CJG Blog

Center for Jewish Genetics blog

The Stories That Bind Us: What Are The Twenty Questions?

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By: Elayne Goldman

Do you know detailed information about your family history? In “The Stories that Bind Us: What Are the Twenty Questions?” the need for details in family history is explored to uncover the stories that need to be told in every family. This exploratory article determines twenty of the most important questions each family member should know about their parents and grandparents, and urges each reader to take the time to answer each of the questions. Don’t know the answer to one or more of the questions? Reach out to your family members and get the conversation started! The Norton & Elaine Sarnoff Center for Jewish Genetics has online resources for anyone who wishes to know more about their family history available at:  https://www.jewishgenetics.org/

Read the full article from the Huffington Post here

Rare Disease Day is February 28th!

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Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem. According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment, and approximately 50% of rare diseases have no specific foundational support or research to combat that disease. Currently, there are 7,000 different types of rare diseases and disorders, with more being discovered every day.

Need more information? 

  • There are an estimated 30 Million people living in both the United States and Europe each with rare diseases, or approximately 1 in 10 Americans, and 1 in 25 Europeans. If all of the people with rare diseases lived in one country, it would be the world's 3rd most populous country, with an estimated 350 million people. 
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person's life, even if symptoms do not immediately appear.
  • Approximately 50% of those affected by rare diseases are children.
  • 30% of children born with a rare disease will not live to see their 5th birthday.
  • Rare diseases are responsible for 35% of deaths in the first year of life.

What can you do to help? Start by taking part in Rare Disease Day and make the voices of those living with rare diseases heard. Rare Disease Day is February 28th, and there is so much that every person can do, but raising awareness is key. Visit http://www.rarediseaseday.org/ to learn about the different events and activities that you can take part in as an individual, a family, or a community, and help those who have suffered for far too long on their own. 

Gastrointestinal Cancer Genetics: What Practitioners Need to Know

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By: Karen Litwack 

It may surprise you to learn that according to statistics from the American Cancer Society (2014), 136, 830 new cases of colorectal cancer (CRC) were diagnosed and 50,310 deaths were reported.  CRC is the second leading cause of cancer death in men and women in the U.S.  The lifetime risk is about 1 – 17 with the average age of diagnosis at 67 years.

This is in stark contrast to hereditary cancers syndromes such as Lynch syndrome (hereditary non-polyposis colorectal cancer/HNPCC) and familial adenomatous polyposis (FAP) where age of onset can be much lower and specific gene mutations have been found to contribute to these complex cancer syndromes. 

 About 10 – 30% of CRC are considered familial with only about 2 – 5% affected by Lynch syndrome.  The gene mutations involved in Lynch syndrome are autosomal dominant and cause a loss of normal DNA repair which leads to genomic instability.  The cancer spectrum for Lynch syndrome includes CRC, endometrial, ovarian, stomach, urinary tract, small bowel, biliary tract, pancreatic and brain.  Using universal testing, there are about 16,000 new Lynch syndrome patients each year that would benefit from screening and surveillance.

FAP is another autosomal dominant hereditary cancer syndrome.  FAP can affect individuals at a very young age and management with colonoscopies can begin as young as 10 – 12 years of age.  There is no recommended age for surgical intervention.  Children and adolescents usually delay with surveillance until old enough for this procedure.

Given the serious nature of hereditary CRC, when should healthcare providers consider a referral for a cancer risk assessment?   

According to Jessica Stoll, genetic counselor at the University of Chicago Comprehensive Cancer Risk and Prevention Clinic, the following are indications for referral; personal history of an early onset cancer diagnosis, personal history of bilateral or multiple cancers, family history of cancer and for genetic testing for clinical trials. 

How would a patient benefit from a cancer risk assessment?

The patient would receive a comprehensive risk assessment which includes; evaluation of family history and personal risk factors, determination of appropriate genetic testing and management and detailed counseling around genetics, cancer genetics, pre and post test results and psychological issues which may arise with the patient or family members.

What are the benefits of genetic testing for patients?

