Monday, May 20, 2013

Serendipity


I’m new to the world of blogging, but I suppose it would be bad form to have two posts with the same title.  In a previous post I created the title “I Don’t Believe In Coincidence”.  That is still true and I would like to use that title again, but I'll refrain.  I’m not sure that serendipity is the correct word to describe my lack of belief in coincidence, but I’m also not sure there is one single word that can encapsulate that sentiment.  What I lack in vocabulary to describe my worldview can be compensated for by an example.

I’ll provide a short backstory so that readers don’t have to retrace their steps through a year of blogging.  As an early step in the diagnosis and development of a treatment plan for Cathy, genetic testing was done to determine if she was BRCA positive.  The results showed that she was positive for BRCA1 gene mutation and negative for BRCA2.  For Cathy, those test results meant that she would have a bilateral mastectomy with removal of all breast tissue to guard against the high likelihood of a recurrence of breast cancer.  It also meant that at some point in the future her ovaries would be removed because a mutation on the BRCA1 part of the genome is also connected to ovarian cancer.

Both of Cathy’s parents had genetic testing done, as well.  While spontaneous genetic mutations occur, it is most likely that her mutation was inherited.  As it turns out, Cathy’s mom carried the mutation and passed it on to Cathy.  Cathy’s mom has also been trying to develop her own plan for protecting herself against breast and ovarian cancer.  As a first step, Jayne had her ovaries and fallopian tubes removed in April. 

Pathology on that tissue revealed high grade, aggressive tumors in one ovary and in a fallopian tube.  The tumors were contained within the organs, meaning that no further treatment is necessary.  According to the doctor, the timing of her “prophylactic” surgery made her prognosis excellent.  Had the surgery been performed a month or two later, the cancer would have likely spread and required a much more extensive treatment plan.  This, my friends, is what we call serendipity or dodging a bullet - definitely not a coincidence.  

Jayne had remembered that her grandmother had died of some sort of cancer of the reproductive system, but didn’t really know more details.  She requested a copy of her grandmother’s death certificate, which revealed that the cause of death was ovarian cancer that had spread throughout her abdomen.

What does all of this mean for future decisions?  Jayne will most likely have a prophylactic mastectomy in the near future.  Cathy is working with our geneticist to balance the risk of ovarian cancer with the threat of bone loss that accompanies the removal of the ovaries.  The degree of bone loss is greater the earlier in life a woman has her ovaries removed.  Ideally, Cathy would keep her ovaries until she is 41-42.  Much learning and decision making to come…

We are often asked what this means for Clara?  Will we have her tested?  My answer to that has been the same since the unfortunate time we have had to beginning considering that topic.  Medicine is changing at an incredibly high rate of speed, particularly in the area of genetic implications in treatments.  It is my hope that by the time we need to consider that Clara should be protecting herself that a whole new realm of possibilities exist for diagnosis and treatment of genetic mutations.

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