Monday, June 29, 2015

The results

After our decision to do the blood test for a diagnosis we had what felt to be a long wait for test results to come in! We were quite busy that week so that helped to pass the time.

On the 16th I kept my phone with me all the time (even during my attempt at a nap) but later in the day left it in my room with the volume down and missed the call! I didn't even realize it until it was too late to call back. Dr Jolly had left a message saying that the results were in.

On the 17th I called them back and they said that Dr Jolly wasn't in yet so I let them know that I was going to be available all that day to talk. She called me back a little later that morning and said that the cell-free DNA test (Harmony/Panorama are some of the test names) had come back positive for Trisomy 18. She reminded me that it isn't always accurate but combined with the ultrasound it seems pretty conclusive.

Now, before I say the rest of the announcement, I have to say that we were 95% sure that we were having a girl. I as well as Jon, the midwife, my mom and seemingly everyone else thought it was a girl :)

After letting me know the first part she asked if I wanted to know the gender, to which I said yes. She said "it's a boy!". I was shocked! I said "a boy?" and she confirmed! Now, it isn't that I don't want a boy, (I really do) but I was so sure! After my initial shock we ended the phone call and I called Jon to let him know the news, he was super excited that it was a boy! Throughout the day we called all of our parents to let them know. We also decided that we were going to give him the first name of Matthew which means "Gift of Yahweh" and passed that news on too. We haven't decided on a middle name yet.

Our next meeting was scheduled for the 22nd when we were going to meet with another high risk OB and also meet a genetic counselor.

Tuesday, June 23, 2015

Our first specialist appointment

On the Tuesday following our big news (6/9/15) we were scheduled to have another ultrasound done with higher technology equipment and to meet with a fetal abnormality specialist (and she is a high risk OB). Boy did that weekend ever seem long! As I went through each day with ups and downs in emotion and processing my grief (very normal for this situation) God continued to care for us and remind me of the truth when I was forgetting.

My mom offered to drive us there since we might be distracted and her car had A/C (it was a hot day) which we decided to take her up on. We left our house at about 6:45am and arrived in plenty of time for our 8:00am appointment.

We were first taken in to the ultrasound room and we had a very nice tech who answered our questions as much as she could (liability and all that) and explained what we were seeing as we went. We had decided that though we hadn't wanted to know the gender previously it would help us through this time if we could know and name the baby so we could start to bond better. This tech couldn't tell though because our little one really likes to have it's legs crossed!

After the ultrasound we were put in a little room where we got to talk to a nurse who recommended getting insurance (we are with Samaritan ministries so we said we were self pay) and asked if we had any questions she could answer and gave us ideas of things to ask the doctor.

Dr Jolly arrived super early and was able to take care of us right away (instead of waiting until the 10:30 appointment she arrived at 9:30). She had us go back to the ultrasound room so that she could take a look herself and get a really good idea (even better than just pictures) of what she was seeing. She explained the name of each marker we saw and told us what she was looking at or for.

Once she had seen what she needed to see we went back to the room so that we could talk about it. She explained in detail what each of the things were that we saw. The biggest new information we got was that the heart appears to have an A/V canal (as well as an ASD and a VSD which go with that often) as well as the possibility of the greater vessels which go from the heart (to the lungs or into the body) being connected to the wrong sides of the heart. She also said that she was unable to tell the gender due to things being either underdeveloped or something being a little big. She said that we could do a blood test on me that would most likely be able to tell us if the baby had Trisomy 18 or 13 and would be able to tell the gender or we could do an amniocentesis. She told us that the blood test wasn't always accurate but that if it did test positive for T-18 we could be pretty sure that that was what it was and that an amniocentesis would be 100% accurate.

We didn't want to do the amniocentesis due to the risks involved so we chose to go with the blood test. We were told that the tests could come in either on the 16th or 17th. Talk about a long wait!

At that time she also began to answer our questions about future possibilities and what a T-18 diagnosis could mean for us (risk of still birth, infant death during birth and after birth, hospital birth, etc.). We also asked about what the warning signs were for miscarriage or fetal demise. She told us to continue with our care with the midwife at this time so that we have someone local who can check in on our pregnancy and can be our person to call with questions and so on and that we would meet with them for the high risk care.

We were quite happy with our experience with her and really liked her a lot. We scheduled to meet another high risk OB on the 22nd along with a genetic counselor and we also were going to have the option of doing the amniocentesis if the blood test came back negative.

Our next appointment with the midwife was scheduled for the 17th.

Friday, June 19, 2015

The beginning of his story - Part 2

(Part 1 is here)

Along the way to the midwife's I was able to gain some control of my emotions so that I was able to go through most of the appointment without crying.

