Dr Judith Guedalia

May The Gates Of Heaven Connect To Our Bridges Of Beseechings
Coming into Jerusalem is always a thrilling experience, even for 'veteran' Jerusalemites, but since the new opening of Spanish architect, Santiago-Calatrava's Jerusalem Chords Bridge, Jerusalem has a "new" way of communicating with its inhabitants and visitors.
At the beginning of October the bridge's evening lights were turned on and they were PINK!  This was in unison with many other inanimate objects throughout the world's capitals, signifying a global "kick-start" of October 2008 being designated Breast Cancer Awareness Month.
I have met many people who, in their daily lives, demonstrate chesed.  One in particular is Gail G. * (she has permitted use of her full name, but I have decided to just use her first name and initial in this article).  Gail G. was honored at the annual Shaare Zedek Women's Organization Luncheon in the United States. She didn't want to accept the honor, but was told that the only way she could disseminate her story was for her to speak herself, and the only way to do that was to accept the duly deserved honor.
Keeping life-saving information for herself alone is not Gail G.'s way.  She is a consummate "researcher" of "getting-to-the-bottom" of information and then uses it to "get-to-the-top."  Here is her story − in her words:
"Before I tell you my story, I would like to mention some of the cutting-edge research and actual clinical work that is being done under the leadership of Professor Ephrat Levy-Lahad, M.D. of the Medical Genetics Institute, which she helped found, and is committed to all aspects of clinical care in genetics, as well as performing groundbreaking research. 

"I will briefly discuss some work in three areas which I believe you will find of particular interest: prenatal, stem cell, and breast cancer.

"Firstly, the Medical Genetics Institute has Israel's largest lab for pre-gestational diagnosis (PGD).  In this lab, embryos obtained by Invitro-Fertization, or IVF, in couples at risk for genetic diseases, are tested, and only healthy embryos are returned to the womb.  Additionally, it is literally only one of a handful of labs in the world that can perform PGD on the egg rather than on the embryo, and this minimal manipulation results in higher pregnancy rates. 
"Thanks to the generosity of Rabbi David and Mrs. Anita Fuld, even a woman who has no insurance can have PGD.  There are never any out-of-pocket costs to either patient or hospital.  Since its inception in 2004, over 53 healthy babies have been born to couples at risk for devastating genetic illnesses, with another 11 on the way. 

"Secondly, again under Dr. Levy-Lahad's guidance, Shaare Zedek has recently opened a Stem Cell Research lab. What I particularly find exciting is that stem cell lines will be created from the diseased embryos obtained by PGD.  Shaare Zedek's Stem Cell Research Lab intends to provide a unique global resource for studying human disease in human cells − as these lines will be made available to researchers outside of Shaare Zedek.  This means that researchers − anywhere in the world − will have access to these stem cell lines.

"Now, I will tell you about some of Shaare Zedek's work in breast cancer research. Within the Medical Genetics Institute, Dr. Levy-Lahad has pioneered Israel's first specialized Cancer Genetics Clinic, which enables genetic analysis of families with multiple cases of cancer. An outgrowth of these studies was the realization of the cancer risks in Ashkenazi BRCA1 and BRCA2 carriers.

"In addition, in 2000, Shaare Zedek's Medical Genetic Institute became the first foreign institution to be chosen for support of breast cancer research by the prestigious Breast Cancer Research Foundation − and they are currently funding a study which includes over 8,000 participants to determine if it would be justified to offer BRCA1 and BRCA2 testing to all women. 

"Dr. Levy-Lahad also collaborates with the scientist, known as the 'mother' of breast cancer genetics and a member of our board, Dr. Mary Claire King who is based at the University of Washington. It was Dr. King who discovered and named the BRCA1 gene.  I asked Ephrat if she was involved in this.  Her response was, 'No.  I was busy discovering a gene for Alzheimer's at the time.' However, it was their collaboration that established the importance of another Jewish mutation; this one, in the 'Chek2' gene and this is where my story begins.

"In 1979, my beloved sister, Marsha Dane Stern, of blessed memory, lost a five-year battle with breast cancer. She was only 36.  Then, in 1980, my mother, of blessed memory, found a lump.  Thank G-d she survived cancer-free and only passed away last year.