Genetic testing may provide a patient with a more specific cancer risk; an opportunity for personalized cancer screening and risk reduction options; an answer to patients and families that have experienced multi-generational illness (from cancer) or demise; may decrease cancer anxiety in some patients and/or families; and may provide family members with more information about their own cancer risk.

The Norton & Elaine Sarnoff Center for Jewish Genetics would like to thank Dr. Sonia Kupfer  and  Jessica Stoll, MS, CGC who oversee the Gastrointestinal Cancer Risk and Prevention at the University of Chicago for their excellent presentation on Gastrointestinal Cancer Risk.

Mommy, Where Are Your Nipples?

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“MOMMY, WHERE ARE YOUR NIPPLES?” – January 18, 2016

Karen Lazarovitz 

As published in Connect4Cancer in February 2015

“Mommy, where are your nipples?”

This is something I never thought I would hear coming out of my children’s mouths. This is my reality; and I promised myself when my journey began over six years ago, that I would always be honest with them. I respond with, “The doctors removed them along with my boobies and fixed them so that I would never get sick with breast cancer.” That answer satisfies them, for now at least.

                                               Jonah 4, Paige 2
At the time of surgery, Jonah 4, Paige 2                                                       

To those who don’t know about hereditary breast and/or ovarian cancer it makes no sense.  People aren’t able to understand that by removing healthy breasts and ovaries, I have reduced my chances of developing cancer to less than 2-5%.   If I had a dollar for every person that told me that I could eat right or exercise to avoid my risk of cancer, well, I would have a lot of money!  As a BRCA2 mutation carrier, I was given up to an 87% risk of breast cancer and up to 40% risk of ovarian cancer. That knowledge alone was enough for me to take drastic actions. Cancer was NOT going to get me.

A mutated BRCA gene cannot be repaired.  It cannot be fixed by eating right, exercising, or with natural remedies.  If you have a mutated BRCA gene it’s because you were born with it.  It has been ingrained in your DNA from the time of conception.  If either of your parents has the BRCA mutation then there is a 50% chance of passing it onto their children. And yes, males can be carriers as well.

September 2008, when my dad called to tell me that he was waiting for his results from a genetic test, I had no idea what he was talking about. He explained that it was a blood test to see if he carries a mutated BRCA gene which could be passed down to me and put me at an extremely high risk for certain cancers. We didn’t have any breast cancer in our family that I was aware of, and, although sadly, one of my cousins was fighting ovarian cancer, I didn’t see how it was connected. While I knew he lost his mother to cancer while he was in his teens, I never knew the details.

On December 27th 2008, at my own genetic testing appointment I received my positive BRCA mutation results.  Soon after my genetic counselling appointment, I learned from my father that he was able trace our family tree as well as health records from my cousin (who was fighting ovarian cancer at the time). I discovered that there was not only ovarian cancer in my paternal family tree, but breast cancer and skin cancer too (which we BRCA2 mutants have a slightly higher risk for). 

                                                Husband and best friend Joel
My amazing husband and best friend Joel 

Walking out of my genetic counselling appointment, hand in hand with my amazingly supportive husband, my decision was made. I was going to have a risk-reducing double mastectomy and hysterectomy with oophorectomy (removal of the ovaries), ASAP! 

Armed with my results, I got online to search for others who were in a similar situation. I was shocked to find almost no information or support about BRCA mutations.  I needed to talk to others who knew what I was going through. I needed to connect with others who were living with a BRCA mutation. I needed to bond with others who understood how I was feeling.

Panic set in and breast and ovarian cancer took over every waking thought.  Every ache and pain I felt I thought was cancer.  My breasts and ovaries felt like ticking time bombs, like they were plotting against me. I had to get rid of them. Right away! I felt that it was not a matter of if I was going to get cancer butwhen.  All I could think was, I`m going to get cancer and die young. I`d leave my husband a widower and my children without a mother. I was NOT going to let that happen!

