Deciding To Go Ahead With Predictive Testing

by Irina Szoorin , Member of the NSW Huntington's Disease Association

Predictive testing is a new term in the medical field of genetic illnesses. Very simply put it means to genetically test a person, not yet presenting any symptoms of the genetic disease, like Huntington's Disease. It is a very different consideration from the genetic testing of a person already displaying a number of the physical and/or behavioural symptoms. In this case the person and his or her doctor are looking to confirm the diagnosis of the presentation of the symptoms.

Some of the reasons why a person would consider predictive testing are:

§          the person would like to start a family,

§          the person would like to take out an insurance policy without incurring expensive loadings

§          the person would like to apply for a job that would entail long-term high level of responsibility

§          the person would like to eliminate the possibility of having the disease in their immediate family.

 In my case it was the last reason. On the whole people are optimistic and even though they prepare themselves for a positive result of having the HD defective gene, most of the above reasons are framed with the assumption that a negative result will happen. If I am gene negative I can go ahead and have children naturally, I can take the highly responsible job, etc.

 My family migrated from a communist eastern European country to Australia just after WWII. The person who carried the HD gene in our family died during the war and our family lost touch with their extended family. This meant that we were ignorant of the existence of HD in our family. My mother was seventy and in the advanced stage of Huntington's Disease when, through genetic testing, we discovered that she had the defective gene. The physical symptoms, we now recognise as HD related, did not present until she was in her late fifties, although she suffered very badly all her adult life with behavioural problems, delusions, hysteria, aggression and abusive behaviour.

 By the time my mother was diagnosed, I already had children. When I was referred to the genetic testing unit in the hospital and considering predictive testing for myself I presented with no symptoms, especially no behavioural signs. My main reason for going ahead with predictive testing was because I was so different from my mother and perhaps that indicated that I did not have the defective gene and I could clear my family nucleus from the threat of HD. The decision was not made lightly and I spent many very emotional days swaying from one extreme position to the other. I felt extremely vulnerable and making a decision as important as this was impossible. At the same time I was caring for my very ill mother and I could see the symptoms of Huntington's every day. Every day I could see the anger and frustration that she was faced with. She was refusing to take medication that would lessen the involuntary movements and as we later discovered, the severity of the delusions and other behavioural problems. This was not a good time for me to be making a decision about predictive testing.

 Family members were very supportive and were saying all the 'right things'. My husband said that it was not possible for me to have the defective gene. He stressed that even if I had the defective gene, that I was not the same person as my mother and the disease would not manifest itself in the same way. Of course we were concerned with the physical symptoms, but having watched my mother deteriorate over the years I feared the possibility of displaying the psychological symptoms. My husband was the main person who I looked to for advice and comfort. After all he had a genetic stake in this too - we had a desire to clear three primary school age children and two daughters of childbearing age of HD. It was with a very heavy heart that I agreed to have the genetic test.

The months that followed while waiting for the result were long and arduous. I continued to oscillate between being sure that I was not gene positive and sure that I was. I was very emotional and could not think of anything else. I thought that I could cope with the result, especially the one that I did not want. I would be able to summon my strength and 'deal' with the news somehow. Nothing could have prepared me for the level of emotional grief that followed the gene positive result. I knew what all the issues were prior to receiving the result, but they were so much more relevant and immediate now. Within a month of receiving my result I booked myself in for psychological counselling sessions and it took three goes before I found the right counsellor for me. Over the last two years my counsellor's support has been wonderful and it meant that I could discuss with her all the issues that my husband or close friends felt uncomfortable and unable to discuss with me. Even with the help of a counsellor I went through a very long period of intense grief that I would compare to the grief that follows the death of one's child.

The issues engulfed my thoughts and would not let go. My thoughts were morbid and I was self-engrossed. What would be the time of onset of the illness and how would my family cope? Would I live too long and experience the frustration, the loss of autonomy, the disfigurement and loss of cognitive function that my mother was now experiencing? Would I become a person that my family would find 'difficult'? Would my children interact with me in a different way? Would they resent me for loading them with all the responsibility of caring for me and for siblings? How would they cope with the fifty-fifty chance of becoming ill? How would they be able to cope with the possibility of not being able to have children naturally and without deep consideration of the possible consequences? There are alternatives available, such as PGD, or the donation of egg or sperm and implantation through the IVF program, or the decision to have children despite the risk of HD. How would I be able to tell them about the genetic illness in our family in a way that they would be able to understand and yet not affect their love of life and sense of fun? Would they see themselves, as I now saw myself, as damaged goods and not worthy of love?

 The positive result not only changed the way I saw myself, but also the way I saw my relationship with my children, my friends and my husband. I was engrossed with grief, but I could not discuss any of my issues with them, because they seemed unable to confront these issues for themselves and they were not ready or needing to do that. I was alone in my despair and I felt isolated by it. I isolated myself to enable me to think and grieve without hearing consolations from others that were not appropriate or trivialised my emotions. I needed to feel that my feelings were validated, and I found that I was the only person who could do that. My temporary isolation was for my protection.

 My counsellor gave me very good advice: to put aside, visually in a drawer, all the issues that were too painful or too difficult, and that we would bring them out one by one at a later stage. I took her advice, but the grief and looking after my very ill mother became too great a burden for me and I became very ill. Although I was in a lot of pain, my illness became a welcomed physical and emotional release from my constant obligation of caring for my mother. Somehow I managed to get my mother into a nursing home and I was able to address my ill health.

I have come through my grief and I am well again and my mother is well settled in her nursing home. I have learnt a great deal during this time. I have learnt that it is highly likely that most people going through predictive testing will go through similar levels of grief. I think that there is no good time to go through predictive testing. Most people having predictive testing would have someone around them in their family going through the more serious stages of the disease. It is not appropriate for them to try and deal with the emotions of seeing a family member deteriorate and try to deal with the possible result that they will also become ill. The human psyche is not made to withstand the news that they are ill with a disease that, at the moment, has no cure.

If you think back to what was developmentally the most turbulent time of your life, most people will say that it was their teenage years. This is because the person is developing into an adult and questioning all around them and also developing their own intrinsic personality. This is what also happens to a person who has tested gene positive for HD. It is then that you need to arrive at a new way of seeing yourself. A new persona living with HD. This took a great deal of thinking work on my part and with the help of a counsellor (she is an oncology counsellor) to arrive at a point in my life where I can feel that I can live with the disease and show my children by example how to overcome each phase and personal dilemma that the disease may present.

 
Our lives are based on a positive and optimistic basis to our future and our future generations. If we take the basis for optimism out of our lives then we impose a frame of mind on ourselves that is completely against our nature. How are we to cope with the devastating news of being gene positive with a disease that as yet has no cure? We are not made to deal with such devastation. We are at our most vulnerable when deciding whether to have predictive testing and are very likely to ask advice from a good friend, a partner, a genetic counsellor, or a doctor. These people have the opportunity to encourage the person to protect their right 'not to know' and should at the very least encourage postponement. We all have a right to live our lives to the full and not know how we will become very ill with a degenerative neurological disease and die. We have an inherent right to be optimistic about ourselves, or in the case of Huntington's family members, at least to retain and preserve a very precious iota of optimism.

 Gateway, Australian Huntington’s Disease Associaiton(NSW) Inc., May/June 2002