"All was quiet within our family until 1992, when I, too, was diagnosed with breast cancer − bilateral − both breasts with three primary sites and, as with many other pre-menopausal women − nothing showing on a mammogram.  By the way, in my family, pre-menopausal women have sonograms or more recently, some are having MRIs, in addition to mammograms.  

"My case was a little unusual.  It was the topic of Grand Rounds at Mt. Sinai Medical Center in New York.  I spoke with Drs. Larry Norton and Susan Love, names that many of you know.  My records were reviewed at Harvard, NIH, and the Milan Institute and a course of treatment was decided. 

"Subsequently, one of my doctors presented my history to a Congressional Committee in an effort to get increased Congressional breast cancer research funding. Remember, it was around the time of my sister Marsha's cancer discovery that first lady Betty Ford had her very public battle with breast cancer. Up until then, many women still considered breast cancer a taboo subject, too fearful or even shameful to be discussed openly. 

"Unfortunately, my family learned the hard way how truly important it is to know one's family's medical history.  My sister's lump was not taken seriously because of her young age and it wasn't until my own cancer that I was shocked to learn that I was one of eight acknowledged breast cancer cases in my family, dating back through my paternal grandfather to my great-grandmother. 

"I had easily accepted that I had cancer - with the breast cancer probability in the female population being what it was.  I had thought, 'why not me?'  However, after I learned about my family statistic, I asked, 'Why my family?'   As those who know me well know, I am a doer, so I started searching for an explanation. 

"I called the big guy himself, Dr. Frances S. Collins, who had not, as yet, announced that he was leaving the University of Michigan to succeed James Watson and become director of the National Human Genome Research Institute and overseer of the International Human Genome Sequencing Consortium − that group that has been responsible for mapping and sequencing all of the human DNA.

"Yes, I started big time.  My family was accepted in Dr. Collins' study, which was later taken over by Dr. Barbara Weber and moved to the University of Pennsylvania.  In addition, we were accepted in studies at Mt. Sinai Hospital and Memorial Sloan Kettering. 

"Finally, in 2002, Dr. Weber told me I had a CHEK2 mutation which no other family members tested had, and a finding other institutions could not replicate. 

"In 2004, I again had breast cancer − in a muscle in the chest − an impossibility one would have thought, after bilateral mastectomies.  By the way, not surprisingly, the number of known family members, with at least one instance of breast cancer, had risen to 12. 

It was at last year's Shaare Zedek luncheon that I first heard of the work being done by Dr. Ephrat Levy-Lahad in collaboration with Dr. Mary Claire King.  My family became part of their study.  This past October, I learned that Dr. Barbara Weber had been right − I have a CHEK2 mutation.  However, I have another CHEK2 mutation which was recently discovered in the King lab by a post-doc originally from Shaare Zedek, Dr. Avram Shaag. Until my case, these two CHEK2 mutations had never been seen in the same individual.  It has been ascertained that my sister Marsha shared this dubious honor.

"The first CHEK2 mutation is found in populations of northern European ancestry, including Ashkenazi Jews.  The second mutation is specific to Ashkenazi Jews. These mutations increase breast cancer risk by a factor of two to three and Dr. Levy-Lahad says additional gene mutations will be forthcoming. As a result of these findings, one of my relatives who has a CHEK2 mutation, as well as BRCA2, and has had breast cancer twice, recently had a prophylactic hysterectomy.  Another relative, because she has the newly discovered mutation, is planning on having prophylactic mastectomies.

"Dr. Larry Norton once told me that my family might be the 'Rosetta Stone' for breast cancer.  I don't know if we are, but, I do know, that the work of Shaare Zedek's Prof. Ephrat Levy-Lahad, M.D. will save many women from this dreaded disease and has had a major impact on my own family − for which I will be eternally grateful.

"So, thank you, Shaare Zedek for this honor and for allowing me to speak."

And, thank YOU Gail G. for sharing your story, and to you, the over 200,000 people who read The Jewish Press, please share this story too!

May Hashem grant us all a healthy, happy, and peaceful New Year,

*Gail G. has given me permission to forward her email to those who request it directly from me: This e-mail address is being protected from spambots. You need JavaScript enabled to view it .
Originally published in the Jewish Press on October 29, 2008.

Tags: BRCA1 | BRCA2 | Breast Cancer | CHEK2 | Invitro-Fertization | IVF | Jewish Press | PGD | Pre-gestational diagnosis | Prenatal | Prophylactic Hysterectomy | Prophylactic Mastectomies | Stem Cell