On February 10th 2009, I had a full risk-reducing hysterectomy with oophorectomy. Once I recovered, I went back into the hospital on April 30th, 2009 to undergo a risk-reducing double mastectomy with the beginning of reconstruction (or, PBM; Prophylactic Bilateral Mastectomy as those of us in the BRCA community refer to it).  From the moment I woke up from both surgeries, my fear was gone. I never once questioned my decisions. I was so proud of myself! I was elated! I had taken control of my life and dealt cancer a pre-emptive strike! 

Going through with my surgeries and reconstruction was not easy and I was still looking for support which I wasn`t finding. Thankfully I found one girl who I connected with online, Teri Smieja, who also had a BRCA mutation and was going through the same preventative surgeries as me. It was such a relief to talk with someone who just got it. I felt like I wasn’t alone. It made all the difference during my journey and we have since become amazing friends.


                                                Teri Smieja
Teri Smieja and I - Founders of BRCA Sisterhood

We decided that we would start a private Facebook group for women like us who needed support. In December 2009 we started the BRCA Sisterhood. It started with eleven women and has since grown into the largest, most active Facebook group of its kind with over 4300 women worldwide and growing daily. It is a group that is filled with support and understanding. There is no judgment only love.  Whether someone is choosing surveillance, chemo-prevention or risk-reducing surgeries, there is someone in the group going through the same thing.

Through the love, support and appreciation of all the women I have met, grew a passion for advocacy. I realized that I could make a difference.  I felt something deep inside of me take over. The BRCA Sisterhood wasn`t enough, I needed to do more.

Six months ago I started a Montreal BRCA support group with a genetic counselling student who is studying cancer genetics.  The group meets once a month and allows everyone to have a face to face connection. It has been quite successful and I have received great feedback from the women who have attended.

I still feel that I still have so much to offer and share, which brings me to this, my next project, my blog.  When Connect4Cancer approached me about writing a blog for them I was touched and humbled and happily agreed! Being able to affiliate myself with such a fabulous organization will be a tremendous help in reaching a wider audience.

Whether you are dealing with hereditary breast and/or ovarian cancer or know someone who is I encourage you to make sure that they ask questions, educate themselves and reach out and ask for help. No one dealing with something as serious as Cancer should ever feel alone. I have and will always be an open book about my risk reducing surgeries so if you have any questions at all please don`t hesitate to ask.

Until next month!

Much love and health,

Karen

Xox

"We make a living by what we get, but we make a life by what we give." ~ Winston Churchill.

                                            Jonah 10, Paige 8
Jonah, 10 years & Paige, 8 years

Karen Lazarovitz, a BRCA carrier is an advocate for hereditary breast and ovarian cancer. Karen is the founder and Creator of the BRCA sisterhood on Facebook with over 4500 members worldwide and growing daily. She also started the first BRCA support group in Montréal. Karen shares her thoughts every month on Connect4Cancer and has been kind enough to share her posts with the Center for Jewish Genetics. Interested in learning more about Karen? Check out Facebook, Twitter, or Instagram!   

Facebook:   BRCASisterhood                
Twitter:   @KarenBRCAMTL
Instagram:   KarenLazarovitz_BRCA

There are many genes and mutations that lead to an increased risk for hereditary cancers, and the Center is here as a resource for all of these conditions, especially those that are more common in the Jewish community.

There has been so much information in the media recently surrounding BRCA1 and BRCA2 and how mutations on these genes can lead to an increased risk for certain cancers; there has also been a lot of information in the media about how mutations in these genes are more common in the Ashkenazi Jewish population, and what our community should do regarding that increased risk. If you are interested in learning more about the Center’s position on that topic, please refer to our statement  here.

If you would like more information on hereditary cancers or have questions regarding genetic testing, please feel free to contact the Center’s genetic counselor, Aishwarya Arjunan, at 312-357-4658 or by email at  AishwaryaArjunan@juf.org. You should also feel free to check out our  partners’ page, which includes information on organizations that specialize in support for these hereditary cancers and the risk for these hereditary cancers.

