Hi I have CF, But It Will Never Have Me followers. My name is Robin, and I am here to share an important message with all of you: 1 in 4 Jews is a carrier of one of 19 preventable Jewish genetic diseases. Cystic fibrosis is one of the 19 diseases we test for so keep reading!
• Not Jewish? I’m sure you know someone who’s Jewish (a friend? Neighbor? Co-worker?). Also, it’s important to note that the diseases on our panel are more prominent in the Jewish community, but not unique to Jews. For example, CF is common in Caucasians in general, not just Jews.
• In an interfaith relationship? As mentioned, many of th1 9 diseases we test are not unique to the Jews (even Tay Sachs which many think is strictly Jewish, is actually found in the Irish community).
• Don’t practice Judaism/identify as Jewish? It only takes one Jewish grandparent for you to have “Jewish genes” and thus potentially be a carrier for one of these 19 PREVENTABLE Jewish genetic diseases.
• Been screened in the past? We are finding new diseases all the time. If you have one healthy child already but are thinking about expanding your family, you were likely not tested for all 19 diseases and, as such, should update screenings between each pregnancy.
• No family history of disease? All Jewish genetic diseases are recessive, so you and your partner must be a match in order to be at risk of passing it on. A carrier does not show symptoms of the disease, but is rather a healthy person and if two people are carriers of the same disease they have a 25% chance of passing it on to their children.
So, what’s the story? What are these diseases? How are they preventable?
I work for Atlanta Jewish Gene Screen so, for starters, you can check out our website. But, I’ll try to give you Jewish genetic diseases (JGDs) basics. Atlanta Jewish Gene Screen is currently the only organization of its kind. We aim to raise awareness that there are 19 preventable JGDs because, when we first started the organization 2 years ago, a typical person (including the average healthcare professional and the average rabbi) admitted to only knowing about 3 diseases. Two years ago Randy and Caroline Gold, an active Jewish couple in Atlanta, founded the Atlanta Jewish Gene Screen when their daughter, Eden, was diagnosed with ML4. The average ML4 patient will never learn to walk or talk, will be blind by the age of 10, and will likely not live past young adulthood. Randy and Caroline knew to get tested (something that I stress because not every Jew does know this and thus doesn’t actively request it from their doctors). Nonetheless, Randy was tested by his Jewish doctor for only 2 diseases. Caroline was only tested for 8 by her Jewish doctor. Randy and Caroline didn’t know what they didn’t know. Their doctors didn’t know what they didn’t know. Turns out they carry 3 diseases between them, but are only a match on one—ML4. They have one healthy child, 6 year old Natanel, and little Eden, 4 years old, who has Mucolipidosis type IV. Today they have a healthy third child, Shai who they had through in vitro (see below when I discuss ways of preventing these diseases).
So, as Randy would say, Eden is here to save lives; her story will save lives. Randy and Caroline set out to inform everyone about the number of diseases on the Jewish panel (at the time they started the organization 2 years ago, there were only 18 diseases, by the way). So, I am here to write Eden’s story on Andy’s blog in hopes of sharing her story, a story that Andy knows all too well, and to help prevent others from going through similar struggles.
We hope to inform every doctor and have them test for all 19. We hope to inform every rabbi and hope that the rabbis will counsel their congregations, particularly the young couples who are married/getting married and therefore at risk of passing these diseases on as they start families. We hope to inform the population at large—we know that not every pregnancy is planned and thus by the time you get to the doctor it could be too late. We also know that not every Jew is affiliated with a synagogue or gets married by a rabbi. So, we head to local festivals, happy hours, etc and hope to education everyone, particularly those in their 20s and 30s who are at risk of passing these diseases on. These diseases are preventable, but only if you get screened in advance and can take action accordingly. So, in addition to the educational component of our organization, we also host a number of community screenings a year and inform people how to get screened for the full panel of diseases by their doctors or though us if they can’t make it to a community screening date. We have also advocated with insurance companies and we’re happy to announce that right now, the cost of screening is only $25 if you have insurance (it was thousands of dollars when we started 2 years ago). A simple blood test is all it takes to learn if you’re a carrier—spread the word and get tested! Knowledge = options.
What are the options for prevention?
The most common and exciting way to prevent JGDs is through in-vitro fertilization. Through a process called PGD (pre-implantation genetic diagnosis) an embryo made from the mother’s egg and the father’s sperm (note that if you are gay and considering egg or sperm donation to have a child, this information is important for you to know as well) can be tested when it is just 8 cells. Because, as I mentioned above, each pregnancy has a 25% chance of having the disease, an embryo can be tested and one of the 75% /healthy embryos can then be implanted in the woman. 100% your child, 100% JGD free this is how Randy and Caroline conceived Shai). Other options include egg or sperm donation, surrogacy, adoption, or trying to conceive naturally and terminating a pregnancy if needed. Atlanta Jewish Gene Screen provides genetic counseling to discuss all of your options should you be a carrier match with your partner. You can marry who you want, you can have healthy children no matter what. You just need to get tested to be sure.
I think that covers the basics of JGDs. See a list and information on all 19 JGDs on our website.
Here’s a summary:
1. 1 in 4 Jews is a carrier of one of 19 PREVENTABLE Jewish genetic diseases
2. It only takes one Jewish grandparent for you to potentially be a carrier
3. A carrier is a healthy person
4. Not every doctor knows about all 19 so request all 19 when you go to get tested
5. A simple blood test is all it takes
6. This information is important for Jews, non-Jews, gay and lesbian couples, those in serious relationships and those who are single, those who have a healthy child(ren) but are considering expanding their family—everyone should know this information!
7. Knowledge = options
I hope you found this post interesting and informative. Please keep in mind that knowing you are a carrier for a JGD is GOOD news because it means you can prevent having a diseased child. Spread the word. Get tested, and don’t hesitate to contact me if you have questions. Robin Harpak: rzharpak@gmail.com. Thanks, Andy for allowing us to reach a few new people via your blog. Thanks to all of Andy’s followers for helping us spread the word!
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