Tuesday, June 19, 2012

27 weeks - SMA Carrier Test

(May 6th)
27 weeks! I have some serious catching up to do on these weekly updates so I'll be back tracking for a bit. But it's funny that when I uploaded the picture above I actually laughed out loud at how small my belly looked then (6 weeks ago) compared to what it looks/feels like now. And I'll probably be laughing again in another 6 weeks!

This week I was in the lab for some regular end of 2nd trimester screening. In addition to the regular glucose test and anemia check, I also chose to be tested for the Spinal Muscular Atrophy carrier gene. As I've spoke about a few times on here, SMA Type 1 is the genetic disease Avery was diagnosed with at 5 months old. Sweet baby girl lost her fight on April 30th, about a month after she was diagnosed. As I've learned, there are several types of SMA and unfortunately Avery had the meanest of them all. Avery continues to live on in a lot of hearts and minds, including my own, but her memory will also live on in the spreading of awareness of SMA. I must pass on the post Mike and Laura wrote after her celebration of life. Mike included the eulogy he delivered which was absolutely beautiful. Click here to read it. I was reading it at work and had to stop several times so I could wipe my tears and come back to it so I didn't look like a hot mess during working hours. My cousin Lacey who was in attendance said the whole day was one of the most powerful and moving things she's ever witnessed.

In honor of spreading Avery's message, I want to share my experience in talking with my doctor about SMA testing as well as getting the testing itself. When I went to my doctor for a regular yearly exam back in July or August-ish I mentioned to her that my husband and I would like to start trying to conceive (or not not-trying as we liked to call it.) After the appointment she sent me home with a small box of genetic testing if I wanted to do it. She explained to me that this was a voluntary test that I send in the mail after swabbing my mouth and Chad's mouth. Because it's not mandatory, she said it usually isn't covered by most insurance. After finding out from my insurance that it would be all out of pocket (between $800-$1,000 out of my pocket to be exact!), we decided not to do it. Around 4-5 months later, Chad and I were in her office for my first prenatal appointment. :) Again after the appointment and her confirmation of my pregnancy, she gave us the same little box. I told her my insurance didn't cover it and I didn't think we were going to do it. She reassured me I would be doing standard first trimester blood screening that "checks the most common things" and most people don't get the extended testing for the same reason we had decided not to.

After that first appointment, my doctor sent me with paperwork to a diagnostics lab for blood work in the "regular 1st trimester screening." I've never been great with giving blood....I'm fine with the needle and drawing of the blood as long as I don't look at it....but I always seem to get very lightheaded and come close to passing out once I'm finished. What's giving a small vile of blood? Well....turns out they actually needed a little more than one small vile...I counted 16. This probably wouldn't have been an issue, but I came straight from my doctor's office which was running about an hour behind schedule and hadn't had anything to eat in around 5 hours. I asked for a trash can to barf in around vile #10 (which I never actually used), started getting tunnel vision around #13, and according to Chad I turned 5 shades of yellow around #15. The guy drawing the blood was really nice and kept trying to talk to me but I just wanted to take "a little nap." After he was finished, him and Chad practically carried me into another room where I laid down on a cot and immediately felt better and finally got some blood pumping back to my face over the next ten minutes. It was in that moment that I panicked that I was "not going to be good at this whole pregnancy thing if this is how it's gonna start." haha. Lesson learned: Do not go hours without eating a snack. Period. But especially not if you are in your first trimester, feel nauseous most of the time anyway, and are getting an undisclosed amount of blood drawn.

Fast forward four months to hearing of Avery's condition and I'm in my 2nd trimester. Wanting to learn more about it from my doctor I asked her if that was one of the things tested during any of my screenings. Here's the condensed response I got from her: The SMA carrier gene is not something that is tested during regular screening, however it is one of the tests they run when you swab your mouth and send it in my mail. (Remember, the one that costs $800-1,000?) She says they test just about everything in that kit. She told me she's been in her practice for 15 years and when she first started out they did 1-2 different kinds of testing during the regular (ie: insurance covered) first trimester screening and now they're up to 13-16. She didn't explain exactly how a test becomes part of the regular covered screening but made it sound like once a specific condition is getting more and more publicity and people are asking for it more often...it could be put on the list as well. Armed with that info and in honor of Miss Avery, Chad and I decided to get the blood test to find out if I'm a carrier. My doctor gave me paperwork to take to the lab the following week when I went in for my glucose tolerance test. (More on my glucose test in the next post.) It's only a tiny vile of blood they send off for a quick test to find out if I'm a carrier of the gene.....what's complicated about that? Let me tell you what's complicated about that....the cost of it is outrageous. I found out the tiny little vile of blood for testing costs $1,740. $1,740. Can you believe that? Fortunately my insurance covers 90% of anything I get during prenatal appointments (until I reach the out of pocket max then it's 100% but I haven't reached it yet), so the test ended up costing us $174. I still can't really wrap my mind around the fact that they can actually get away with charging that much. But I don't need to go into health care in America....this post is long enough. Had that result came back positive, Chad would then need to be tested to see if he is also a carrier (both parents have to be carriers for the gene to be passed) and since he's on a different insurance who knows how much that would have cost.

I'm happy to report the test came back negative and I'm not a carrier of the SMA gene. For those of you wondering what we would have done had we found out both Chad and myself are carriers, the answer is simple. Absolutely nothing. It would have just given us a heads up for when the baby arrives for signs to be aware of as well as being armed with that information in subsequent pregnancies/babies.

Thinking of you today baby Avery. Lots of love and snuggles from CA.

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