Noonan Syndrome Waiting

The doctor told us at the last visit there would no reason we would not hear back from the noonans test by this point. So I called and was told they were checking into it because we should have heard something at this point. While waiting on this call back I was a nervous wreck. 

This seemed to be the last big chromosome issue that could pop up. I had to keep myself busy.  I was caught up on work, the house was clean....what else could I get into? Nothing, lol nothing but waiting.

And FINALLY we got the call. Oh how I wish telling this story were simple. From the start we were told if we heard the doctors voice when we got the call back thats when we need to worry. Well this time I called to check in on our results and the nurse who worked with the lab said that there was some special information on the lab reports and that it was given to someone else to look over. 

I immediately thought oh my god....this is it. This is what our baby has. EVERYTHING else may have taken some time to get but it was always cut and dry answers. Yes things look good, you are good to go. This.....this call didn’t feel like that at all. My mind went into the worse place it had been since this entire ordeal. 

I literally felt sick while I waited for her to find out why there were special notes. 

Finally she called back. She wasn’t sure why it was noted the way it was but EVERYTHING looked fine. Good god. Were they trying to cause me a heart attack.

I was relieved to call my husband and family back after being hysterical to all of them while I waited to tell them that all looked clear for Presley. 

This up and down roller coaster is not one any parent can possibly get used to.

Second Visit to High Risk Doctors

The day after my birthday, so of course this birthday was spent pretending to be excited when really I was just anxious for the next day. By this point several of our family members and close friends knew what was going on and were praying hard for this to be our last visit and end with wonderful news that all was perfect with her (still no name). I couldn’t wait to see her but was ready for them to count all fingers, all toes, see that both legs were growing, and both arms were growing. This sonogram was to determine if she did or did not have any physical birth defects. 

As we waited in the waiting room, it was a struggle. No one is there for a good reason. Several moms are crying. That is not easy. For this sonogram we took mayson with us with my mother so that he could see his baby. 

He professed that she “talked to him!” when her heart was beating. He loves her so much already. Shortly after hearing her heart my mom took him out as we had planed because I did not want him or her in the room with Ryan and I if they did find something to be wrong.

It was a very long sonogram. But it went well. We were so happy to hear of this. The doctor came in and explained that he is a very cautious doctor and would prefer to see us a little later in our pregnancy when her organs were larger to check and make sure those were progressing normally.

I was upset when hearing this because I wanted to be done. I told him that I really did like him and how he treated us as his patients but I was really ready to not have to see him anymore. 

He laughed, and understood. He explained this entire situation like running a hurdled marathon. We have crossed these hurdles and it is time to cross a few more to be safe.

Now we continue to wait on the noonans. He said that it was rare to have these good results and to have that come back positive but he has seen crazier things. For example a mother getting all good news back and on his last “lets be safe check up” he found issues with the baby.

I appreciated his honesty. When you are at an appointment like this and having waited through so many weeks, it is harsh but nice to know all of the odds.

Christmas Eve couldn't have gone better!

Best Christmas EVE EVER......Negative on all Chromosome Issues 

Come Christmas eve I was devastated that we had yet to hear from the Doctors. I had been so looking forward to enjoying Christmas Eve and Christmas with our families. Hopeful that the tests would come back fine. 

I decided to keep myself busy and I decided to do something fun to keep my mind occupied. I decided to look up fun facts about the baby’s weekly growth and compare it to a life object that Mayson would understand. So I sat down and created EVERY single week for our pregnancy. To some this may seem daunting. To me it was a place I could take my mind out of the horribly places I allowed it to travel. This weekly update NO MATTER what the news may be would show the growth of our baby girl. Who was going to be amazing no matter what news we got in weeks to come.

I was going to start with week 16, hopefully something would pop out in the belly area by then lol! 

God answered my prayers and at 4:45 (If I recall correctly) I got the call that all choromsomes looked great! SUCH A HUGE sigh of relief. It literally was the best Christmas Eve ever. 

But then shattering news. There was ONE last thing we were going to look into. The nurse told me to familiarize myself with it and think on how Ryan and I would handle it if it did come back positive.

AGAIN, I reminded her that we were keeping this sweet baby no matter what. And was saddened that we had yet another thing to wait on. But I was determined to not let it get me down. I was going to enjoy Christmas Eve and be thankful for the wonderful news we had gotten thus far.

Sharing with our families what was really going on...

The news is OUT! And now it was time to share the news of what we were waiting on.

We had a friend of ours watch our Son so that we could go and explain everything to our immediate families. I wasn’t sure how Ryan or I would hold up telling them so we didnt want Mayson to see us upset. But thankfully we both did really well! 

We explained as much as we knew, as good as we could to each of them. It went really well. I only broke down a couple of times! 

I was so happy that My mom knew. If there was anyone I could break down to other than Ryan it was her. But I could even tell her was nervous.

A part of me felt so terrible having to give them this news, scare the hell out of them....then bring them back to normal breathing level that the first five choromosomes were good........and then bring them back to worrying again that we were waiting on the rest of the choromsomes.

I was happy to have our families rallying around us....but felt terrible bringing them into the world of worrying that Ryan and I had been feeling for two weeks now.

We shared about our pregnancy on facebook and had an outpouring over excitement from all of our family and friends. I almost felt guilty not telling everyone what was going on...I wanted to, but I was still in no way shape or form to answer the questions I knew so many would have....when I really didn’t have any answers yet for myself. 

Our Over Due House Warming / Pregnancy Announcement Party

So while I was excited to have this party I was at the same time dreading it. When I was making the details of how we were revealing in the back of my mind all I could think of was we have so many other chromosome results we are waiting on. I was SICK to my stomach to think that the day after we share this amazing joyous news I will also be putting fear into our families mind and having them join us on this waiting game. 

