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Center for Jewish Genetics blog

A Personal Perspecitve

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A PERSONAL PERSPECTIVE

By: Sivan Schondorf – October 2, 2015

L'dor vador--"from generation to generation"--the Hebrew phrase heard in prayers and song. As a grandchild of Holocaust survivors, I understood from a young age that a thread connects one Jew to another through our history of shared values, traditions, Torah, endless persecution, and continued survival. Today, we know this thread goes as deep as our DNA. 

In 2000, my 49-year old aunt, Linda Ben-Ami, originally diagnosed with stage II breast cancer, received a terminal prognosis. She was the matriarch of our family and was raising two teenage boys. We were derailed.  

The tailspin deepened when not only Aunt Linda, but my grandmother, mother, and other family members learned they carried one of the main Ashkenazi BRCA1 genetic mutations-one that almost guarantees aggressive triple negative breast cancer. TheBRCA1 mutation also brings with it a high risk of ovarian cancer and several other elevated cancer risks for both men and women.  

In the months that followed, my grandmother had a first time breast cancer diagnosis, my mother had a risk-reducing mastectomy with reconstruction and an oopherectomy to remove her ovaries and fallopian tubes-- and Aunt Linda died.  

It was not a good year.  

While we mourned, we were also desperate for answers about our futures. At 19, I was considered too young to test. But it was clear that this was a multigenerational health issue.  

Five years later, I learned I also had the BRCA mutation.  

From my grandmother, to my mother, to me. L'dor vador . 

I tried to think about BRCA solely during my biannual checkups, but my concerns would bubble up when I heard of someone's passing to cancer, or dated someone who didn't know my BRCA status. I participated in all the recommended studies, but I realized doctors were performing tests that would catch cancer, not prevent it. I needed to make a change before I was swallowed up by my feelings, my stress, or by cancer. 

Just shy of my 28th birthday, I underwent a risk-reducing double mastectomy with immediate reconstructive breast surgery. The decision was daunting, but not difficult. I changed my destiny, lowering my lifetime breast cancer risk from nearly 90 percent to less than 5 percent-lower than the average woman.  

People might wonder if I lost my identity or my womanhood. My only answer: I found a new normal. I feel healthy and strong, with fabulous aesthetic results. While I sacrificed the ability to breastfeed, I have the opportunity to see my children grow, to be there for their simchas and for their life challenges. 

My choice was not the only option. Some women choose lifetime surveillance or chemoprevention over surgical intervention. Every woman approaches decision-making differently, based on factors such as age, community and family support, personal experience, perception of cancer, or unrelated medical conditions. There is no single right decision, only the right balance of risk for an individual. 

Knowing my genetics early in life gave me a window into my future, and like a "choose your own adventure" book, I took a different path. However, my family's journey continues. I monitor my ovaries and will soon enough need to remove them and deal with the effects and management of early surgical menopause. I have cousins beginning their own journeys, and one day, I will tell my children about BRCA. The next steps will be their own. 

Although Aunt Linda died far too young, she saved so many in our family. My family's commitment to educating others and being proactive with our own health mean she did not die in vain. We picked up the pieces of our family as best we could and shifted our focus to healing and health.

When I look at my sweet daughter, whom we named Maya Linda, I am constantly reminded of the beauty and love my Aunt Linda carried, that came from my grandmother before her, and was passed on to us. L'dor vador .  

Sivan Schondorf is the Chicago FORCE Volunteer Coordinator(Facing Our Risk of Cancer Empowered, www.facingourrisk.org ) and a long-time friend of the Center for Jewish Genetics. 

This article was orginially posted in JUF News, October 2015. Many thanks to JUF News and Sivan for sharing this story. 


 

October is also Gaucher Disease Awareness Month!

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GaucherAwareness

One in four Jews is a carrier for one of 19 life-altering Jewish genetic disorders. Being a carrier means that although you might be completely healthy with no family history of disease, your future children may be at risk, and the only way to find out is to get screened.

Gaucher Disease is one of 19 conditions seen more frequently in the Ashkenazi Jewish population. Approximately one in 12 Jews is a carrier for this condition, making Gaucher Disease one of the most common genetic diseases seen in the Jewish community. Some of you may ask: Gaucher Disease, how have I never heard of this condition if it is supposedly so common in my community?

