We wanted all of our readers to see the PSA that Lea Thompson from Back to the Future did for us.  It’s short, sweet, to the point,  and informative.  She keeps things positive reminding us that getting screened, and maybe learning you are a carrier of a Jewish genetic disease,  is GOOD news because “knowledge=options”.

Click on the link above.  Learn about Jewish genetic diseases and the need to screen for all 19! Then, share this link with your friends and family.  As a reader of our blog, you know the importance of being screened, but have you taken it a step further to tell your friends, family, co-workers, neighbors…anyone you know who has at least one Jewish grandparent?!  Do a mitzvah and spread the word today!

1. If you, or someone you know, are thinking about having a child you should be screened for all 19 preventable Jewish genetic diseases.

2. Even if you have a healthy child, it is important to update your screening with each pregnancy as we’re always discovering new diseases and adding them to our panel.

3. People with no family history of disease could still be carriers. A carrier is a healthy person and when two carriers of the same disease have a child, they have a 25% chance of passing that disease onto their child.

4. You can get screened through Atlanta Jewish Gene Screen at one of our community screenings OR by making an appointment with our genetic counselor, Karen Grinzaid: 404-778-8516 or Karen@atljewishgenescreen.org. You can also visit your physician or OB/GYN.

5. If your relatives have been tested and were not carriers of a disease, it does not mean that you are not a carrier. Every family member should be tested.

6. Not all of the diseases on our panel are unique to the Jewish people. As such, it’s important even for interfaith couples to get screened.

7. Couples considering egg or sperm donation should be screened as well.

8. If you have been screened, you should spread the word to your friends, families, neighbors, co-workers, etc. Not everyone knows that there are 19 diseases on the Jewish panel and what a great mitzvah to help inform everyone and ensure healthy children for future generations.

9. If you have any questions about screening or Jewish genetic diseases, please contact us.

10. All of the disease we test for are preventable. The most exciting advancement and way to prevent these diseases if you and your partner are both found to be carriers is through
preimplantation genetic diagnosis (PGD). Our genetic counselors will talk to you about what it means to be a carrier, how to prevent passing on a disease to your child and what all of your
options are. GET SCREENED TODAY. KNOWLEDGE=OPTIONS.

I have truly enjoyed (and been inspired by!) my work with Atlanta Jewish Gene Screen, which makes my departure from the organization bittersweet. While I will miss working on such a vital project to the community, I am excited to pursue an opportunity that combines two things that I am very passionate about – higher education and Hebrew language. This fall, I will be teaching Hebrew full time at Emory University.

I want to take this opportunity to say thank you. First, to all of the wonderful volunteers I have met and worked with while with Gene Screen – we succeed because of your help! I also want to thank all of our community partners – it has been wonderful getting to know you all, and I’m so glad that we have been able to collaborate on so many levels! I hope that these partnerships continue to stay strong. Finally, to the rest of the Gene Screen team – it has been a pleasure working with you, and I look forward to seeing and hearing about all of the great things you’ll be doing in the future!

We do constant outreach to educate people about the importance of being screened for nineteen. But, among the groups that are most significant are doctors. Because of their influence on patients’ reproductive health and children’s health, OB/GYNs and pediatricians in particular are our focus.

Over the last year, we have made great inroads–we’ve lowered the price of screening at AJGS to a maximum cost of $25 with insurance. We’ve found out that 1 in 4 Jews is a carrier for at least one of nineteen JGDs (it was previously considered to be 1 in 5). We’ve hired several medical liaisons whose sole job it is to call on our target list of 1,100 OB/GYNs and pediatricians who see a high proportion of Jewish families in the metro Atlanta area. Since November we have covered more than half of these offices. Every weekday we see a group of usually four to five doctors within one practice that also includes physician assistants, nurse practitioners and office managers. Each one will play a key role in supporting the AJGS initiative.

We’ve also had a lot of challenges. Physicians are overwhelmed with public health issues so breaking through the clutter can be difficult. But, on the whole, physicians are very receptive and open to learning more about how they can help prevent Jewish genetic diseases. One of the major issues we face now is that the American College of OB/GYNs and the American College of Medical Genetics guidelines now mandate testing for only nine diseases in total. Doctors are being told that this is the standard of care even though there are 19 preventable diseases. This needs to change.

Another challenge we see is that OB/GYNs often don’t see patients until post conception. The result is that they don’t have conversations with patients before they become pregnant, when the most reproductive options are available to them if both members of a couple are found to be carriers.

Even for those OB/GYNs (the primary focus of our outreach) that do see patients before conception, standard intake forms do not include ethnicity so it’s often difficult for physicians to know with whom they should be having the discussion about Jewish genetic diseases. Our challenge is to urge doctors to revise their intake forms so that more productive discussions can happen and more screenings take place.

