Our Experience with Genetic Testing — Pink Glitter Pumpkins

Feb 8

Feb 8 Our Experience with Genetic Testing

My husband and I had a pregnancy scare when I was 18 weeks along. We felt that there was not enough information on the internet to help comfort and guide us during that difficult time. I decided to share my story. This isn't my typical crafty, fun blog post. It is a raw, emotional post about our experience. I hope you are not reading this because you are going through the same thing, but if you are, I hope that this provides you with some hope and knowledge about our story.

When you find out you're pregnant, many things go through your head. Will it be a girl or boy? Will it look like me or my spouse? What room will we convert to a nursery? What do we register for? etc. One thing I wasn't prepared for was genetic testing.

When my husband and I found out we were pregnant, I was 5 weeks along. I called my doctor, and they wanted me to come in for my first prenatal visit at 8 weeks. Unfortunately my husband would be away for 3 weeks on a work trip, so he would be borderline making it. As our luck sometimes goes, he didn't make it back in time. So I had to go to my 8 week visit alone. I had no problem going to the doctor alone, but being my first pregnancy, I was nervous. I really had no idea what to expect. The appointment itself was good. The baby looked healthy on the ultrasound from what they could tell, and it had a good heartbeat. I received the basic spill: don't drink alcohol, don't eat sushi or other raw meats, limit your fish intake, and don't change the litter box. Then I was asked the question "Do you want to do genetic testing?". My first thought was "Why would I need to do genetic testing?", then it was "But I thought that was invasive". I asked what it involved. She said just a few tubes of blood and that it is a pretty common thing women do. It wasn't anything invasive like I first thought, and instinctively what did I have to lose? I told my doctor and nurse that I wanted to just confirm with my husband what he wants to do. They explained that would be ok since they wouldn't do that blood draw until my 12 week appointment.

My husband and I talked about it. It was actually a really short conversation. We both felt we had nothing to really lose. I was 29 years old (well under the high risk age of 35), and neither of us have any family history of genetic disorders. The genetic testing is covered by insurance; it's non invasive; and it will tell us if our baby has a genetic disorder. Then we can be better prepared on taking care of a child with a genetic disorder. We can make sure we are financially prepared for a special needs child; we can make sure we know the best methods of raising a special needs child; and we can better prepare ourselves in general over the next few months rather than all of the sudden at birth. So we decided to do it!

So my 12 week appointment came, and my husband decided to go with me. He knew I was bummed he missed the first one, and this would give him the chance to meet my nurses and doctor and hear the baby's heartbeat. Thankfully, the nurse had little trouble finding the heartbeat, and we both were able to hear that sweet sound. After my visit, the nurse took me to the in-house lab technician that did my first round of blood work. If I remember correctly, she took about 4 tubes of blood. It was quick and easy. She handed me a pamphlet with basic information about what the genetic disorders the test can find. That was the extent of the explanation I received for the test. I scheduled my next appointment and went about my day.

I was given a date range that I needed to make sure I came back during to do my last round of blood work for my genetic testing. This happened to work out during my 16 week appointment. I even was able to schedule a gender ultrasound where we found out we were having a baby girl. She wouldn't stay still much, so my ultrasound pictures weren't the best. But the ultrasound technician said everything looked good. After my appointment, I was sent back to the lab technician where I had 4 more tubes of blood drawn. I was told that if everything looks good I wouldn't receive a phone call. I wasn't really given a time frame to expect a negative phone call, but honestly, we expected everything to be ok. Again, I was 29 and we have no family history. We spent the next two weeks planning a surprise Christmas gender reveal (no one in our family even knew we had the ultrasound done), and we just enjoyed the holidays with family and friends.

I can't forget the date. I even still have the voicemail. I received a call on Monday, December 28th. It was just a normal day at work. My husband took the week off since he had some extra vacation time, so he was at home planning to start work in the nursery. My coworkers and I were catching up from Christmas and discussing our work week. I get back to my office and notice I have a voicemail. It was 9:40 am. I wasn't 100% sure who it would be when I first saw the number. I listened. It was my nurse. She left a short message (10 seconds to be exact) asking for me to call her back. It really didn't click with me why she would be calling. My next appointment wasn't for 3 weeks. And would she really call to reschedule it instead of the receptionist. So I called her back around 9:45 am. She told me that my test results came back positive for Down Syndrome. *Did I just hear that correctly?* She said they would need to do another test to confirm the results. The test was called Maternit21. It was more blood work, but that this test was 99% accurate. *Wait, the test I took wasn't accurate?* My generic response was ok. She told me to come sometime that week, but since it was New Year's week, they would be closed Thursday and Friday. I said I would be there the next morning when they opened. I hung up.

