what might knowing change?
What does this (from a recent article in the Forward) mean?
…aggressive prenatal genetic testing has effectively eradicated devastating conditions such as Tay-Sachs…
a friend knows
I asked my friend Jane Herman who has the BRCA mutation why it is important to know.
I understand in your case, as an adult, knowing you carry a BRCA mutation, you have a choice to make.
But, let’s say either:
- You’re about to get married, or,
- You’re about to have children, or
- You’re already pregnant…
what would “knowing” do to change your behavior?
I am aware of at least one couple that did not have themselves tested for whatever genetic diseases they might be carrying because they had already decided that they would carry the child to term.
In her usual, highly thoughtful and deeply felt manner, she responded:
These are the very tough and emotional questions that many of my younger BRCA sisters deal with all the time. Although I cannot speak to the Jewish genetic diseases that couples get tested for (BRCA mutation testing is not among them), I can tell you a bit about why some people choose to find out about their BRCA status as young adults.
1. Because one of the hallmarks of BRCA related cancers is early onset (although that is not the case in my family: my aunt was diagnosed with BC at 68, my mother at 76, and their father in his late 80s with prostate cancer), surveillance, too, begins early, generally at age 25 — both for those who know their BRCA status and for those who do not, but whose family history includes hereditary cancer. In an ideal world, my sister and I would have begun surveillance at 25, but in my case that was in 1988, before the BRCA genes had been identified.
2. Advances in cancer genetics are moving at lightning speed and something called pre-implantation genetic diagnosis (PIGD) is now possible for couples where one of the partners has a BRCA mutation. I’m not a scientist, but basically embryos are created outside the mother’s body (using the mother’s eggs and the father’s sperm), they are tested for the presence of the known BRCA mutation, and only those that do not include the mutation are implanted. Children from such a procedure are spared the need to test and deal with the potential consequences of being BRCA positive. (I do not know if any of the costs associated with this procedure are covered by insurance.) Given the rate at which advances are being made in this field, we’re all hopeful that the younger generation of mutation carriers will have better options than we do (which are better than those available to our mothers, grandmothers and tantes) and that eventually, gene repair and other scientific breakthroughs will become a reality, not just for BRCA carriers, but for all types of cancer and other diseases, too.
3. It is possible to extract and freeze eggs for later use so that a woman can have an oophorectomy by age 40. It is recommended that BRCA positive women do so by this age because removing the ovaries (and thus the estrogen upon which some breast cancer tumors feed) by 40 also can decrease her risk of breast cancer by 50%. However, the viability of embryos created using frozen eggs generally is not as good as those created using “fresh” eggs. Nonetheless, I know of a few women in their late 30s and early 40s without partners who have chosen this very expensive and not-covered-by-insurance option.
4. Some early research now indicates that ovarian cancer actually begins in the fallopian tubes and some surgeons will remove just a woman’s fallopian tubes, which preserves her fertility. This research is preliminary, however, and long term effectiveness in preventing ovarian cancer is not known. In addition, because fertility is maintained, unlike an oophorectomy, I don’t think that fallopian-tube-only surgery reduces a young woman’s risk of breast cancer because estrogen still is present in her body.
5. Everyone comes to the BRCA table with their own questions and baggage based on where they are in their lives and their own family history. In some families, ovarian cancer prevails…in other families it is breast cancer. In some families, it is both. It is a tough place to be and each person takes a different path to the decisions that are right for her. Some women have mastectomies prior to having children, deciding that it’s better to give up the ability to breastfeed knowing that they’ll be around to watch their children grow up. Others complete their families quickly so that they can move on to the prophylactic surgeries, while still others opt for surveillance for years and years, and don’t ever have surgery. Some remove their ovaries and not their breasts, others do just the opposite.
continuing the conversation
I commented:
It seems that with this procedure we are working at “breeding the gene out of existence”:
pre-implantation genetic diagnosis (PIGD) is now possible for couples where one of the partners has a BRCA mutation. I’m not a scientist, but basically embryos are created outside the mother’s body (using the mother’s eggs and the father’s sperm), they are tested for the presence of the known BRCA mutation, and only those that do not include the mutation are implanted. Children from such a procedure are spared the need to test and deal with the potential consequences of being BRCA positive.
to know or not to know
That is the question.
In either case: knowing, or not knowing affects our actions. As Jane wrote on her Reform Judaism post linked-to above:
…[there] will be community-wide, open-to-the-public BRCA awareness programs later this fall that will feature rabbis, oncologists, research scientists, genetic counselors, mutation carriers, support and advocacy groups, and others at synagogues in four U.S. cities:
- Monday, September 30 at Central Synagogue in New York, NY
- Sunday, October 6 at Congregation Rodeph Shalom in Philadelphia, PA
- Sunday, November 10 at Temple Israel in Minneapolis, MN
- Early spring 2014 at Wilshire Boulevard Temple in Los Angeles, CA
Presuming that I carry out my own Elul work well (and why wouldn’t I?!), synagogue staff in New York City shortly will be adding “Hang BRCA awareness posters” to their already-long list of essential tasks to be completed to prepare for the Days of Awe.
You too, can know.
now, i know.
| Date: | 2000s |
| Size: | 3.8 |
| Pin Form: | clasp |
| Print Method: | celluloid |
| Text | Protecting Future Generations Now, I know. www.JewishGeneticDiseases.org |
your lapel buttons
Many people have lapel buttons. They may be attached to a favorite hat or jacket you no longer wear, or poked into a cork-board on your wall. If you have any laying around that you do not feel emotionally attached to, please let me know. I preserve these for the Jewish people. At some point they will all go to an appropriate museum. You can see all the buttons shared to date.
