As soon as Mr. Confetti and I became engaged, we began joking about the genes we hoped our future children would and wouldn’t inherit from each of us.  Mr. Confetti knew how to flatter me, by saying he hoped they got my eyes and my smile… cheesy I know.  I hoped they would have my musical ability (which he lacks) and Mr. Confetti’s athletic ability (since I have none whatsoever).  My vision – no thank you.  His memory – absolutely.  And our poor children, our friends would tease us, would be destined to have an intense mane of curly hair; Mr. Confetti and I both were blessed with the “Jew Fro” – full heads of thick, tough to manage curls.

Genes determine everything from hair and eye color to the shape of your toes (and hopefully our children would have mine – sorry Mr. Confetti, but your toes are weird).   But also, genes can predestine an individual to have all sorts of health challenges, from the extra chromosome that causes Down’s Syndrome to the BRCA gene that predicts higher probability of having breast cancer.

All of these things can be worrisome, but in my case, my concerns about genetics were specific.  I had heard from Grandma Confetti about the importance of being screened for Jewish genetic disorders, like Tay-Sachs, cystic fibrosis and many less commonly known conditions.


Because the Jewish community is a fairly small population that over the course of centuries married within their faith community, there are a handful of disorders (well, more like 3.5 hands full – there are 18 that can be tested for) that have a uniquely high rate of occurrence in Jews of Eastern European descent.  While Tay-Sachs is the famous one within the Jewish population, there are other genetic disorders that have high rates in other ethnic communities, including sickle cell anemia in the African American community and thalassemia in Chinese, Indian and Southeast Asian communities.

My memories of high school biology were fairly fuzzy, so when this topic came up over dinner table discussion in the months before we began TTC, I began to worry.  What does all of this mean? If I was a carrier of a disease, what would happen if Mr. Confetti was too?  Would we be unable to have healthy children?  Was there anything we could do?  Thankfully, a bit of internet research (which for me can be a dangerous gateway drug for all sorts of worry) gave me the answers I needed to soothe my growing fears and answer all of these questions and more.

This picture from the Jewish Genetic Disease Consortium explained it clearly for me.  If two parents are both carriers of a genetic disorder like Tay-Sachs, there is a 1 in 4 chance that the child could be affected by the disease, and a 2 in four chance that they could be a carrier, and a 1 in 4 chance that the child would be completely unaffected.  This was already reassuring, because if one of us was a carrier and not the other, there would be 0% chance that our child would suffer from one of these disorders.  Even if we both carried the gene for one of these disorders, there was still a 75% chance that everything would be okay (I tried to take the glass half-full outlook).

Where my fear set in was determining what we would do if we found out we were both carriers.  As I learned more about each condition that I planned to be carrier-screened for, I understood that not every Jewish genetic disorder is an immediate death sentence.  While some diseases, like Tay-Sachs, project extremely short life-expectancies for children (typically less than 5 years, fraught with suffering and pain), others, like cystic fibrosis and familiar dysautonomia, pose great challenges but have much longer life expectancies and are becoming more and more treatable as research evolves.

Traditionally when couples are ready to begin trying to conceive, the woman is tested first to see if she is a carrier for whatever disorders she is being screened for.  If her results are negative, she can go ahead and try to conceive without worrying about it anymore.  If she is a carrier for any of the disorders, her partner would then be screened for those specific disorders.  If a couple is already pregnant, and one or both partners are part of a minority group that has ethnically prevalent genetic disorders, experts recommend that both partners are tested.

If it is found that both partners are carriers for a genetic disorder, this knowledge is power.  So much has changed since Grandma Confetti was on her TTC journey.  With the advancements made in reproductive technology, genetic diseases can be prevented using preimplantation genetic diagnosis in conjunction with in-vitro fertilization.  This ensures that those 25% of affected embryos are not the ones implanted through IVF, thus ensuring that a baby is not born with a terminal illness like Tay-Sachs.

Not everyone is comfortable morally with preimplantation genetic diagnosis, and financially, this can be a limited option as well, depending on what insurance is willing to cover.  Another option is electing to use an egg or sperm donor that does not carry the genetic material for the disorder, thus preventing the inheritance of the carrier trait from both partners.  I knew this was something neither I nor Mr. Confetti would be comfortable with.   Others opt to try to conceive as they normally would, but with the mental preparation to know what could be coming and the advance knowledge to prepare for early treatment should the worst case scenario arise.

Mr. Confetti and I were surprised at how easy the testing process itself was.  Originally, my plan was to participate in the subsidized screening program offered by the Center for Jewish Genetics, based in Chicago.  Paying for these tests out of pocket can cost thousands of dollars, and the Center offered a combined education and screening program for less than $200.  Part of their initial screening process for eligibility was for me to contact my health insurance to see if the screening was covered under my insurance.  At the time, I had a mediocre HMO plan, so I was shocked to find out that my screening was 100% covered.

Armed with a list of disorders to be screened for that the Center provided, I visited my Primary Care Physician, who ordered a simple blood draw.  Simple as that.  The doctor informed me that if I screened negative as a carrier for all of the disorders, I would receive a phone call, and if I was a carrier, I would need make a follow-up appointment with a genetic counselor to review the results.

Several days after my blood draw, I got the phone call.  I had a clear panel and was not a carrier for any of the Jewish genetic disorders.  Mr. Confetti was pleased, because not only did this assuage our fears, but he did not have to plan an extra doctor’s visit to get his blood drawn.

The process of TTC can bring up all sorts of concerns, and I was happy that this first step in our journey was able to alleviate one big one of mine.  Certainly this was not a guarantee of good health of our future offspring, but at least we could sleep soundly with one worry off of our plates.

Are there specific health concerns you worried about when you started trying to conceive?