Yet another obstacle for doctors is that the interpretation of the genetic data gathered from the screening can be complicated. It is not unusual to get a forty-page report back from the lab. Our goal in the years ahead is to reach out to the labs to simplify these reports.

Two of our most passionate ambassadors for the prevention of JGDs are Dr . Jeff Korotkin and Dr. Richard Zane. They have reached out to their peers to educate–helping set up grand rounds in hospitals across Atlanta and zealously leading the charge of bringing screening information directly to patients and other doctors. They have been essential members of our physicians’ advisory board—a group of 15 physicians—with whom we meet several times a year to gain feedback on how we can conquer the challenges of JGD education. Karen Grinzaid, our genetic counselor, is also a key member of our team and has done a sensational job educating physicians.

In the months and years ahead, we will continue to bring all our energy and creativity to getting the word out that it’s more than just Tay-Sachs (and move toward a goal of eradicating all JGDs) and how important it is for physicians to talk to patients earlier than later about getting screened at routine appointments when reproductive options are greatest.

What has your experience been with getting to know the facts about the importance of screening or being screened, either through AJGS or with your doctor? We’d love to hear your stories…

• Is it a cheek swab?
• Can my doctor do it?
• When is the next community screening?
• What if I can’t make it to a community screening that AJGS is hosting? Can I still get screened
• through them?
• What if I don’t live in Georgia, where can I be tested?

For starters, our test is a simple blood test. Blood allows us to be thorough and accurate, testing for all 19 currently known and preventable Jewish genetic diseases.  In fact, for Tay Sachs we not only screen for DNA but also for the enzyme to insure accuracy and reliability.

You can certainly get screened by your doctor. We have a page on our site for healthcare professionals that will explain how the process to your healthcare provider. We have found that not every doctor knows that there are 19 preventable genetic diseases.  Please have your doctor work with us to ensure you are properly tested if they have any questions. Also, it’s important to note the pricing with your doctor will likely be different than our our $25 maximum fee for insured patients.  If screening in the physician’s office is not affordable, Atlanta Jewish Gene Screen can provide financial subsidy for those with financial hardship.  Please apply on our website.

Atlanta Jewish Gene Screen typically hosts at least six or more community screenings a year (and the number is growing) in a variety of locations such as the Jewish Community Center, local synagogues, and college campuses. It’s important to note that no matter where the screening is held, ALL are welcome (for example, if it’s held in a synagogue, it does not mean that you have to be a member of the synagogue to participate in the screening). If the date, time and location are convenient for you, please join us no matter where we are holding the screening. Please check our website for upcoming screening dates, times and locations. Another important thing to note is that walk-ins are always welcome. If a time slot you prefer during a screening might appear to be closed, come anytime that works with your schedule and we’ll make it a point to fit you in. Pre-registration is preferred, but not necessary. We just
want everyone to be screened and we’ll do what we can to serve you accordingly.

If you cannot make a community screening, you can make an appointment ANYtime to come to Emory University and have our genetic counselor, Karen Grinzaid, draw your blood and provide you with the same kind of genetic counseling you would receive at one of our community screenings. You do not have to wait for a screening, or go out of your way to attend a screening that is not convenient for you for whatever reason. Simply connect with Karen and she’ll be happy to help. Patients will be charged a maximum cost of $25 (which, again, could be cheaper than through your doctor) plus an additional fee for genetic counseling.  To make an appointment contact: 404-778-8516 or Karen@atljewishgenescreen.org.  If you do not have insurance, please contact us.  Financial assistance is available in cases of financial hardship and you should call us for more information on that.

If you don’t live in Georgia, we again recommend that you contact Karen.  She’ll be able to instruct you on how to ensure that you are still screened as needed.

What other questions do you have about screenings? How can we help you screen (or update your screening)? Let us know.

A rabbi at my temple is renowned for giving the most entertaining and clever services of the temple. Not only is she a vibrant, intelligent, eloquent person, but also a role model. She teaches tolerance and love in ways that makes everyone want to follow her advice. For example, at Rosh Hashanah services this year, she based her speech on the musical “Rent.” It was a cultural icon that many generations could relate to, and she incorporated ideas about the treatment of gays, lesbians and transgender. She inspires me to love as much as I possibly can.
L., 19, California

My hero happens to be my mother because she overcame many obstacles in raising us. She was so strong and determined to succeed in life that I was inspired by her to never give up and, when I fell, dust off the dust and keep going.

