Hard to Swallow

I have sat down to write this blog several times. I wasn't sure if I ever wanted to share what my family has gone through this last month, but while going through this all I wanted was someone to tell me they have been there. I don't know if it's the "unspoken" or if what happened to me was rare. It was a super tough week though. A week with a lot of tears and not a lot of talking at the Matis household. It was a week that has changed the way I am as a human being for the rest of my life.

I'm sharing this in hopes it may find a future mom that needs a shoulder as she's googling "high quad screen results." The quad screen is a blood draw taken between the 16th and 18th week of pregnancy. It's optional. I didn't get this screening when I was pregnant with my 1st, but I have with my 2nd and 3rd simply for preparation reasons. The quad screen looks at the following:

AFP: alpha-fetoprotein is a protein that is produced by the fetus
hCG: human chorionic gonadotropin is a hormone produced within the placenta
Estriol: estriol is an estrogen produced by both the fetus and the placenta
Inhibin-A: inhibin-A is a protein produced by the placenta and ovaries.

This screen also looks at other factors such as age and ethnicity. I'm 27 years old.

All of these were able to show my doctor that I am screening high risk for Trisomy 21, also known as Down Syndrome. My doctor, who is very busy, called me at home the day after the blood draw. I was testing 1 in 124 for an extra chromosome 21, which is considered high risk. I didn't understand. For the last 6 months, I've been telling my Mom how amazingly perfect my life has been. I thank God so many times a day for the hand of cards I have been given. I also told my Mom that I just felt there was going to be some huge challenges in my future. Like always, my Mom reassured me God wouldn't give me anything I couldn't handle.

As I walked down the steps from upstairs to my Joey, Joey and Ray, they knew something had happened. I sat down on the steps crying and told Joey all I knew. My kids became angelic. They were holding me and kissing me, like they knew I needed them. I knew I shouldn't start googling anything, but I did. I needed to start educating myself.

I was determined to find something that said if you didn't have this syndrome in your family history it is unlikely.... wrong. This happens at conception, simply an error during cell division. That's all. I think one of the first phases of digesting something like this is denial, then sadness. I know in my heart of heart I could handle anything like this. I know if anyone could, I could. I didn't feel prepared for this information though.

After a lot of tears and not a lot of talking, we went to bed. The next day I had to schedule an appointment with the Maternal Fetal Medicine doctor for a detailed ultrasound and to meet with a genetic counselor. The soonest they could get me in was the following Monday. This was 5 days away. There was definitely a lot of praying to be had during these 5 days. What I realized was how we are drawn so close to God during conflict in our lives. That Sunday I went to a new church by myself. I just needed to sit there without knowing anyone and pray, and that's what I did. It was hard to decide who to tell. I wanted for family and friends to pray for courage and health, but I didn't want to tell anyone. I don't know if this is normal, but I didn't want to hear what anyone had to say because they weren't going through it. I wanted to be at home holding my family tight while I tried to digest all of this without being exhausted by talking about what we didn't know for sure.

Monday came. Joey and I went to the hospital and prayed in the waiting room. We met with the genetic counselor who was very informative on how it happens and went over our super clear medical history throughout our entire family. Then the ultrasound... it was lengthy and the ultrasound tech seemed quiet. She wasn't able to get shots she wanted to get and halfway through she walked out of the room and gave me some grapejuice so the baby would turn so she could get more pictures of the baby's spine. After unsuccessfully getting enough pics (after a 45 minute ultrasound), the high risk doctor came in to take a better look. The the lights came on, and our hearts were pounding out of our chest. On the ultrasound she found a few things that are markers for Down Syndrome. The baby currently has a heart defect known as an Echogenic Intracardio Focus, which is a calcified deposit in the heart. This is seen in 1 in 6 babies with Down Syndrome and doubled our risk to 1 in 60. Also, the baby's limb to head ratio wasn't matching up correctly. The limbs were in the 30% while the head was in the 85%. This wasn't as concerning to me because my family and kiddos tend to have larger heads, right? The next step would be to go home or an amniocentesis. You may say you would never get an amniocentesis because there is a risk for miscarriage. I said that too, but when you have the chance to prepare our house, our family, our kids, our finances, to pick the right hospital to deliver in that has a NICU set up for a Down Syndrome baby, to find a support group with all of the right resources that can help me be the best mother I can be to all of my kids and the best wife.... you may decide to choose the amnio too. So we did it. It was scary, it was terribly painful and it was awful. I was shaking and sweating while tears ran down my face while squeezing my husband's hand. I couldn't move as a huge needle went through so many layers to find the amniotic sac. The ultrasound technician had the monitor on so we wouldn't hurt the baby and our sweet little baby cooperated very well. We completed the amnio. There beside me was the DNA of my baby. It didn't matter, but to prepare my family we needed to test it.

The preliminary results came back in 24 hours, but the full analysis would take 7 - 10 days. The prelim results are 95 % accurate and the full results are 99 1/2% accurate. The next afternoon the genetic counselor called me. The prelim results simply counted how many chromosome 21 there were. The lab only counted 2- one from me and one from Joey. If there were 3 of these chromosomes, it would definitively mean the baby would have Down Syndrome. Breathe. Breathe again. The next week was still hard. I had to keep it together, while still being nauseaus, not able to lift anything over 10 lbs for a week after the amnio and only being able to talk to a handful of family. The following Tuesday the genetic counselor called me. She said it was good news... only 46 chromosomes and no spina bifida or other neural tube defects. After smiling, crying and not being able to talk, she went on to tell me it was definitely a girl and I still needed to come back for an additional ultrasound to keep an eye on the heart. I called Joey. The weight has been lifted. We knew the quad screen tends to have false positives, but when this is happening to you it is different.

So many women will tell me "This is why I will never get the quad screen." This is fine, but don't tell me that. I have met 4 people who didn't get the quad screen and weren't even close to emotionally prepared when they had a baby with a special need or needs. They said it took months to digest everything while their other children were confused and emotionally neglected.

It is so important to actually have experienced something before offering up opinions that are hard to hear. I'm so happy and satisfied with the decisions Joey and I have made throughout this process. I feel comfort in being prepared. I feel blessed. I continue to pray for health. I understand the saying "I just want a healthy baby," when someone asks if you want a boy or girl. This is another experience that has changed me in such a good way. I have a super soft spot for mothers and babies. It's hard- so hard to be pregnant, to go through labor and to adjust your new lifestyle.

I hope this blog has found another mom out there that needed this.

"Be kind, for everyone you meet is fighting a hard battle." - Plato