life it would be a wonderful place to reflect, rejoice and begin the journey towards the next chapter of my life.

Linda rejoicing among the giant Sequoia trees

You may have read Part I of "Gaining the Courage to Speak Out". In it I told my story of how Huntington's Disease has affected my family. I lost my father and both my siblings to HD along with many other family members.

I decided to be tested in 1987, at the age of 33, with the DNA Marker test. This was before the discovery of the gene and the definitive DNA test which became available in 1994. I was quite confident that my test result would be negative due to the fact that the age of onset for HD in my family is quite young. My sister had juvenile HD and my other relatives all developed symptoms in their early twenties.

My DNA was compared to that of my affected brother and a few of my healthy relatives. Blood samples from several relatives were necessary at the time of the Marker test. There was no knowledge yet about the CAG repeats which we know today are indicative of whether or not a person has the genetic mutation.

The eternal wait

I waited for what seemed like an eternity to learn whether or not I would be free of HD. When I was finally told my result it was a devastating blow. Instead of being freed from the threat of HD, I was told I had an 84% increased risk for having the gene. To me that meant an almost certain death sentence and an increased risk for my children of having had inherited HD.

I changed very drastically after being told that information. My mother said the light had left my eyes. She said I was not the same person. One of my closest friends has said that the test ruined my life. She also thought I was not the same person. I used to be so light hearted and positive but it was almost impossible to remain that way after seeing what HD did to my brother and sister.

On the outside, to those who didn't truly know me, I appeared healthy and "normal". But on the inside I felt defective and had completely lost my self confidence. I struggled to find some joy in life and to try to become more like my old self again. I tried to focus on believing that I was going to be fine and that somehow I was in that 16% negative category.

But much of the time I was sure I was showing signs of the disease. If I tripped, if I dropped something, if I had a twitch, if I said something stupid, if I made a mistake at work, I believed that it was probably an early symptom. For all of these years I have thought that way. It has become a part of me and the way that I think about myself.

Even during the good times, when I was completely focused on whatever activity I was absorbed in, I believe that HD always lurked in the back of my mind. So much of my life has revolved around this devastating illness that I can hardly believe that suddenly it is no longer a threat. I feel like I can't quite absorb this knowledge yet though it definitely is what I have wanted more than anything in the world.

Unbearable uncertainty

What led to this sudden knowledge was reaching a point in my life where I simply could not stand the uncertainty. I was stressed out beyond belief, having relocated a couple of times, started a new and very challenging job, developed another possibly serious health issue and learned of another divorce in the family. I just couldn't cope anymore.

I took a leave of absence from work to try to get myself together. During this time, I contacted Robin Bennett at the University of Washington Medical Center. She is the genetic counselor there and a very knowledgeable and compassionate person. I met Robin 23 years ago when I went through the Marker testing. She assured me that the knowledge we have today and the definitive gene test was vastly superior to my previous test. It was an encouraging conversation.

Dr. Goodman reaches out

I was also receiving support from Dr. LaVonne Goodman who leads the HD support group that I have been attending in Everett, Washington. Dr. Goodman was an inspiration to me and actually visited me at my home to discuss my concerns. I have tremendous respect for Dr. Goodman and greatly appreciated her reaching out to me. Her feeling about the 84% test result was that it was beyond inconclusive.

I felt very hopeful that I could proceed with the testing and that for me it would be better to know for sure one way or another.

Both Dr. Goodman and Robin thought it looked promising for me due to the fact that HD strikes quite young in my family. It was encouraging that at 55 years old I showed no symptoms whatsoever. I made an appointment with Robin to speak with her in person at the UW Center of Excellence.

Robin explained that when I had the "Marker" test they compared my DNA with that of my HD affected brother. Apparently our linkage matched for the most part and it was considered to be equivalent to an 84% match. Actually in the DNA world, that 16% which didn't match was very significant. It most likely was what is referred to as "crossing over" or recombination. It is when a stretch of one chromosome changes place with a portion of its corresponding chromosome.

At the end of my appointment Robin said I could have my blood drawn and be told my result the next week. For just a moment I hesitated but then said, "Let's go for it." With tears in my eyes I had my blood drawn. I prayed silently that my children and I would be released from this burden. I was terrified but determined to end the uncertainty.

Fear and anger

On Tuesday, September 7th, 2010, my very dear friend, Nikki, joined me at the UW medical center. I was so nauseated and afraid and also angry that I had to go through this again. I was trying to brace myself for hearing bad news once more. I told myself there are no fairy tale endings and to prepare for the worst.

At 1:00 pm we were called into the examining room. Soon Dr. Thomas Bird and Robin Bennett came into the room, the same two people who told me my result 23 years ago. Dr. Bird sat close to me, looked at me and told me "Linda we have good news". He proceeded to tell me I tested negative. I was so shocked and relieved. I got down on my knees and just sobbed. Nikki embraced me and we cried together. Robin even cried and Dr. Bird just beamed.

The best possible news

I could not wait to let my children know they were free. My son was in New York and had no idea I was going through the testing process. When I got him on the telephone I asked, "What is the best news you could possibly hear?" He said, "You don't have the gene?" I was able to give him the news I had dreamed of. I told him that indeed I did NOT have the mutated gene.

My daughter knew I was being tested and as soon as she could she called me to learn what I had found out. I could hear the nervousness in her voice when she asked. I let her know that we were free!! She cried and though she had never seemed that worried about HD, I think this knowledge was tremendously relieving to her.

Well tomorrow morning I will be flying back home to Seattle and getting back to my regular working routine, only now without the burden of HD. I can hardly imagine what it is going to be like. I have so often wished that I could live like other people do. I wondered what it would be like to just live, to have a healthy family and to never have to worry about a genetic illness. Now at least for the rest of my life I can live that way.

I will always grieve

I will always grieve over the loss of my siblings and my father. I am sure I will also grieve over the years I have lost and the decisions I have made due to believing that I would not be healthy for long. I imagine what it would have been like to be told I was negative the first time I tested. How wonderful it would have been to be freed at a young age. I can only imagine how different my life would have been.

Incredibly fortunate

But I am incredibly fortunate that this time around I received the result which I have dreamed of. I am extremely grateful and so very relieved my children will never have to worry about HD, never even have to get tested and can have their own children without giving it a second thought. This is my dream come true.

My intention now is to advocate as much as I can for all of us in the HD community. Never before have we had so much knowledge about HD, so many brilliant researchers and scientists looking for answers, and so many advocates determined to put an end to the suffering of HD families. I hope and pray that one day all of us will be able to say that we are free from Huntington's Disease.

Read Part 1.

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