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The Importance of Genetic Testing

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By June Stokes

genetictestingpic.jpgJune Stokes was diagnosed with stage IV ovarian cancer in April 2000. She was told she had 12-18 months to live. June has been cancer free for 11 years, and hopes her experience will offer comfort and peace to those who are beginning their journey with (or after) a diagnosis of cancer.

In June 2001, 14 months after my ovarian diagnosis, my daughter, Lisa, told me that she found a lump in her right breast. She called the same day and got an appointment with Dr. David McCoy, an oncology surgeon. 

Dr. McCoy did a needle biopsy. The following day, I anxiously awaited Lisa's pathology report. She called around mid-morning and said it was benign. Dr. McCoy would do a lumpectomy the following week.

The lumpectomy was performed and the report would be back the following day. 

As I drove into my driveway the next evening, I noticed that Lisa's car was parked in front of my home. I walked in and asked, "How bad is it?" 

She started crying and I grabbed the paper and started reading the pathology report, which stated, "duct carcinoma" and "differentiated carcinoma." Unable to control my emotions I ran through the house, room to room, crying hysterically while clutching the report.

We knew what we had to do
I went with her on the initial visit with Dr. Howard Wold. He told us we were the second mother/daughter patients he had ever treated. When I looked in to my family medical history, I discovered that the other mother/daughter patients were first and second cousins of mine.

It was then that I knew we had to do genetic testing.

Dr. John Kavanaugh became my oncologist. He was very pleasant and I was at ease with him in minutes. He asked me about genetic testing. I agreed it should be done, especially with Lisa and me both being cancer patients. 

It was then that we created a family medical pedigree, a document similar to a family tree. 

Genetic testing staff

I had an early appointment in February 2006 and after seeing Dr. Kavanaugh, I was asked to wait and the geneticist would come get me.

This was the day I met Molly Daniels, my geneticist. She was soft-spoken and very professional. She explained to me what the genetics is about and gave me a lot of information to review. When asked if I was ready to have the lab drawn, I said yes. 

On April 19, 2006, Lisa and I, along with her two daughters, went to meet Molly again. I was nervous, even though I wanted to know the results. 

Molly informed me that the test was positive and we reviewed the results from the Myriad Laboratory - "mutated gene 5149del4-BRCA-1." 

We discussed the options available and I decided I would have a simple bilateral mastectomy, which would remove the breast tissue.

As we left her office, Molly said, "Remember, nothing has changed." 

I loved that closing remark. I could hear her tone and expression, and she was so genuine.

The mastectomy was performed and I came home after three days.

I had a prescription from Dr. McCoy to get the double prosthesis. It was the same as purchasing a bra, with the exception that I also had two breast prostheses to insert in the bra. 

No one would ever look at me and think, "Gosh, she must have had a bilateral mastectomy." You wouldn't know unless I told you. 

Lisa had the genetic testing at MD Anderson in August 2006 and we returned in October 2006 to learn she was positive. Karla, my other daughter, had the testing done near her home in Godfrey, Ill. She, like Lisa, tested positive. 

Karla had a bilateral mastectomy with reconstructive surgery. Lisa opted to be part of the high breast screening program provided by MD Anderson for the first year and has a mammogram every year on her remaining breast and an annual MRI. There has been no recurrent disease. 

With the positive results, I have been given the means to be an advocate. There is a certain relief, even though my daughters are positive for the mutated gene. 

We can use preventive strategies and stay ahead of breast/ovarian cancer with mammograms and annual pap smears.

Thankful

I'm thankful for all the professionals who work so diligently to further research in genetic testing.

I hold a special place in my heart for Marlene Lockey, the social worker in Palliative Care, and Molly Daniels, my geneticist.

I'm also so grateful that Dr. Howard Wold, Dr. Andrezj Kudelka, Dr. Michael Fisch and Dr. John Kavanaugh encouraged me to consider the genetic testing. 

May God bless everyone who works in the field of treatment -- not just for the cancer, but also for the whole patient. Indeed, there is such promise for hope.

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