Heritage Florida Jewish News - Central Florida's Independent Jewish Voice

Hope for couples who are carriers of a genetic disease


Although many couples have often wondered what the results would mean for their future family if they discover the devastating reality that they are carriers for severe genetic diseases, new pathways now can lead these couples to start healthy families. Expanded genetic screening, best done before pregnancy, can test for hundreds of disease genes. Most couples get reassuring results. But for those who don’t, there are now life changing options to start the healthy family desired by millions. New options supported by JScreen and the Jewish Fertility Foundation have given new, life changing options for these couples.

For those who are at risk, state of the art reproductive technologies give them the opportunity to maximize their chances for healthy children. Through in vitro fertilization with pre-implantation genetic diagnosis, use of donor eggs or sperm, or other options, couples can take control of their genetic future and the health of their families.

Understanding the risks associated with different genetic diseases before a pregnancy can save families from heartbreak. For example, after a much-publicized battle with a rare genetic disease called dyskeratosis congentia, Seth Galena and Hindy Poupko lost their 2-year-old daughter, Ayelet, in 2012. They worked with the National Institute of Health to identify the specific genetic mutation causing the disease and were able to move forward with testing embryos (PGD) prior to implantation (IVF) to safely have two more beautiful kids, Akiva (3) and Talia (1).

“The sooner you know, the sooner you can create a way forward,” said Seth. “Matching for a disease doesn’t mean you should not get married or not have kids. Those days are over; it just means your pathway to getting there will be different. IVF/PGD are advancing every day and are becoming commonplace. But it all starts with knowing upfront.”

JScreen makes testing genetic diseases simple—providing an easy-to-use at-home saliva test that gives couples planning for children an unprecedented understanding of their own genetic makeup and risks relating to their children’s health. If a person or couple’s risk is elevated, genetic counselors from Emory University School of Medicine will privately address their results, options and resources to help you have a healthy pregnancy and healthy baby. 

Now, working with this information, the Jewish Fertility Foundation uses cutting edge scientific data to implant a healthy embryo in the mom, giving the couple the best possible chance to have a healthy baby despite their genetic predisposition for a devastating genetic disease.

For more information, please visit JScreen’s website at www.jscreen.org or the Jewish Fertility Foundation at www.jewishfertilityfoundaiton.org.


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