As we sat there she went through the findings of the ultra sound radiologist. She said that our little one had possible heart defects, large bilateral choroid plexus cysts (two large cysts in the brain), a club food (the left foot's sole is facing the other foot), micrognathia (small chin), and ventriculomegaly (dilated ventricles in the brain). They also found that the baby was smaller than it should be, being approximately 9 ounces instead of 12-14 ounces. The recommended due date for that ultra sound was November 2nd, the previous ultra sound had said October 26th and my original dating (which I believe to be the closest to accurate) was October 18th. She said that most of these signs (if not all) indicate a possibility of Trisomy 18 (Edward Syndrome). I believe that she explained that with Trisomy 18 there is a high risk of still birth and infant death though there are a few that make it past that.

I am familiar with Trisomy 21 (Down Syndrome) because of a biological and an adopted sister with it. I figured that it would be similar and wasn't as afraid.

We showed her the ultrasound pictures and she asked how we were doing. I tried not to cry as I told her about my anxiety around the ultrasound and how I was feeling. She asked if we wanted to hear the heartbeat and we did. The heartbeat was nice and strong and easy to find.

She told us that she was going to refer us to a place that specializes in fetal abnormalities and that they would probably call us to schedule an appointment. She is a Christian as well and encouraged us to put our trust in God and to rest in the knowledge that He has a plan.

As we left she told me that it was okay to cry and that crying was good and she hugged me goodby.

We drove home trying to absorb the news. Over the evening we began calling our family members and closest friends to let them know what was going on so that they could pray for us. I cried through most of the calls but each one got a little easier. I eventually sat down to my piano to play. My hymn book was open so I began playing most of the ones I have marked and they were ones about God's peace, trusting in Him and casting our cares on Him. As I played them I began to cry a mixture of my pain and the joy that the Lord is here and has a plan and will give us His peace. I began to feel peace, and began to feel okay, that God is in control and that this will turn out for our good and His glory.

Jon and I spent some time talking before going to bed for the night. We had both begun to feel peace and were not quite so afraid as we had been before.

I had a little trouble getting to sleep that night but once I did I slept well, which I am really grateful for.

Thus ends the first day that we knew.

Thursday, June 18, 2015

The beginning of his story - Part 1

We conceived little Matthew just 3 weeks after getting married. We had hoped that that would happen and were ecstatic! The positive pregnancy test came on the Tuesday before Valentines day and we were going to have a party that Saturday with my oldest brother and his wife (who pretty much planned it all), my parents and Jon's parents. We used that party to make the big announcement and got very excited responses!

We began planning, found a midwife and a doula, got books and I started reading. I have attended 3 of my siblings' births but it had been a while and this was the first time for me!  We were planning to have a homebirth with Jon, my mom, the midwife and the doula present.

We began meeting with the midwife each month to check in and hear the heartbeat. I was a little anxious each time about hearing the heartbeat but it was there each time, though a little hard to find sometimes!

We also met with the doula (who attends our church) and were super happy with what we learned and were excited that she was available.

We had decided not to find out the gender but were super excited to see the 20 week ultrasound so that we could see our baby again (we had had a 10 week ultrasound at a pregnancy center). I was uneasy going in to the appointment and was still uneasy as we came away even though the only odd thing I noticed was that the chin was a little short. I was hoping to hear from the midwife soon that everything was fine so that I could put away the uneasy feeling.

Later that night at about 6:00 our midwife called and said that the ultrasound had found a lot of abnormalities and that she thought that we should meet to talk about them. We scheduled to meet an hour later.

I began crying even as we ended the phone call and called Jon to me. I told him through my sobs what the midwife had said. At the time we were at my brother's house and he was nearby so he found out that something was wrong. My dad and one other brother were downstairs so Jon had me sit down while he went and explained what was going on to them. We then called the rest of our parents with the news and went home for the short wait until the appointment.

I continued to cry and went to our room to lay down while Jon got me a wet cloth for my head. My bible was laying on my bed and I pulled it open. The first thing it came to was Lamentations but I didn't think I would find anything helpful in there and I was looking for Psalms. The next page it plopped to had Psalm 139:11-18
"If I say, “Surely the darkness will overwhelm me,
And the light around me will be night,”
12 Even the darkness is not dark to You,
And the night is as bright as the day.
Darkness and light are alike to You.
13 For You formed my inward parts;
You wove me in my mother’s womb.
14 I will give thanks to You, for I am fearfully and wonderfully made;
Wonderful are Your works,
And my soul knows it very well.
15 My frame was not hidden from You,
When I was made in secret,
And skillfully wrought in the depths of the earth;
16 Your eyes have seen my unformed substance;
And in Your book were all written
The days that were ordained for me,
When as yet there was not one of them.
17 How precious also are Your thoughts to me, O God!
How vast is the sum of them!
18 If I should count them, they would outnumber the sand.
When I awake, I am still with You."

Verses 13-16 were extremely potent to me right away and reminded me that this is God's work, he is the one weaving our baby together just as He wants it and He has a plan for how many days this baby has. As I continued to reread I noticed the verses above and below it and found them to be very personal to me that even the darkest paths we face are light to Him and that He is thinking about me.

After a short while we went to meet the midwife

(Here is part 2)