R., 56, Brooklyn, New York

My hero is my grandfather, who passed away a few years ago. My grandfather had four children, nine grandchildren and four great grandchildren. He fought on D-Day in WWII and spent his life as a blue collar worker. He never had a lot of money, but always made sure that there was a loving household for his kids and grandkids to visit. There was always an abundance of food on the table and he never griped about money or work. I aspire to be like him every day.

A., 34, Texas

My brother has been my hero since I ever had a brother. He has always been there for me, spiritually, emotionally and he would give me the shirt off his back if I needed it. I am endlessly  blessed to have been given a brother as beautiful as he is.

R., 30, Wisconsin

My pastor is my hero. Whenever we work on something for the good of the community like the grocery ministry, food for school kids, the blood drive or Habitat for Humanity (www.habitat.org) he always says. “I see God in you” and it inspires and motivates me everyday to do more, to be more and volunteer for more in service of others.
D., 25, Virginia

My hero is my daughter, who is currently stationed in Afghanistan, and has a deployment to Iraq under her belt. Through hard work, dedication, discipline and a sense of team and belonging, she morphed from an insecure woman in her early 20′s, aimless, self destructive, and unfocused, into a self assured, team-oriented, emotionally strong, focused woman, mother, wife and daughter. It has been horribly difficult for her to be deployed not once, but twice, far away from her children, but she has truly grasped the, “If you don’t stand for something, you’ll fall for anything,” concept. What a legacy and lesson to pass to your children! Home in May 2012!!!

M., 45, Florida

Chickpea, as we lovingly call our little girl, is growing just as she should be.  My weight gain is right on track, her growth is where it should be, her heartbeat sounds strong, and all seems to be going well.  We are slowly getting things together, cleaning the house, asking advice on baby registry items, working with the rabbi for a date for the baby naming, etcetera.   There is still plenty of time.  We want to be prepared if she comes early, but don’t want to jinx what has been such a good thing so far.

I know I mentioned it in my first post about pregnancy, but I can’t stress it enough.  I am really thankful I was screened for Jewish genetic diseases.  I am a very planned person, very type A.  My husband and I have a Google spreadsheet with a variety of tabs:  one for day cares, one for items our friends recommend, one for chores to be done around the house to prepare for the baby, one for articles we want to read and more.  We are planners, but you can only plan for so much.  There is so much unknown ahead which is so very exciting in so many ways, but creates some worry, too.  What will Chickpea be like?  Will we be good parents? I could go on and on with all the questions we have.  We can’t know that Chickpea will be perfectly healthy.  But what we can control in pregnancy, we did.  We got screened and, thankfully, we are not a match on any diseases.  There are so many unknowns to worry about and be excited for, I can’t imagine adding one more (well, technically 19 more ) to our plate now.  As the big day approaches and we know we’ll soon meet our daughter, we know that we did all we could thanks to Atlanta Jewish Gene Screen.  We’re so excited and can’t wait to fill you in on the final weeks of pregnancy!

Here are some events to look out for during the next month:

April 25: Atlanta Jewish Gene Screen volunteer training: please let Keren know if you want to join this conference call.  We need informed volunteers at a variety of events around the city and we’d love to tell you all about AJGS so you can help spread the word. We know how powerful word of mouth is!

April 29: AJGS Community Screening in Toco Hills.  Register here: https://www.victorcenters.org/screenings/Default.aspx?eid=54

April 29: Israeli musician David Broza performs in Atlanta: http://www.facebook.com/events/335015246545522/

May 1: Jewish Educational Loan Fund (JELF) special event with Mara Davis: http://www.jelf.org/maradavis/

May 3: Jewish Family and Career Services Community of Caring Luncheon: https://yourtoolsforliving.org/donate/sponsorship/cofc

May 9-13: The Atlanta Jewish Music Festival: http://atlantajewishmusicfestival.org/

May 21: Buddy and Gertrude Elias, Anne Frank’s Family, an MJCCA Book festival event: http://www.atlantajcc.org/pldb-live/special-events/15407/?back=pldb_active

If you know of any other events you think AJGS should be present at or post, please let us know! We hope to see you all at these events. We appreciate that all of our community partners with whom we collaborate ensure that everyone who attends these events knows about screening for the 19 preventable Jewish genetic diseases!

At the shiva following my dad’s funeral, Randy related to me the story of how, soon after learning of Eden’s condition, they were at a Shabbat dinner to which my parents had also been invited. Randy confessed that at the time he wasn’t sure about breaking bread with someone who had just told him that his daughter suffered from a severe disease. Caroline remembers too how strange it felt at first to socialize with her daughter’s doctor—the man everyone with a sick child wanted to see. But it wasn’t long before they discovered a natural affinity that blossomed into friendship. Over the course of many more visits and phone calls, they talked not only about how best to care for Eden, but also about initiating a community-wide screening program for Atlanta’s Jewish population.

