The Chaya Sisters

In March 2021 I contacted a genetic counselor to discuss getting tested.  What made me schedule that appointment?

The fact is, I should have done this a few years ago.  If I had been paying attention, I would have.  But I wasn’t. 

Missed Opportunity

In 2017, Dad took part in a genetic study through Columbia-Presbyterian.  He received a genetic profile for 175 different genetic conditions, including things like Canavan Disease, Familial Dysautonomia, and many more that I never heard of.  His results indicated that the risk of passing on all of the diseases tested was minimal.  All good, right?

However, about 9 months later he received a separate report that identified the BRCA1 mutation.  Because the report was for my father’s test results, the risk factors focused on cancers that could affect my father; they did not discuss ovarian and breast cancer risks.  The risk for male breast cancer was 1.2%.  Dad was 88 at the time.  We weren’t really worried.

However, the risk to the rest of the family was, in fact, spelled out on page 3 of the report:  Because a BRCA1 mutation has been identified in you, your relatives are also at risk to have the mutation…We recommend you share these results with your relatives, most importantly your parents, siblings and adult children, who each have a 50% chance to have the BRCA1 mutation.  Women with mutations in the BRCA1 gene have a 45-85% lifetime chance of breast cancer and 16-27% lifetime chance of ovarian cancer.  Having a BRCA1 mutation would change medical care and surveillance for your family members.  We recommend you share your results with your family members (parents, brothers, sisters, sons and daughters) using the letter enclosed.  They should speak with a genetic counselor or other healthcare provider about having genetic testing for the BRCA1 mutation.

It was there.  We just missed it.

The Chaya Sisters

My last blog post introduced my grandmother, Anna, and my great aunts, Elsie and Clara.  Clara’s Hebrew name was Chaya; I was named for her.  (Note for my non-Jewish readers:  Ashkenazi Jews traditionally name babies after a deceased relative.  In addition, Jews are given both an English name and a Hebrew name at birth.  The Hebrew name is used for religious ceremonies.)  I have 3 other cousins who are also named for Clara.  We have different English names, but all share the Hebrew name Chaya.  The other 3 Chayas are Clara’s granddaughters; I am of course Clara’s great niece.  But for years, I have always thought of us as the “Chaya Sisters.”

In spite of being “only” second cousins with the other three Chayas, I am quite close with two of them.  Our relationship has roots in the family Hanukah parties on Long Island; now that we are adults, we talk, text, get together for dinner, go to the beach—and now we are there for each other. 

We learned this year that we all share more than just a Hebrew name and a namesake.  We also share the BRCA1 mutation.  All three of us have it.

In January of this year, my cousin Cheryl called to let me know that she had tested positive for the BRCA1 mutation and suggested I get tested.  I vaguely recalled my father’s genetic results from a few years prior, but I didn’t give it that much thought. After all, Cheryl was a second cousin, and she did not have cancer.  I mentally filed the information away.

In March, my cousin Jenn, the youngest of the three of us, called.  She had breast cancer.  As part of her diagnosis, she was tested for a BRCA mutation.  She tested positive for BRCA1, and it was the same mutation as Cheryl.

I then pulled out my Dad’s genetic report from 2 years ago.  He had the same mutation as my Chaya sisters.  I called a genetic counselor.