Wading Through Widowhood: The power of life

Israel is home to some 70,000 carriers, 65,000 of whom have never heard of BRCA.

Breast cancer ribbon (photo credit: INGIMAGE)
Breast cancer ribbon
(photo credit: INGIMAGE)
Read this column carefully – it could save your life. First, some genetics: Let’s talk about the BRCA gene. Never heard of it? Neither had we, till Martin, alerted by family history, tested positive as a carrier. Then we did our research.
The gene, named (depending on whom you ask) either for UC Berkeley, California, where it was discovered in 1990 by Prof. Mary- Claire King, or for BReast CAncer, is a human caretaker gene (a.k.a. a tumor suppressor) that produces a protein which repairs DNA. In normal cells, BRCA1 and BRCA2 ensure the stability of genetic material (DNA), preventing uncontrolled cell growth. But a damaged gene can’t stop cancer from doing what cancer does best: rampaging through the body.
One in 400 of the general population has the mutation. But God’s chosen have a thing with genes; the figure jumps to one in 40 among Ashkenazi Jews. Israel is home to some 70,000 carriers, 65,000 of whom have never heard of BRCA. This is a whopping great disaster, as knowledge in this case means not only power, but the power to save your own life.
Here’s why: A BRCA gene mutation raises a woman’s lifetime chances of breast cancer to 87 percent, a five-times-greater-than-average risk. Men’s normal lifetime risk of breast cancer is 0.5%; BRCA2 mutations up this to 6%. Equally unsettling is that the disease often jumps 10 to 15 years each generation: If your mother had breast cancer at 50, you might develop the disease at 35. Should your child inherit the mutant gene, he’s at risk from 25.
There’s more: A woman with the mutant gene has a 50% lifetime risk of developing ovarian cancer (as opposed to 1.5% among the general population). The risk for pancreatic, gastric and biliary tract cancer rises from a normal 1% to 6% for carriers.
Here’s the good news: Carriers can lower the chance of developing breast and ovarian cancer by 90% – a prophylactic double mastectomy and removal of the ovaries obliterates the threat. Radical surgery is not fun, but it does beat dying young (just ask Angelina Jolie). Education plays a huge part in the decision: 80% of Swedish carriers opt for the knife. In Israel, the vast majority of people have never heard of the gene.
But that is now changing, thanks to three wonderful women. They are all blonde, and all beautiful, and they are all saving lives every day.
Lisa Cohen, founder and director of BRACHA – an organization for women living with the mutant gene – is emphatic about genetic testing and proactive measures to protect one’s health. She reels off irrefutable reasons: Cohen, who hails from Cardiff, Wales, lost first her mother and then her young sister to breast cancer before discovering a lump herself. Her tumor, thankfully, was benign, but Cohen, a mother of three, who found out about the gene by chance in Britain, elected to do a double mastectomy and whip out her ovaries. Then she collapsed.
“I went through so much,” she explains in her empathetic manner, “and I couldn’t find anyone to help. The doctors didn’t take me seriously, hardly anyone had heard of the mutation, and there was no support system.”
So in 2009, she decided to form one.
BRACHA, Hebrew for “blessing,” is a nonprofit educational organization for healthy women “who are blessed to have found out about the BRCA gene before it can harm them,” says Cohen. “A carrier can choose surveillance or surgery, and live with the difficult consequences... but at least she is living!” An obvious consequence of no ovaries is no more babies. Prof. Eitan Friedman, onco-geneticist at Sheba Medical Center in Tel Hashomer and chairman of BRACHA, agrees with the standard of care recommendation to do an oophorectomy at age 40.
Embryos can be frozen for future use before the ovaries are removed.
Rosa Dembitzer’s initial integration into Israel could be a poster-story for successful aliya. Born in Costa Rica, she relocated to the States as a young adult, found a great job, married a handsome, successful Zionist and, after considering and rejecting aliya for years, finally made the move some five years ago. The family settled fast: work, school, the army – all went according to plan. And then, disaster. A routine mammogram revealed a lump, a needle biopsy confirmed cancer, a lumpectomy was followed by a course of treatment. The chance remark of a friend abroad – “Did you get that Jew-gene test?” – led to a screening for the BRCA mutation; Dembitzer tested positive.
“I knew nothing about this gene,” she explains, “but I soon found out.”
Her research convinced her to remove her ovaries and fallopian tubes, and it was lucky that she did: A biopsy revealed more cancer, leading to yet more surgery and chemo. Then she elected to do a double mastectomy. Hit with two bouts of cancer in less than three years, many women might understandably pamper themselves, keeping as far away as possible from any mention of illness. Not Dembitzer.
“Just a blood test can tell if one is a carrier,” she says, “and then it’s simple to monitor one’s health. Prevention or early detection makes treatment so much easier, alleviating most of the pain and suffering that I experienced.”
Young women who are still having and feeding babies, and women who opt not to do surgery for any other reason can choose the surveillance track, which includes regular MRIs, ultrasounds and blood tests.
Careful monitoring is also extremely effective, as finding the disease early makes it much easier to treat. Genetic testing is available through the health funds, and carriers are eligible for annual checkups.
Women who find the thought of surgery or early menopause too difficult can monitor themselves vigilantly, for free.
To raise awareness and promote education, Dembitzer, together with geneticist Dr. Efrat Levi-Lahat and Israel Cancer Association director Miri Ziv, initiated the Prevention GENEration program. Ten hospitals throughout the country now distribute information and facilitate testing and counseling. An online questionnaire directs people toward genetic testing when family medical history supports this; the next step is to routinely test all Israeli women.
“It’s crucial to understand the implications of being tested,” Dembitzer emphasizes.
“Being a carrier is not a death sentence. Discovering the gene in time can save your life.”
I could easily fill up six columns in praise of Dr. Talia Golan, Martin’s superb oncologist. Even adjectives starting with “s” would suffice for paragraphs: She is supernice, sympathetic, and a stunning doctor and human being. Born in South Africa and raised from her young teens in Ra’anana, Golan, a senior oncologist at Sheba Medical Center, is a shining anchor for her patients. Martin adored her, I adore her still. She recently started a registry (in conjunction with Memorial Sloane Kettering Hospital in the US and Shaare Zedek Medical Center in Jerusalem) for BRCA carriers with pancreatic cancer, to investigate why certain families have a predisposition toward this disease.
In addition, together with scientist Hadassa Degani of the Weizmann Institute of Science, Sheba is working on a methodology for early detection of pancreatic cancer based on blood work and imaging.
“My vision includes early detection and a fast-track treatment,” explains Golan, “and we are focusing on patients with the BRCA gene mutation.”
Convinced? Ring up your doctor today, and get yourself tested. Here’s to only health ahead for all – health and peace and fun. And did I mention health?
Shabbat shalom.
Prevention GENEration: www.cancer.org.il/prev-gene or prev-gene@szmc.org.il
BRACHA: www.bracha.org.il or Info@bracha.org.il
The writer lectures at the IDC Herzliya and Beit Berl.