#menhavebreaststoo

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#MENHAVEBREASTSTOO – February 1, 2017

Leah Steinberg 

If we were to tell you that this year, “about 2,350 new cases of an invasive male cancer” were going to be diagnosed, which cancer would you guess that was? I bet your first guess wasn’t breast cancer, but that is actually the frightening statistic pertaining to this disease. And what’s even more frightening about this fact? “About 440 of those men diagnosed will die from their breast cancer.”

Can you believe that? Men are “dying by the hundreds” and there is so little information out there about what is going on. Why is that? And what can we do to raise awareness and educate the men in our communities and in our families about their risk?

Men Have Breasts Too is a documentary currently in production that is trying to do just this: raise awareness and create a community of men who are affected by male breast cancer. As one male breast cancer survivor says, “It was emasculating when I got diagnosed, and I think that is why I didn’t tell any of my friends.” In the video series produced in association with this upcoming film, “the faces of male breast cancer,” men speak out to empower one another and try to erase the stigma associated with being a man in what is usually a “women’s only club.”

One of the physicians interviewed in the film reasserts this mission by stating, “The numbers make you think about women, rather than men.” Another survivor says in the film, “[when the doctor told me my diagnosis,] I said, ‘you must have the wrong chart, I don’t have breasts.’” As we look at all of the awareness raising campaigns that are targeted only to women, it is not surprising that most men do not know they can get breast cancer. But what are the implications of this lack of knowledge for the men who are affected with this terrible cancer?

One man says in the documentary, “walking into the women’s center was a little intimidating...” And another survivor echoes his feelings by saying, “[the form asked] are you pregnant, when was your last cycle, etc. I filled out my name and address and the rest didn’t really apply to me.” Another male survivor says of his diagnosis, “I felt like a leper, my friends had never even heard of male breast cancer and it freaked them out.”

This documentary is produced in association with the Male Breast Cancer Coalition, which states on itswebsite, “Our goal is to have a world free of breast cancer.  Until we educate everyone, including the medical community concerning the need for more testing and clinical trials available to men, our mission continues to be an uphill battle. Knowledge is power and we want people to be informed.”

The Center agrees that knowledge is power. Please share these facts with the men (and women) in your life so that we can create a healthier and more informed community. Keep these statistics in mind when you look at your family tree and talk to your doctor about your family health history. Remember, BRCA mutations can be passed down through an individual’s mother or father, and these mutations can affect an individual’s sons or daughters. And check out the personal story of Lori Berlin, one of the producers of the film, to learn more about her family’s history with male breast cancer and hereditary cancer

Remember too that BRCA mutations can lead to an increased risk for more than just breast cancer. Check out the Center’s website for more information on hereditary cancer and what diseases you should keep an eye out for in your family tree.

Questions about hereditary cancer? Contact the Center for more information and we can help you find a genetic counselor that is right for you! Also check out the teaser for Men Have Breasts Too, and stay tuned for a film screening coming to a city near you!

Losing Both Your Parents to Pancreatic Cancer: The Silent Killer

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LOSING BOTH OF YOUR PARENTS TO PANCREATIC CANCER, THE SILENT KILLER

Roslyn Turner, Vice President, Rolfe Pancreatic Cancer Foundation, Young Professionals Board 

As part of pancreatic cancer awareness in November, I would like to share my personal story on how this insidious illness impacted my family. In 2001 I was like any other 16 year old – just got my license, my family celebrated my sister’s Bat Mitzvah, I was off to overnight camp for the first time… life was great!  After about a week away, I got a phone call that I had to come home right away- but no one would tell me why.  I walked into my house and knew something was wrong and moments later I was told my dad had cancer – he had Pancreatic Cancer.  I didn’t know anyone personally who had cancer. (I didn’t really know where the Pancreas was or what it did!)   I knew that people would get cancer and it was bad but a lot of people lived with it, from it.  They did treatments – it could be ok.  It was mid-summer, and in that moment I was thinking when does he start treatment?  Should we take a family vacation before he does?  But those thoughts ended quickly when I was informed that they found his cancer because he woke up one morning, eyes and skin jaundice because his body was shutting down.  There was no stage, there was no early detection of this – my dad was actively dying and only 3 short weeks after diagnosis, my dad lost his battle with Pancreatic Cancer.

