The Wild Girls of Genetic Counseling

Today I went to the Cancer Genetics Program at Fancy Hospital to start finding out if I have either of the BRCA gene mutations, more common among us Ashkenazim than the general population. The mutations increase a person's risk for both breast and ovarian cancer. If I have the mutation, I'll send my right ovary into storage. (The left has already gone to its final reward.) I was the only patient in the office, which just had three chairs in the waiting room. It was so odd and quiet compared to the vast waiting area of Chemolandia. A chirpy intern had interviewed me on the phone already to gather all the information about cancer in the family. (Yes, we have cancer, we have many kinds of cancer: colon, endometrial, breast, stomach, lung, skin, parotid gland. Not to mention leukemia and Waldenström’s macroglobulinemia.) The intern came out to get me and I joined her and the genetic counselor, who was tall and blond and said, Someone's been writing on your head. The intern explained everything to me via diagrams in a book. She did a good job. Based on my family history, I have an 18 percent chance of having a BRCA mutation. I decided I wanted the blood test for it, and I also agreed to participate in some research, so four tubes of my blood were collected.

The blonde measured my head to see if it was big. It's not. It's normal. I always thought it was big, but that's because of the bulkiness of my former hair. There's a rare syndrome, Cowden, which is caused by a genetic mutation and makes you more likely to develop breast, thyroid, uterine and maybe colon cancer. I may be tested for that mutation, too. Besides a big head, other symptoms of Cowden syndrome are awkward gait, skin tags and bumps, what sounded like "hammertoes" in your colon, and lipomas. I've had a couple of random bumps removed and also a lipoma (which grew back). A lipoma is a fatty (lipos=Greek for fat; think liposuction...and My Big Fat Greek Wedding) tumor under your skin. I have one on my upper arm that grew to replace the one that was cut out. At the time of the surgery, I asked the surgeon to show it to me, and he did. It was yellow like chicken fat. So now my homework is to get the pathology reports from the bump- and lipoma-ectomies and my colonoscopy. The Counseling gal said tongue and mouth bumps can be part of the syndrome, and she checked out a tongue bump I've had for about 15-20 years. She looked around my mouth and gums. I felt like we were checking for ticks. (My friend D asks: What's considered foreplay in the Ozarks? Checking for deer ticks.)

I have to fill out a form to help researchers looking at another mutation. The counselor said there is follow-up for that study every two years. So people will call you up and ask, Do you have breast cancer? I asked, picking up an invisible phone. I picked it up again, Do you have cancer? Do you have cancer? Are you dead?

It was that kind of atmosphere, where I felt I could do that. If those two are any indication, genetic counselors are a load of fun.

Today was the first time in five days that I was happy. I didn't feel like crying. I could laugh. It made me realize how miserable I'd been feeling.

I'll get the results in about four to five weeks. If I have BRCA1 or 2, then I'll have to think about getting my right breast removed, too. L and I have been saying that the mastectomy was nothing compared to the chemo, but still the mastectomy was something. And those fucking drains stuck inside my body! At least if I do have to get the second breast removed, I'll be grateful that I haven't had reconstruction yet. I could get both breasts filled up at the same time.

Years ago I was friends with a genetic counselor. We met when we were docents for the Chicago Architecture Foundation. When she gave tours of Glessner House, she'd say: See that cabinet over there? It's 100 years old...and it's never been opened. Her father gave Jewish tours in New York, and gave us a private one once of the Lower East Side. Our friend had breast cancer. And then she died.

12 comments:

barbara said...

happy is better than miserable, but you certainly described miserable beautifully!

gail said...

I've been following your blog regularly. Riveting... hope your pain has subsided. gail konop baker

Writer said...