Less than a year later, the program was a reality. It needed a medical head, and my dad proved a natural choice. In the last few years before his death, he and Randy traveled around town together, taking their common vision of “Screen for 19″ to donors, physicians, community leaders and the public. Throughout this time, my dad spoke about the Golds with gratitude and admiration, understanding first-hand the enormous common good that would come from their decision to share Eden’s story.

Medical genetics has enabled many individuals who would not have survived beyond childhood a generation ago to lead relatively normal lives.  The implementation of novel treatments has led to effective control of some once-lethal disorders. As the head of programs like Emory’s enzyme replacement clinic for lysosomal storage disorders, my dad oversaw multiple clinical trials to evaluate new drugs and therapies, and was actively engaged in the search for more. Seeing a person doing well because of these interventions brought him immense gratification. Photos of him with his patients typically show both of them with sleeves rolled up and biceps flexed. For my dad, this pose must have served as an implicit encouragement to that person to stay strong and fight on.

Yet, as good as some treatments have become, my dad also knew that many genetic diseases have no happy endings. There is another photo of him that appeared in the newspaper a few years back, describing his work as medical director of the children’s program at Hospice Atlanta, a job he took because so many of his young patients did not recover, did not thrive. He is holding the hand of one of them as she lies in a hospice bed. The look of sober sadness etched on his face never fails to bring tears to my eyes. It is this picture that most sums up the goal of his entire career and of Gene Screen too: not just treating children who are already affected, but preventing tragic outcomes altogether by giving people knowledge of their carrier status before they have a child or add another one to their family.

For someone like me, who is blessed with a healthy four-year-old, it can all seem a bit abstract. But it wasn’t for my dad or for the families he helped every day. Living in modern times, we have access to an ever-expanding array of medical technologies to detect life-threatening diseases. Here in Atlanta, we are similarly blessed with a superb network of genetic counselors, Jewish leaders and dedicated volunteers who are working hard to help our next generation lead longer and healthier lives.  Being a part of this worthy effort takes just a bit of foresight on our part.

My dad’s ultimate aim was to make this foresight available to everyone so that the heartache of disease would not continue being passed down within a family. As a human being, he was a shining example of the amount of good one person can accomplish in his or her lifetime.  My family and I, and his colleagues and friends, miss him so much, but we know his legacy continues through programs like Atlanta Jewish Gene Screen. I believe with all my heart that right now, he is somewhere smiling, his sleeve rolled up and his bicep flexed, encouraging us to stay strong, fight on and keep up the good work.

Dr. Paul M. Fernhoff was Associate Professor of Human Genetics and Pediatrics at Emory University and medical director of the Lysosomal Storage Disease Center at the Department of Human Genetics. He also served as Medical Director of the Pediatric Program of Hospice Atlanta and, most recently, of Atlanta Jewish Gene Screen.  Named one of the city’s top doctors by The Atlanta Business Chronicle, he was the recipient of Lifetime Achievement Awards from the Georgia Chapter of the March of Dimes and The Georgia Academy of Pediatrics.  He is survived by his wife, Deborah; his daughter and son-in-law, Shana and David Cohen; his son, Nathaniel and his granddaughter, Talia.

diseases that affect 1 in 4  Jews,” more recently, the question shifted from why anyone should get screened to why “I,”  a twenty-one year old college student get screened? I have no intention of getting married or starting a family in the near future and yet, the notion of getting screened is not something I dismiss in my own life. Simply put, the most important reason for me to get screened is knowledge. Knowledge really is power, and the knowledge of what genetic disease I may or may not be carrier for is useful information to have for the future. This is not to say that this is information I will be using daily, but rather, using when warranted.

So the real question isn’t “why get screened” but rather “why get screened right now.” One good reason is that screenings cost only $25 if you have health insurance. To learn about your genetic makeup for only $25 is less than the co-pay to see a private geneticist for similar results. Genetic testing normally costs thousands of dollars for the test and then additional fees for the doctor’s time. This problem of exorbitant fees is solved through our reduced fee. We have  advocated for a dramatically reduced cost  so that the largest number of Jews will be screened before making the decision to start a family.

Another reason to get screened “right now”: If you  and the organization or group you are a part of, sign up to be screened at Emory University on April 18^th, and you have the highest percentage of sign ups, then you can get a $25 gift card to Amazon as well as a pizza party for your entire organization.

There is no time like the present to learn more. Genetic diseases are preventable, however the only way to do so is by learning where you stand with them. Remember to get screened this coming Wednesday at Emory!