Time passed, it got a little easier every day.  I graduated high school and was off to college.  In 2004, winter break of my sophomore year, my mom, sister and I took a family vacation. For two weeks my mom had what we thought was the stomach flu – she couldn’t keep anything down, not even water.  On New Year’s Eve we finally convinced her to go to the hospital and just days into the New Year, after many tests and a surgery, the doctor sat us down and said “You’re mom has Pancreatic Cancer and it has already metastasized to the liver.”  I think I laughed.  Sorry, wrong parent.  But I realized it wasn’t a dream. They always say you learn from experience and in my experience I thought we had days, maybe weeks – what do we do?  How do I do this again?  We prepared for the worst because with Pancreatic Cancer you usually do not detect it until it’s too late.  In November of 2005, just 10 months after her diagnosis, my mother also lost her battle with Pancreatic Cancer.

There I was, 20 years old with a younger sister and Pancreatic Cancer had taken the lives of both my mom and dad.  It was terrible, and devastating, but taught me that this disease is severely unknown, under researched and under funded.  Unfortunately, my experience is similar to so many others and has fueled me to want to make a difference. To this end, I serve on the Rolfe Pancreatic Cancer foundation board dedicated to funding early detection research that is critical to improving pancreatic cancer patient outcomes. With increased awareness and research progress, hopefully no other families will have to experience a similar tragedy.

To learn more about pancreatic cancer, please visit our foundation’s website.

SAVING HENRY

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By: Amanda Kasper

This is a story about the power of love, and the promise and limits of science.
It is a story in which politics, ethics, and advances in reproductive genetics collide.
It is a story of the group of physicians who took our family 
To the outer edge of science and into the whirlwind of national controversy. 
It is a story about a family's search for a miracle, and the children who lived to tell the story.
Finally, it is a story of a remarkable little boy who taught me and countless others 
What is important and what just doesn't matter at all; 
Who showed me how to live well and laugh hard even 
In the face of odds you'd have to be crazy - or full of hope - to bet on. 
..Laurie Strongin, Saving Henry.

I picked up a book that has been sitting on my bookshelf for months now. Grad school and finals and paper writing got in the way, and the book waited for me until I was ready to sit down, curl up, and begin a story that would forever become ingrained in my heart.

From page one, I was captivated by the acknowledgements, by the photos, by the lists of Henry's Favorite Things. As someone with a strong interest and background in the sciences, and someone who is advocating for new genetic technology and genetic testing to prevent families from living the Strongin's story - this book held my fascination and empathy and love right in the palm of its hands.
 
Saving Henry is a book written about Laurie's son Henry, who was born with one extra thumb, a heart defect, and a relatively low birthweight; and two weeks later was diagnosed with Fanconi Anemia - a fatal Jewish Genetic Disease. The book chronicles their time as a family, every up and down and every single effort Laurie and her husband Allen went through over the seven years, one month, and sixteen days of Henry's life - not just to save him, but to ensure and allow and encourage Henry to live his life; the life he was given.

By far, the biggest lesson that I took with me, one that I think everyone should hold in their hearts no matter if they are sick or healthy - is not to take one single day, one single moment for granted.

Knowing that Henry's health would not always be as good as it was at this time led us to recognize the importance of living each day to its fullest. We believed that one Halloween costume was never enough and that, with its complement of calcium, ice cream was more than a suitable dinner. Over time we became masters of good living, which would later come in handy when there wasn't much to work with. -Laurie Strongin

Henry's story is filled with magic and appreciation and relization for every small thing that is actually a big one, and we should each appreciate those things no matter if we're fighting for our lives or our jobs or just to get through traffic. There is something to be grateful for each day, many things to be grateful for each day, and it is our job to notice them. To treat ourselves to them. To say I love you one more time. To share one more eskimo kiss, and eat one more Krispy Kreme donut.

