I was provided a free genetic screening kit from JScreen in return for sharing my experiences. All thoughts and opinions are my own.
I’ll be honest with you. When Chase and I were pregnant (and just before) with Red, we had no thoughts of genetic testing, no worries about genetic mutations, birth risks or anything else. We were young, carefree, and far less worried than our current counterparts. I knew that our immediate and extended family had presented no birth defects or disabilities, but I couldn’t have told you if we were carriers for any diseases, or at risk or worse. Sheer, blissful ignorance. Now that our family is pregnant with #2, it’s a little different ballgame. I’m still considered “young” maternally; not at risk for many things older mothers face, but that doesn’t mean I don’t think about them.
When I went to the Type-A Conference last fall, I learned a LOT about how to advance my career, tricks and tips to engage my audience and most interesting of all, about genetic screening. The JScreen company, working with the elite Emory University here in Atlanta, had begun screening families of Jewish descent for 19+ genetic markers. The non profit company then increased their reach to 80 different diseases for all individuals. JScreen recommends that a person or a couple takes the saliva-based assay (spit test) before you become pregnant to fully understand your risks and options. Often covered by insurance, the cost of the screening doesn’t exceed $99 and is far less expensive than other genetic testing.
Unknown to everyone else around me, Chase and I were planning to try for another baby in the early winter. This was a great opportunity for us to learn about our genetic makeup and what we were carriers for. This info was perfect to share with our siblings, too…. after all, if I’m a carrier for something, there is a great chance my brother is a carrier, too! I signed up for a spit kit right away.
The small, discreet box arrived in the mail only 2 days after my request, and I was almost overwhelmed. There were extremely clear, pictorial and written directions, but with my scientific family background, I wanted to make sure I did everything correctly and didn’t have any contamination. The first thing the test asks for is a spit sample, not having eaten or consumed anything for 30 minutes before the test. Well, baby brain over here (who had just found out she was pregnant) couldn’t remember to spit into the vial until AFTER she ate or drank something. In fact, the JScreen rep even called me that week to ask if I had mailed the kit back…. oops….. I totally did it that afternoon.
It takes a lot more spit than you realize to get a full sample, because bubbles need not apply! Sending the prepaid labeled bag back was the easy part… waiting 10-30 days to get my results back was difficult! It’s like waiting for your test score back… it makes you nervous and excited all at once.
I came back as a carrier for two mutations, both hearing related. Being that I have a great interest in science and genetics (it’s more of a religion to me than any dusty old book or prophecy), I loved hearing what those genetic markers meant and how they affected a person’s health. In fact, I wanted to be so in-the-know that I ordered (and paid for) a kit for my husband, too. His results came back super-hero like: nary a genetic mutation marker to be found.
If you are thinking about starting or growing your family (or you even want to know what you may have passed down to your kids), I would definitely recommend trying out JScreen. It’s easy, discreet, personal and best of all, affordable. Even Parents magazine is touting the importance of genetic screening (I found this article after I had taken the test… it wasn’t provided to be by the company). I feel better about not needing to elect testing options from my OB’s office and having chosen JScreen to see my genetic markers. Knowing my risks and being able to plan affords me an incredible peace of mind, and for this busy working mama, that’s priceless.
What a neat thing to do! We are done having babies, but I would use this genetic screening to tell my kids (later in life) what we may have passed to them.
This is really great. I’m a carrier for a few things too (very abnormal things) but I’m glad I was able to share the information with my sister so she could learn them before she had children.
Looks like you guys had a great Christmas! I love those matching jammies!
That’s a beautiful family photo! (I didn’t mail out Christmas cards … though I did have the cards … and the photos. I fail.)
Such an interesting idea for sure. I would be nervous to have the test done for sure!
I was really nervous to get it back, but learning about what I carried was kind of cool – they were on the manageable side of things. I was jealous of Chase… a clean panel!
yes! I told my brother what I was a carried for so he would know, too!
Agreed. More information is never a bad thing, and now I can share with my kids!
Thank you! It was the first year we did it, and it was SO much fun to have them on all day!
I ordered a JScreen test for a friend’s engagement present and she was so grateful. Makes a great gift!
Oh, that is a FABULOUS idea! I’ll be sharing that one later on!
Good afternoon,
we have come across somewhat of an unusual situation and I’m hoping to get some advice and also make other aware. We recently had a baby girl, which we are very excited about. However, several days ago, our OBGYN informed us that the company he used to do my wife’s carrier screening (Progenity, Inc.) using the Global+ Panel was missing seven conditions at the time of us going through the testing. Which means we received false negative results. This explains so much! Our baby girl was born a carrier of alpha thalassemia, which we now know my wife is also a carrier. However, when we got testing through Progenity, the test result came back negative! Today we know that the reasons for that is because their test is wrong and has been wrong for over a year! Please don’t order testing through this company!
John
I’m so sorry you had a bad experience with a testing company – I’m happy to say that Jscreen isn’t Progenity at all – they are independent. I’m sure that most tests come with a % correct result, yes?