The Norton & Elaine Sarnoff Center for Jewish Genetics is leading the nation when it comes to educating individuals on exactly this topic! In addition to Breast Cancer Awareness Month, October is National Gaucher Disease Awareness Month.

Approximately 1 in 40,000 to 60,000 people in the general population have Gaucher Disease. However, among individuals of Ashkenazi Jewish descent, the incidence is 1 in 450. This means that Gaucher Disease is over 90x more common in the Jewish community!

So what exactly is Gaucher Disease?

Gaucher disease is an inherited genetic disorder. There are multiple types of Gaucher disease and Type I is the most common form of this condition. Individuals with Gaucher Disease have a problem with a gene that makes the enzyme glucocerebrosidase. The job of this enzyme is to break down a particular fatty substance called glucocerebroside. Since individuals with type 1 Gaucher have a problem with this particular enzyme, the fatty substance accumulates over time in various organs of the body. The accumulation most often occurs in the spleen, liver, and bone marrow.

What are some signs and symptoms of the condition?

Type 1 Gaucher disease does not involve the nervous system (brain/spinal cord) and is the mildest form. The signs and symptoms can be variable; some individuals have no symptoms and lead normal lives, while others may experience many of the symptoms and need life-long treatment.  The age of onset is widely variable and the disease may appear anytime from childhood to adulthood.

The major clinical symptoms include:

  • Enlargement of the liver and spleen (hepatosplenomegaly).
  • A low number of red blood cells (anemia).
  • Easy bruising and nose bleeds caused, in part, by a low level of platelets (thrombocytopenia).
  • Bone disease (bone pain and fractures).
  • Fatigue

 Is there treatment available?

Gaucher disease is very effectively treated with infusions of enzyme replacement therapy (ERT). Treatment with ERT has been shown to reduce the size of the liver and spleen and normalize hemoglobin and platelet values.  Prolonged treatment, over the course of two to four years, has been shown to reduce the rate of bone loss, improve bone pain and reduce bone crises.  ERT is available for the treatment of both children and adults with type 1 Gaucher disease.

An alternative to ERT is an oral medication that reduces the amount of the fatty substances that accumulate in the body—substrate reduction therapy. This therapy has been shown to reduce the size of the liver and spleen and normalize hemoglobin and platelet values.  This therapy is currently only available for the treatment of adults with type 1 Gaucher disease.

What can I do?

EDUCATE

Knowledge is a powerful tool and can help you make important strides for a healthy family and future

Get Screened!

The Sarnoff Center is the first community screening program that is exclusively using an advanced DNA sequencing test that allows you to be screened from the convenience and privacy of your own home, with just a small saliva sample. A short live-webinar provides you with the education and genetic counseling you need to understand carrier screening, and what your results could mean, as well as what your future options are for a healthy family if you are found to a carrier. The webinar can also answer any other questions you may have, and Center staff members are available throughout the process if you have any further questions or concerns. Then, before you know it, a saliva kit arrives at your front door.

Empower Yourself!

One small saliva sample, and you can arm yourself with potentially life-saving information. Seems like a no-brainer, right?

Please feel free to contact Elayne Goldman at ElayneGoldman@juf.org with any questions or concerns

Resources:

National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA   30084
ngf@gaucherdisease.org
http://www.gaucherdisease.org
Tel: 800-504-3189
Fax: 770-934-2911

Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA   95746-2123
research@childrensgaucher.org
http://www.childrensgaucher.org
Tel: 916-797-3700
Fax: 916-797-3707


 

Testing Update: Dor Yeshorim Expands to the Sephardic Community

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by Karen Litwack

Dor Yeshorim (DY), a confidential premarital genetic screening program has been in existence for over 30 years and has successfully prevented over 4,700 families from the potential of having children born with a genetic disease. 