About our friend the genetic counselor who died of cancer: Journal of Genetic Counseling, Vol. 7, No. 5, 1998
Beth Fine Kaplan—Colleague and Friend
Karen Greendale1,2
Beth Fine Kaplan, MS, CGC, consummate genetic counselor, died of
breast cancer at age 41 on May 12, 1998 in Chicago, Illinois.
Beth was an Assistant Professor of Obstetrics and Gynecology and Coordinator
of the Graduate Program in Genetic Counseling at Northwestern
University. She was instrumental in developing the program, which ac-
1Wadsworth Center, New York State Department of Health, Albany, New York.
2Correspondence should be directed to Karen Greendale, Wadsworth Center, Room E-299A,
Empire State Plaza, P.O. Box 509, Albany, New York 12201-0509.
381
1059-7700/98/1000.0381$15.00/1 C 1998 National Society of Genetic Counselors, Inc.
Beth Fine—Genetic Counselor, Colleague, Friend
cepted its first class in 1991; the program has since graduated more than
30 students.
Before changing her focus to teaching, Beth had worked as a genetic
counselor at Boys Town Institute and Children's Memorial Hospital in
Omaha and at Michael Reese Hospital and Medical Center and Illinois
Masonic Medical Center in Chicago. She was lucky to work with two clinical
geneticists—Mark Lubinsky and Gene Pergament—who encouraged her
development and enjoyed her successes. Highlights of her career included
serving as Coordinator of the NIH CVS & Amniocentesis Study and as
Principal Investigator on "Genetic Counselors as Educators on Human
Genome Issues"—a large grant from the National Center for Human
Genome Research.
Beth was involved on numerous levels in the National Society of Genetic
Counselors, serving on the editorial boards of the newsletter and the
journal, chairing educational conferences and the Human Genome Project
Subcommittee. She served as President of the NSGC in 1986-7, at a point
when the Society had just exceeded 600 members. Beth ushered in a new
era with the establishment and hiring of the NSGC's first Executive Director,
centralizing all NSGC operations in one office and allowing the profession
to expand in scope. In 1994, she was the first recipient of the
Society's highest honor: the Natalie Weissberger Paul National Achievement
Award.
Beth completed her 5-year term on the Board of Directors of the
American Board of Genetic Counseling in December 1997. She was a member
of the Accreditation Committee and served as vice president for two
years. In addition to her responsibilities in program review and item-writing
for the certification examination, Beth was instrumental in the development
of practice-based competencies for genetic counseling students. These competencies
have been incorporated into the curricula of graduate programs
and are a focus of ABGC's accreditation reviews. In May 1997, Beth presented
an overview of the ABGC at a satellite meeting held in conjunction
with the European Society of Human Genetics Conference in Italy.
As a member of the American College of Medical Genetics' Joint
Committee on Professional Practice and Guidelines, she helped to write
and then to implement a New York State Department of Health grant to
develop, disseminate, and evaluate two clinical guidelines in medical genetics.
In addition, Beth served on the Information and Education Committee
of the American Society of Human Genetics and was a member of
the NIH-DOE Working Group on Ethical, Legal and Social Implications
of the Human Genome Project.
Beth was a dynamic speaker on a broad range of topics for professionals
and the public. She liked to present to groups unfamiliar with the
382 Greendale
genetic counseling process or profession. Recent highlights were presentations
to the Society for Health and Human Values, the Association of
Women's Health, Obstetric and Neonatal Nurses, the Institute for Jewish
Medical Ethics, and the National Association of Women's Health Professionals.
It is deserving of special mention that Beth bravely became involved
in cancer genetics counseling, program development, and policy making at
a point when it had become clear that she was dying of the disease herself.
She worked to develop the cancer genetics program at the Robert H. Lurie
Cancer Center at Northwestern and was a member of the Hereditary Susceptibility
Working Group of the National Action Plan on Breast Cancer.
Besides her talents in genetic counseling, research, teaching, and
speaking, it is impossible to talk about Beth without trying to capture her
incredible gift for friendship. She could make instant connections with even
casual acquaintances and always kept track of the trials and tribulations of
those she felt most passionate about. She could remember a family story
(about your family) that you had told her years before! The same combination
of intelligence and heart that made her an excellent genetic counselor
made her a wonderful friend.
Beth's energy and spirit allowed her to pack what seems in retrospect
like a full allotment of life into a few short decades. She will be terribly
missed by her friends and colleagues in the genetics community. She is
survived by her husband, Dan, and her boys, 11-year-old Joshua and 8-year
old Aaron.
ACKNOWLEDGMENTS
Thanks are due to Diane Baker, Bea Leopold, Ginny Corson, and Judy
Schiffman.
--
Cancer Bitch

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