To be honest, I was in a state of shock. My nurse was very nonchalant about the whole thing. I didn't have much to say or ask because I really didn't expect these results. After about 30 seconds, I called my husband. He was in extreme shock. He said "ok" and asked a few questions. I told him what I knew, and we got off the phone. After about 5 minutes, he called back. He seemed to be taking this really, really hard. I decided since it was a slow week at work, I was going to leave for the day and go be home with him. I knew there was not going to be any nursery work that day for sure. On my way home, I called and told my mom. She didn't have a lot to say like me, simply because we didn't know what any of this meant. We just didn't understand. When I got home, my husband and I hugged, then we sat. We literally sat in silence for about two hours. We came up with some questions we wanted to ask my nurse/doctor. I decided I would call her back after their lunch hour at 1 pm. We both were just on our phones researching. The TV was on in the background, but neither of us were paying any attention to it. My mom called and asked if we wanted company or lunch. Neither of us had an appetite, but the baby probably needed something. She brought lunch, we ate a few bites, then we just continued sitting and researching. One of the big things we researched and wanted answers about is that the test we thought we took wasn't really a test. Everything online made it seem as if it was a screen and just gave you a new risk assessment. We were never explained anything like that, so it was really confusing to us.

At 1 pm, I called my doctor's office. They said they would leave my nurse a message to return my call. TWO LONG HOURS later, I still had not received any returned call. So I decided to call again. I was told that the nurse had been given the message, but she was covered up in patients. She would call me when she had a chance. I wasn't happy, but what could I do. We waited another 45 minutes, then she called back. My questions were: What genetic testing did I already have done? (Serum Integrated Screening - apparently it wasn't a test as I was told before); What are my new "risks" based on this test? (1 in 79 risk of Down Syndrome); Why was mine positive? (the threshold is 1 in 200; anything below that gets a positive result); How long does it take for the results to come back from the Maternit21 test? (10-14 days) She answered our questions; now we must wait until the next morning for me to get my blood work done. My parents took my husband and I to dinner, and we had an errand to run. We were not much fun to be around. We just sat on our phones and researched as much as we could. We nibbled, but we had very little appetite. My parents being there definitely helped, but I felt awful for how unengaged my husband and I were with them.

The next day, I was at the doctor at 8:30 am when the lab technician usually arrived. I was second in line to see her. Like my nurse said, the lab tech took two tubes of blood. She could tell I was down, so we talked about various things to try and take my mind off what was truly happening. We talked about Disney, baby names, etc. Again, I was barely engaged in her attempt to take my mind off things. I did ask her a few questions in hopes she might have a few more answers than my nurse did. How long do the test results really take to get back? (1-3 weeks. First, the blood work is reviewed by a lab in California, not in house. Therefore that adds to the time. Second, if they are able to use the first tube of blood and pull enough fetal cells from it, I could have my results in around a week. However, if they have to break into the second tube of blood, it could take the two-three week time frame. *Why don't they just do both tubes at once so that it only takes a week of horrible agony for the pregnant lady and her family?*) Is there any way I can expedite it? (Unfortunately, no.) How often does this happen to women? (All the time. As a matter of fact, the lady in here before you was having the same test done. Usually the results come back normal from this test. *ALL THE TIME?!?!?*) She handed me two pieces of paper. One explained the potential costs, and the other explained the test. Up until that point, the cost really never crossed my mind. As we were told at my 12 week appointment, the genetic testing is covered by insurance. I was never really explained this wouldn't be covered. I felt this was another case of the staff not informing me of everything. Sure, they told me, but after I had already had the blood work taken. Would knowing I may have to pay out of pocket change my mind on doing this test? No. But it was still another frustrating point in my journey.

Now we wait. I tried to handle the situation the best that I could. I knew that there was literally nothing I could physically do to change the results or get the results any quicker. All I could do was pray and give it to God to handle. So that is what I did. Did I worry? Yes, what mother wouldn't worry. So many things went through my head. Every time I would watch anything on TV or see a family in public, it would cross my mind that that may never be my family. My child may never have those same experiences. I understand that my child would have their own unique experiences, but when you find out news like this, it is literally like you have lost a child. You are grieving the loss of what you thought your child would be. I am in no way comparing my pain with that of a person who has actually lost a child. But if these next results come back positive, the child and experiences I expected to have no longer will be. We will have a whole new lifestyle we will have to figure out. Then of course there are the selfish thoughts that go through your head. No matter how much you don't want to think such selfish things as a parent, it does sometimes happen. Especially when you are just trying to process everything and prepare yourself for the worst. I knew the child's dependency on my husband and I would greatly increase and would last much longer. I knew my child wouldn't live as long as a child should. And lastly, I would probably outlive my child. Those are very morbid things, but in this situation, so much goes through your mind.

