Before we started trying to have a kid (I love that euphemism), we read/were told that we should have some genetic testing done to limit the likelihood that our children would have a number of genetic diseases. We were easily convinced that it was the right thing to do, so we began the somewhat frustrating process of getting our chromosomes tested.
The first step was to find a doctor who could do the test. Anat and I decided that since she’s a wimp we thought my insurance was better, that I would get tested. If you all remember Mendel’s laws, in these cases, it takes both parents being carriers to even have a chance of a child having a certain disease. In theory, if I was negative for all of the diseases, Anat would avoid a needle.
So I began to call around to various doctor’s offices and ask if they could do the testing. Surprisingly, most had no idea what I was talking about. Some had vaguely heard about it, while others informed me that they could only draw the blood and send it to a lab (I figured this all along). After calling almost a dozen doctors I was frustrated. It wasn’t until we were hiking with a friend’s brother that had gone through the process, that we were finally tipped off that Cedar’s Sinai Medical Center actually had a genetic testing facility.
Anat called up the testing center, got the details and faxed me a list of 3 dozen tests, subtests, codes, and prices. That’s when the sticker shock set in. If I remember correctly, if our respective insurances didn’t cover these tests then we’d be on the hook for about 3 grand — that’s assuming I was negative and that Anat didn’t need to get tested for any. I know you can never put a price on good health but the price wasn’t exactly insignificant. Regardless, we decided that we’d pay for the tests regardless what our insurance covered.
Part of the reason for the high price was because it was recommended that we’d be tested for 11 separate diseases. These 11 tests are collectively referred to as the Ashkenazi Panel, a group of tests that screen for the presence of genetic mutations commonly carried by Eastern European Jews. These diseases include Tay-Sachs, Canavan Disease, and Maple Syrup Urine Disease, an illness as deadly as it is hilariously named. And if you’re wondering, Ashkenzi Jews are more likely to get these because we’re all inbred. But I digress….
Next came the worst part of the process … dealing with the insurance company. Without dwelling on an already belabored experience, I ended up calling Blue Cross multiple times, to figure out whether or not I was covered, to what extent they might reimburse, and what I had to do to make sure I could get the maximum reimbursement possible. I probably spent a few hours total on the phone with theses clowns until I finally found a very nice and competent manager that walked me through the process. In doing so, she had to contradict what many of the previous people I had spoke with had said. Eventually she told me that once I hit my annual co-pay, I’d only be responsible for 15% of the remaining bill. Compared to $3,000, I was certainly pleased with that amount. Still, despite her assurances, she had to, according to company policy, remind me that deceleration of benefits meant nothing until the bill was submitted.
Meanwhile, on Anat’s end, we read that each test would cost $20, not bad. But then when we investigated further someone told us that each test had multiple subtests/procedures (eg., drop blood on slide, put slide in microscope, etc), and it would be $20 per procedure. So we were looking at $20 * 75. Which would be more than what I would pay if Blue Cross covered all but 15%. We were confused and couldn’t get a straight answer. Being risk averse we reasoned that my insurance was a safer bet and we scheduled our appointment with the genetic counselor.
We showed up at the office and were impressed how nice everyone was. People smiled a lot and it seemed like everywhere we looked, happy couples sat in different corners of the office eager to get on with gettin’ it on. After a lot of frustration we felt we were finally getting to the good parts of this process. All of a sudden this all felt a bit more real and exciting. We met with our counselor who went over our histories. We told her where we were from, where our parents and grandparents were from, and discussed our medical histories. She recommended the Ashkenzi Panel and went over all the required information we needed. She also discussed with us the possibilities that we both might be positive for the same tests. Later I went to the nurse’s station, gave blood, and we went home to wait.
I think we waited about a week before we heard. As you can imagine, we weren’t the most patient people, but the time seemed to go by at a fast enough pace. Then the genetic counselor called me to tell me the news:
Her: Hi, I have your results.
Me: Great, what are they?
Her: Well… you’re not a carrier for 9 diseases.
Me: (Quickly doing the math on my fingers) Uh huh.
Her: But you are a carrier for 2 diseases.
Me: Bummer.
Her: They are Familial Dysautonomia and Maple Syrup Urine Disease.
Me: (Laughing at the hilarity of the name).
In our first meeting she had prepared us that there was a likelihood that we’d be carriers for at least one disease. We realized that since we both had to be carriers, that we wouldn’t get worried about the results of my tests. Instead Anat made an appointment and went in to get tested for the two diseases I tested positive for. By the way, you’ll be proud to know that she didn’t pass/freak out when she gave blood.
While waiting for the test results, we talked about the possibilities. If she were to test positive for either one, there would be a 25% chance that any child we conceived naturally would have a pretty severe illness. The options would then be, try our luck, adopt, or use some sort of in vetro method. We weren’t opposed to any of the options but at the risk of putting the cart before the horse, we waited to get the results before thinking of the next steps.
Turns out this story has a happy ending. Anat’s tests came back negative. As for me being a carrier of such a sweetly named disease? Well, first of all….. don’t marry your cousins. For that matter, while all you Jewish Mama’s reading this might disagree, this is nature’s little way of telling you that Shicksa’s aren’t that bad of an idea: hello genetic diversity? Second, there’s now a 25% chance that our brood will also be carriers but a 0% chance that they’ll have MSUD or the boring one.
So why did I go on and on about the insurance companies earlier? Well, turns out that they’re all idiots. My insurance did cover the tests. In fact I only had to pay 50% of what I thought I’d have to pay. Am I happy about that, sure? Have you seen what Bugaboos cost? As for Anat, it cost her $40 for the two tests. Looks like financially speaking we should have just gone with her plan originally but with all of the disinformation we received it was hard to make that choice … besides, if I hadn’t gotten tested, we wouldn’t be aware of the MSUD. Who wants pancakes?
Posted by akofner 
Posted by akofner 
Posted by akofner 
