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Wednesday, August 18, 2010

Variant of Uncertain Significance- Not so Insignificant!

Today I write with a heavy heart. My mother's bestest- bestest girlfriend from childhood is quickly losing her battle with cancer. Lynda has been my mother's friend since they were 10 years old. They had sleep overs together, learned to drive together, dated together, were each others maid of honors, raised their children together, became grandmother's together and have lived fully a life of loyalty and true companionship to one another. And we are losing her! And I ache and I mourn deeply a life without her.

Lynda was first diagnosed with breast cancer in her 30's, she was treated, and then re-diagnosed with a second breast cancer in her 40's, she was treated, in her late 50's she developed another breast cancer, underwent treatment, had a BL mastectomy, ovaries out, and was doing well. Obviously three separate breast cancers was concerning to her and anyone. She was tested for BRCA mutation, and was told it was a variant of uncertain significance. Obviously, going through all these cancers had taken a toll on Lynda and her family. We all just took big deep breathes each time she had a doctor appointment. It was about 9 months ago when Lynda was then diagnosed with a Sarcoma of the lung, she had a one whole lung removed, underwent multiple testing and screening, and all were hopeful that the cancer would be gone, but of course this was now a new cancer and her fourth diagnosis. WTF!

Lynda was recovering at home for a few months, and doing ok, she was able to enjoy her grand-daughter and kids, she went with my mom for their rides and shopping, but she was not herself.
About a month ago, Lynda started having some difficulty talking, and of course her family and all were concerned. It was confirmed that disease had spread to her brain. Tragic! She underwent whole brain radiation, and within two weeks of finishing she continued to not do well. After further testing it was then confirmed her disease was pretty much everywhere. It still makes me speechless. About three weeks ago, Lynda's doctor's basically told her family that there was nothing else they could do for her as far as treatment. She should go home and be with family. They also informed them that the uncertain significant genetic results that they had received ended up being found to be BRCA 2 +. The MD had said this was her first patient this has ever happened too. That a genetic result overtime and with greater research ended up being re-categorized to a BRCA mutation. Lynda was at the time upset, and of course worried about her girls, but was also slowly shutting down; her daughters were not overly surprised, but this now meant something more as far as it affecting them genetically.

So this is what surprised me about Lynda's the news. That the results of variant uncertain significance means it is unknown at this time if the genetic sequence is at all with disease risk, it is not yet classified. These variants are studied overtime and this is how genetics are being brought about and found, with time. In case, her genetic variant with detailed research has been re-categorized, so she is now in fact BRCA 2 +. Her daughters were both tested last week, as well as Lynda's sister. By the way, Lynda's mother died of Pancreatic cancer at a young age.

Lynda was transferred today to a hospice home after her daughter's and husband lovingly and selflessly care for her at home for the last month. She now lays comfortably surrounded by an outrageous number of friends and relatives who sit vigil at her side. My mother, her best friend, her person, sits too.

I feel blessed because my husband brought me to see Lynda on friday when she was alert and aware of things and people around her. She asked me about my surgery, how I was feeling, we all laughed about the times we had as kids growing up with them as our crazy mothers. We filled the room with great memories and laughter, and I hope that gave Lynda a sense of peace and joy. She was quiet most of the time, but she smiled and laughed. She stared at me many times, just speaking with her eyes. I know she knew she was leaving us soon, and let me tell you she is a fighter, but her spoke to me with calmness in her, she did not look scared really. I know however, she wanted to live a long life with her kids, husband, grandchild and friends. This was not in the plan.

I remember when my brother died Lynda was the one who took charge. She just always knew what my mom needed. Not only did she help raise all of us through my brother's 12 year battle with brain cancer, but she knew how to be my mother's friend through it all. They talked multiple times a day and that was so normal for them. So when my brother died, I had to come home from college, and I had nothing appropriate for a wake or funeral. Lynda brought my sister and I to the mall to find a dress. (she also helped with prom dress shopping as well). I was just not in to it, and we decided to leave, she grabbed my hand, brought me to her closet and said try this on, you can one of my dresses. So there I was, 21 years old at my brother's funeral, wearing my mother's best friends black dress. I am so grateful for that dress and for her ability to make things easy and right.

I could truly write forever about Lynda, and really think I should right a book about my life and the people in it. You would never believe the drama and loss that we have had, but we have also prevailed and we have remained a strong, bonded group of friends that we call family. I am devoted to all of them for life.

What does this all mean ? What are the chances of my mother and her best friend from childhood both being BRCA positive? What are the chances of their daughter all being positive as well and being faced with the same fears, decisions, statistics? It is just mind boggling.

So as I sit hear in the silence of my home, covered in tears, recovering from a prophylactic bilateral mastectomy, BRCA 1 +, I breathe a sigh of relief and fear. Relief and gratitude that I knew at a young age my risk, my genetic predisposition, and that I was able to make a choice to fight this disease and do what I can to prevent it from attacking my own family. A sigh of fear because I wonder if what I've done is enough. Is what I've done going to really keep cancer away from me. Will find another place to go, another organ? It just makes me scared. Is there ever enough that one can do. I guess I just have the peace of knowing I did whatever I could do at this moment and time. And what will be, will be!

So tonight I dedicate this blog to all those affected by this disease and to all those who have fought like hell to beat it, but did not! Their strength and courage will always guide us through and inspire us to live life every second that we can.

I love you Lynda and will remember every moment we had together and for teaching me about friendship, loyalty, laughter, motherhood and always dressing for success! :-)

Thanks for listening!
Kim


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