But what kept me going the most was knowing that I had to be strong for my husband and child. My husband was taking this very hard. Life changes are difficult for him in general. My husband is very supportive of me. If I am ever upset or struggling with something, he is always there for me. So if I would have broken down, cried, begged for his support, he would have been there. In no way am I doubting this. However, I knew he needed me more than I needed him during this time. He needed me to be strong so that he could be the vulnerable one. As the husband, he does not get to experience pregnancy the way I do. The bond I already have with our child is far greater simply because I can feel her movement already. It is my body going through all the changes. I know he will bond with her the moment he sees her for the first time, but he doesn't get the bonding right now like I do. So with that said, I knew I had to be as supportive as I could for him. I did not want to break down in front of him. I wanted to be positive about everything and keep reinforcing to him that this is all in God's hands. I researched and researched. I found as many positive articles that I could online. Every time I found one, I would provide it to him. I wanted to show him that the odds were in our favor. Unfortunately, there is not much out there. At the end of this, I have listed the websites/articles we found most useful during this time. That way you or anyone you know going through this can find some hope or comfort through them.

We spent the next week trying to focus on everything but the situation we were in. We watched football; we had friends over; we visited friends; we worked in the nursery; etc. It was the longest week ever. You could truly tell that my husband and I were mentally exhausted from our sleep patterns. Normally, we are awake by 8 am on the weekends. Over all the New Year's holiday and weekend, we were lucky to be up by 10 am. We struggled to really eat much. We socialized as much as we could, but we were still in our researching mode. We didn't tell many people what we were going through at the time. We kept it to our immediate family and two friends. I didn't want to worry more people than necessary. I also didn't want a lot of sympathy at that time. I just wanted support. I wanted people that would listen, not necessarily tell us how to handle the situation.

It was Tuesday, January 5th. Exactly one week and some hours since I had given blood for my Maternit21 test. I had been in a meeting at work until around 4:15 pm. I get back to my office and notice a missed call and voicemail from my doctor's office at 4:10 pm. It was someone whose name I was not familiar with asking me to return their call. I immediately did. All I got was their answering service. Apparently the office closed at 4. I was beyond frustrated at this moment. She called me after 4. How can she expect me to call her back if they are closed and won't answer their phone? So now I am worried and wondering who this person was that called. My first thought was it was someone in insurance. I switched insurances January 1st, so maybe they were having issues. Just to be sure, I asked my best friend who sees the same doctor what the name of our second nurse is. We rarely see her, so I am unfamiliar with her name. It turns out, it was my nurse calling. Now I am wondering if she has the results or not. I have read where sometimes the samples get messed up and you have to give blood again. But now I have to wait until 8 the next morning before I will know. The next 16 hours were miserable. I told my husband about the voicemail as soon as I could. He didn't have much to say. We kept it close hold because we didn't want to give any hope to our family we might know the results the next day. The appetite I once had was completely gone. I got home from work and spent the night working in the nursery. I completely skipped dinner and just stayed focus hoping to pass the time. My husband could tell I was really struggling that night. He was there if I needed him, but I needed this time to myself. Before bed I was fairly nauseated, so I had a few bites of food just to calm my stomach down and went to bed. I tossed and turned and really struggled sleeping.

I got to work on Wednesday fairly early. I first called the doctor at 8 am. I got the answering service. I waited until 8:20 am. It rang, and rang, and rang, and rang. About 5 minutes later the receptionist answers. The nurse who called me the day prior was out of the office. The receptionist asked if I knew why she called. Of course I didn't KNOW why, but I had an idea. I told her what I did know, and she said she would let my other nurse know. At 8:35 am, my nurse calls me back. She has the test results. I am literally at the point of wanting to puke. While I really want to know the results, all I can think about is how my life could be dramatically changing at her next words. But here goes. She said everything was normal. NORMAL. Hallelujah! I was nearly in tears at this news from happiness. She also says she knows the gender if we wanted to know for sure. It is 100% a girl! Ah, I can breath again!

I called my husband immediately. He was ecstatic. My mom was too. My mom and I were heading to Disney a few days later, and it was such a relief to have this news prior to going. We spread the word. SHE IS HEALTHY AND EVERYTHING IS NORMAL.

So what have I learned? If I had to go back and do it again, I would not have done the genetic testing at week 12. I didn't fully understand what the results could be. I spent a week going through what felt like hell waiting on the results from another super expensive test. These tests may be great for women who are high risk, but women who are not high risk need to know what they are truly getting in to. The SIS test I took originally has a HIGH false positive rate. Extremely high. Even the second test I took has a chance of a false positive. The stress and fear you may experience for 1-3 weeks just isn't worth it from something that will not give you a yes or no result. In my future pregnancies, I do not intend to do this testing. I will wait for the ultrasounds, and if the doctor sees something then, I will deal with it and do the testing at that point. The high false positives were never explained to us. We were not prepared for what we were forced to go through. We were lucky. Our results came back in a week. I have read where some women have to wait 3 weeks. I have read where some of those women are then told the results are inconclusive and they have to do more blood work. I am not denying that these tests aren't great for the people they are designed for. If you are over 35 or if you have a history of genetic disorders, by all means do this. It may be more helpful to you than me. But the stress and worry I had to go through was not worth it. I am beyond happy and blessed at the results of our final test, but think of the week of stress I could get back had I just said no.

Serum Integrated Screening Websites