Constantly seeking to help prevent the birth of affected children in the Jewish community, DY invests heavily in ongoing genetic research to identify disease-causing genetic mutations. Recently, DY began to expand its reach, launching a Sephardic genetic screening initiative that tests for genetic diseases that are commonly found among the Sephardic community. “Many people have the misconception that genetic diseases are something that only affects the Ashkenazic community. Yet, that is not the truth. In recent years, many families from the Sephardic community have begun reaching out to DY for genetic assistance as they too have given birth to children with fatal and debilitating genetic diseases.”[1]

“Dr. Ohad Birk, the head of the Genetics Institute at Soroka Medical Center, located in Be’er Sheva in Israel, believes that the dearth of research done around Sephardic genetic diseases is partially due to the fact that the genetic dynamics of the Sephardim are more complex than those of the Ashkenazim. While Ashkenazim hail from various countries, they are all susceptible to the same genetic diseases. Sephardim however will have different genetic diseases and mutations depending on their country of origin. This adds an additional layer of complexity when setting up a panel for genetic testing.”[2]

It is important to note that certain genetic diseases that are on the Ashkenazi panel can also be found among the Sephardim. There are also genetic diseases found only among the Sephardim. Due to this variability, DY recommends that all Sephardim be screened for genetic diseases whether their partner is Sephardi or Ashkenazi.

Those who joined the Dor Yeshorim program after January 2016 and indicated they were of Sephardic descent were automatically screened for both DY’s Ashkenazic and Sephardic panels. Those who were tested by DY before this time period should call the Dor Yeshorim office to update their information. An additional blood specimen is not needed in most cases.

For the full article – go to http://www.communitym.com/article.asp?article_id=104179

Please visit the DY website at http://doryeshorim.org/sefardi-non-askenazi-panel/  or contact them at 7148-384-6060 or email info@DorYeshorim.org  for a detailed explanation of their programs and services.

IAPA Sponsored Law Advancing Scope of Practice

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by Elayna Shanker

This past weekend was monumental for local PAs as Governor Rauner signed the Illinois Academy of Physicians Assistants rules and regulations cleanup bill into law on July 15th! With virtually no opposition and 17 cosponsors of both parties, this bill was signed into effect weeks before expected.

As an initiative of the Illinois Academy of Physician Assistants (IAPA), the proposal clarifies health rules, regulations, and responsibilities of employment for local PAs in a manner consistent with the Illinois PA Practice Act. The bill was proposed in an effort to elucidate the duties of PAs in the rapidly changing field of healthcare. Congratulations to all of our friends and partners in the PA community!

Read more here: http://us6.campaign-archive2.com/?u=ecbc42f03d756c82c22d8dbb3&id=1e452f1d14

'Holy grail' of Breast Cancer Prevention Might Be in Sight

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by Elayna Shanker

Approximately 1 in 40 individuals of Ashkenazi Jewish decent are carriers of the BRCA mutation—a mutation in a tumor suppressor gene that puts individuals at a much higher risk of developing both breast and ovarian cancer. For too long, individuals who carry a faulty BRCA gene have had limited options: either they manage the risk of developing a fatal condition, or they undergo life-changing surgeries where breast tissue and/or ovaries are surgically removed. There are no known preventative methods that reduce the risk of cancer for patients with mutated copies of this gene.

Fortunately, researchers at the Walter and Eliza Hall Institute have identified a drug that may inhibit the development of breast cancer caused specifically by mutations in BRCA1. This drug, denosumab, has historically been used to treat patients with osteoporosis and forms of bone cancer as it is known to inhibit the cellular signaling pathway important for osteoclast (bone cell) differentiation1. This same pathway, however, was recognized in cancer precursor cells taken from BRCA1 mutant breast tissue2. In a laboratory trial, inhibition of the pathway via denosumab resulted in decreased cell growth and proliferation—making it a realistic treatment for cancer delay or prevention2. Clinical trials are already underway to test the effectiveness of denosumab outside of the lab.

These findings are monumental for both cancer research and genetic screening. At the Center, we are hopeful that denosumab will, one day, be an effective and noninvasive option for carriers of the BRCA mutation!

Read the full article here: https://www.sciencedaily.com/releases/2016/06/160620120247.htm

 

(1) Bruhn, C. "[Denosumab. The first inhibitor of RANK-ligand for treatment of osteoporosis]." Medizinische Monatsschrift fur Pharmazeuten 33, no. 10 (2010): 370-375.

(2) Walter and Eliza Hall Institute. "'Holy grail' of breast cancer prevention in high-risk women may be in sight: Existing medicine may prevent cancer in women with breast cancer risk gene." ScienceDaily. www.sciencedaily.com/releases/2016/06/160620120247.htm (accessed June 24, 2016).

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 !