The world is a better place because of Laurie, not just in the eyes of Fanconi Anemia or prenatal genetic diagnosis (PGD), a field that Laurie helped to pioneer and serve as the test subject for all at once, but in the way she is a parent to her children. That she fulfilled a lifetime of fun and special moments and love and memories in seven years worth of living, and that she was strong enough to survive possibly the worst thing in the world - the burying of a child, after doing everything, everything, in her power and with the power of science and the best doctors in the world, to save him.

This book, and Henry's story reminded me why I am so passionate about the vision and the mission of the Norton & Elayne Sarnoff Center for Jewish Genetics, and why myself and others hold it so fiercely in their hearts.

ALEX'S CHROMOSOME: THE JOURNEY TO CORRECT DIAGNOSIS

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By: Alexandra Rudolph

Imagine if you had a chronic condition and no one could find a correct diagnosis. That was the problem facing Jessica Denbo, 25. As a child, Jessica was always sick and fatigued. She visited specialist after specialist, and even her physician dismissed the idea that she could have a disorder. Years later, Jessica was finally diagnosed with Type 1 Gaucher Disease.

"My road to a Gaucher diagnosis began at a very early age. As a child I was always sick and no one could ever really figure out what was wrong. I was misdiagnosed numerous times and went from specialist to specialist — even ending up at Johns Hopkins when I was in fifth grade — with no success. My main complaint had always been fatigue, and I was never able to go out and play like other kids my age. At some point in elementary school, my grandfather saw an 'ad' about Gaucher in a Jewish publication, which included a list of symptoms. As you know, Gaucher symptoms can be quite vague, but he sent off for a few copies for my mom to give to my doctor. The idea that I had this disorder was immediately dismissed by my physician and I continued having symptoms throughout my youth.

"The summer going in to my senior year of high school, I worked as a camp counselor. Throughout the months I was there, I started having dizzy spells and went to have blood work done when I finally returned home. My doctor was alarmed because my platelet and blood counts were severely off, so he sent me to the children's hospital at UAB to see a hematologist/oncologist. After many more tests, including two bone marrow aspirations, I was finally diagnosed with Type 1 Gaucher Disease. I immediately began treatment in the spring of 2004, at the end of my senior year in high school.

"I have now been on Cerezyme for 7 years and have been able to fix much of the bone and organ damage that had already occurred, although my levels will never be normal. On a day-to-day basis, I feel the effects of the disorder in the form of constant fatigue. Even though the treatment has helped in a lot of ways, nothing has ever helped the fatigue, which has been my biggest frustration. While it is treatable, the thought of living with Gaucher for the rest of my life is definitely a hard pill to swallow. At 25, I have to worry about doctor appointments, infusions and health insurance on a constant basis. As I have grown older and become more comfortable talking about my condition, I have tried to educate my peers about genetic testing and Gaucher disease specifically.

"In terms of recommendations for prospective parents, my biggest push is towards understanding the risks and educating themselves as much as possible. My parents did everything right, they both got tested before they started a family, but at the time Gaucher disease was not on the panel. So my final recommendations would be to stay abreast on the genetic testing panel after having children and to make sure their physicians know if they are Jewish in case something new has been added that they were not tested for in the beginning."

Jessica and her family took full responsibility for pushing healthcare professionals get an accurate diagnosis. They kept asking questions, repeating laboratory tests, seeing specialists, and getting second opinions. It was her grandfather, not the physicians, who came up with the initial diagnosis.

As a future physician, and as someone who had a serious misdiagnosis as a child, I find it critical for healthcare professionals to help make the best diagnosis for patients—even if that means referring patients to another professional. As a patient, make sure you confident about your diagnosis when leaving the examination room. If you have further questions or need would like a second opinion, take responsibility for your health and ensure yourself a truthful diagnosis. Be your own health advocate.

Baby1

We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!

CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Be sure to check with your relatives for warning signs and assess your risk for hereditary cancers!

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more !