Genetic Testing


By Kristen Knott

Written May 21, 2014

I have an appointment today to receive my genetic testing results. It has been 3 months since I provided the necessary blood work for the testing. The Genetic Counselor at Juravinski had informed me that results would likely take about four months. We discussed my family medical history and she explained that there were two genetic strains they could currently test for and they were BRCA-1 and BRCA-2. Both genes come with a higher propensity to get other forms of cancer and can be genetically passed to children. I have been preoccupied with this appointment since I received the call for booking. Does it mean something that the results are in early?

I desperately want the results to be negative for BRCA1 and BRCA2. I would hate to have to call family today and provide them with the bad news. Then the worry would begin for both themselves and their children. I feel sick thinking about this. I am tired of surgeries and blood work, yet I have already decided if I am indeed BRCA1 or BRCA2 positive I will have my ovaries removed. I want to avoid cancer in any form ever coming back in my body.

I immediately tear up as I check in at the clinic reception. I am trying to gain my composure. I am being silly, I think to myself, everything will be fine. The odds of me being positive are very slim. I sit waiting now in the room where I will receive my results. On the way into the room I lock eyes with a women who is probably 10 years older than me, admittedly it is hard to determine a bald woman’s age. She is wearing a hospital gown and in a wheelchair, I have to look away. It is too raw, too close for me. It fills me with sadness. Her two beautiful daughters sit on each side of her. They all seem happy and lost in chitchat. A happy family anchored around a sick mother.

I have not told my daughters that I am here today. I didn’t want them to worry. They have enough on their plate and have seen enough this last year. They see their mother with hair and regaining her strength and see her body slowly reshaping itself. I do not want to derail this vision in their heads.

My husband had to travel today and is waiting by the phone for me to call. My parents, both sets are waiting for me to call and my sister-in-law is waiting for me to text. Although I sit here alone, I know I am not alone. I can feel the love and good energy and prayers.

When the resident and doctor come in there is an awkwardness between the three of us. I am trying to read their body language. Why did they seem apprehensive? The resident introduces herself and the doctor I have already met during the original consult. The resident had a file and clipboard in her hand. She began to walk me through the results and proceeded to explain I was negative for the BRCA1 and BRCA2 genes. I began to sob.

I apologized to them both. “Thank you” I said between tears. “I was clearly more worried about this than I realized”. They both sat calmly while I cried and tried to compose myself. It took me a few minutes.

The resident continued to explain the generic results, she ended with, “Basically there is no genetic reason why you got cancer. Your family, your sisters and your daughters do not need to be tested. Please update us if anything changes with your family health or if science changes we can test later based on further advancements.”

I then signed a release form so that other family members could have access to my health records at any time in the future. The entire time tears kept rolling down my face. I was trying to listen intently but it took all my energy to keep it together.

I thanked them and left. I grabbed a few tissues at the reception area and as I walked down the hall and out the doors I phoned Jon. As soon as I heard his voice I started crying. ” Hi”, then I managed to say ” I am crying because it is good news, it’s negative”. There was silence for 10 seconds and then Jon said “Oh thank God” and then he was trying to compose himself on the other end of the line. He proceeded to share how worried he had truly been. I walked towards the parking garage tears still rolling down my face.

I then called my sister in Calgary and informed her that the results were negative. She cried with me as her sense of relief overwhelmed her. My sister just had her second child May 3, so Austin is not even a month old as I write this. If I had been positive she would have had to wait 6 months after she stopped breast-feeding him to be tested herself. That would have been a year and half from now. Waiting and worrying the entire time would have been pure torture for both of us. Anyways we don’t need to go down that road thankfully. The phone calls continued, as did my tears. I am so relieved that the results are negative and now I can share the great news with my daughters and family.

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