Saturday, April 14, 2012

Closing the Loop

You may recall that very shortly after my mother died (before we knew that I was BRCA positive), my father, my sister and I wrote a detailed letter to her oncologist.  Although we honestly didn’t think the medical treatment he provided to her was lacking, we certainly couldn’t say the same about the “family treatment” he provided to us.  In our grief, we felt compelled to tell him so.  Much to our surprise (and to his credit), he responded to our letter, which, we all agree, must have been difficult for him to do.

Recently, my sister discovered that he maintains a blog.  Social media junkie that I am, I took a spin around it and, when I found a post that referenced BRCA mutations in the context of the use of MRIs, I couldn’t help myself…I had to leave a comment: 
JanetheWriter:  With regard to BRCA mutations, what recommendations/suggestions do you offer to families of breast cancer patients about genetic counseling and testing for these mutations?  Thank you.
Dr. It’s-All-About-the-Tumors provided this detailed response:
As a general statement, if there is a question in a family of possible BRCA mutation, then it is an excellent idea to speak to an Oncologist or Genetic Counselor for guidance. A one hour visit can save lives. The general recommendations are: If there is a family history to suggest a risk for the BRCA mutation (pre-menopausal breast cancer, multiple breast cancers, any male breast cancer, ovarian and breast cancer at any age, Ashenazie (sic) Jewish descent) then the starting place is to test someone in the family who has (or had) one of these cancers. Only if that person is positive should other family members be tested. Then everyone who could have inherited the gene (siblings, children, even a young parent) should be tested for that gene. It is normal practice to test each person in series to follow the transmission of the gene through the family. That way if a Mother and Father do not have the gene, then their children do not need to be tested. In Jewish families some experts recommend testing for all 3 common mutations in all family members that could have inherited the gene, not just the detected mutation. Children do not need to be tested until they are 18 – 21. If the family member who had a cancer that might have been related to the BRCA mutation has died without being tested, then the decision is harder. It is reasonable to test children of that person and siblings. Do not forget that a person with the mutation has a 50% chance of giving it to each of to their children, so finding it or not in one person, does not predict their sibling.
Once again, I couldn’t help myself and continued the conversation with this:
Thank you for this information. In fact, I’m familiar with much of it because my mother — unbeknownst to any of us during her lifetime or illness — was (we surmise) BRCA+. Although her sister also had breast cancer, genetic counseling/testing, as far as we know, was not discussed with her.

Only after she died from TNBC [triple negative breast cancer] did my sister and I (of our own accord) pursue genetic counseling and testing. Indeed, although my sister is negative, I am positive for one of the founder mutations common among Ashkenazi Jews. Thank goodness we took the initiative…
He responded with this:
Thanks. While I am certain it was tough to learn that you carry a gene which puts you at risk, it is empowering to have that information to protect yourself. Let me know if there is more information which might be of assistance to you.
Seizing the opportunity to get something off my chest (no pun intended!) I wrote back to Dr. It’s-All-About-the-Tumors:
Thanks. In the last year I had all the prophylactic surgeries and am pleased with my decisions. My mother was a patient of yours, however, so please be reminded that BRCA mutations can be present even in families where BC onset is post-menopausal and neither BC nor OC is rampant — or even very present at all. A great resource that you may or may not be aware of is FORCE (www.facingourrisk.org), a national organization devoted to providing resources and support for BRCA positive individuals and families, as well as others at high risk for breast and ovarian cancer. Thank you again for engaging in this conversation.
And with this reply from him, our conversation came to a close:   
Thanks very much for the link and the reminder.
As I’ve said often on this journey, if I can use my experience to raise awareness—especially among those who should be most cognizant about BRCA mutations and their nuances—I will be satisfied that some good has come from my travels along this bumpy road.