The morning of the part I was hugging the toilet. Our friend came over to help and I continued to sneak into the bathroom to throw up. I hadn’t been sick at all this pregnancy. The only days I remember being sick were on stressful days, and the day of the party all I thought about was.......

1.) am I going to be able to fake it and be really excited like everyone else is going to be? 

2.) will I be able to tell our families without falling apart the next day?

Everything came together just in time. Below are some images of the get together and how we revealed that we were pregnant and having a baby girl. I did allow myself and my mind to relax and enjoy the excitement in everyones face. But as I reflect and type this I still have the same knot in my throat like I am going to have to tell them again. 

My sister quizzed my friend on why I could know so soon the sex of the baby and was something wrong. Thankfully she is good at lying and said the tech was really good. 

Five Days Of Waiting....plus 1.

The Monday after the testing I was holding up pretty good.

I did have some cramping that scared me on Monday. I called and mentioned it to my friend who was amazing and had me come in. (Monday December 15th)

She had the Doctor in the office do a scan after us not being able to hear the heart beat via doppler. Which didn't freak me out because she had warned me that we may not hear the heart beat this early.

But we heard it, saw the baby moving, and everything looked just fine when he did the sonogram. I was so relieved and thankful.

I think my heart grew in that very instant. It had been four days and the high risk dr said if we were going to loose the baby, it would likely happen a few days after and all looked good.

Thank GOD.

That helped the waiting a little better. The Doctor told us that we may hear something on Tuesday, which is when he told me to call if I hadn't heard from them......soooo I was counting down the days and hours until 3:00. Each day that passed I felt worse. Your mind can be your best friend or your worst enemy and I found that to be more true than ever.

I am so thankful I had Ryan and our friend to talk to me. I had melt downs to both of them, but also surprised myself at how well I put on a happy face for those around me.

On Tuesday December 16th 3:00 came and went.  I called like they told me to do and to my utter shear fear they said they didn't have the results. She said she would call the lab and see if they could tell her over the phone.

I lost it. I was hysterical. I waited five days for these results and they didn't know yet! Ryan called, to see if they had gotten anywhere and left a message.

She called back and said we had to wait another day.

I didn't sleep at all the night before waiting, there was no way I would be sleeping tonight waiting again.

That night around 1:00 am I still wasn't sleeping. I had to wake Ryan up because I was so worked up and couldn't be up by myself anymore. I asked him to pray with me.

He put his hands on my stomach and prayed. I don't remember everything he said but I remember for the first time since we had the 12 week visit and this all started happening that I felt complete peace. I actually though to myself while he was praying "wow, I have never in my life heard Ryan pray like this" it was amazing. And I rolled over and went to sleep.

The next day I asked him to pray again while we were waiting to hear and while it was still great to hear him it was nothing like the night before. And I brought up the night before. He had no idea what I was talking about. He knew I had woken him up but didn't remember praying at all. I truly believe with all of my heart that God was speaking through Ryan to calm me down. I knew right then that my prayers were being answered and that no matter the outcome we were going to be okay.

The day of waiting was long. It was hard to think of anything but the phone call. I prayed to her the nurses voice when the call came because the Dr. told us that if it wasn't good results he would call us. So all day when I answered my phone I dreaded hearing a mans voice.

And finally we got the call.

And it was her.

I was so relieved already.

At this point several people would be excited because we were also finding out the sex of the baby. At that point I didn't care I just wanted good news!

And she said that we were all clear of the first five! I started crying.........I was so happy and could breath a little easier. I knew that our road wasn't over yet, because she explained we still had to wait for the other chromosomes but that the first most common we tested negative for.

I was so happy. I couldn't wait to get off the phone and call Ryan. I totally forgot that we could find out what we were having.

Right before we hung up she asked me if I would like to know. I couldn't believe I had forgotten that part!!!!

It was a GIRL!!!!

I would be lying if I said that I was overjoyed....because really I was just overjoyed to get off the phone and call Ryan that it hadn't truly sunk in that we were having a girl. We had always thought we were going to have boys.

When I called Ryan he was so excited that the news came back and so far we were good. I think asked him "well what do you think we are having" and he said "I have said a girl" and I told him "Well you were right" and I was crying. With excitement that even thought we were excited about it being a girl we were excited more for the fact that the start of this scary journey ended with good news.

Now more waiting. And preparing for our house party.

We had decided that if the news wasn't good we would be telling our family and friends before the house warming party. But if this first round came back good we would let them have the excitement of finding out we were pregnant, and having a girl....and the next day go visit everyone and explain what we were going through and the waiting that we still had.

I got busy making plans of picking up pink balloons and focusing on being excited to share this news vs. worrying about the weeks to come.

This baby no matter what was going to be celebrated, even if we hadn't received good news today.

She is a gift.

Our first visit to the High Risk Doctors.

I don't think I slept the night before this day. For a few reasons, one it was my mothers retirement breakfast in the morning, and then following that I would be headed to our appointment.

I remember staying up late working on cupcakes for the party and my sister saying "Ashley don't exhaust yourself, mom wouldn't want that, you have so much going on right now"

In my mind all I wanted to say was "Erica, I AM doing this to KEEP MY MIND OFF of what I CAN'T STOP thinking about." But I didn't.

I know that I was probably the worst person during this time to deal with for my family and friends and I feel bad looking back now because I know that I was taking my worry out on everyone around me, who had no idea what was going on.

On the drive to the Dr. I told Ryan that if I saw that our measurement was over 3.0 I would probably have a break down right there on the table. He assured me that all was going to be just fine. Like he always does. Sometimes it works, but it didn't today.

We made it to our visit and everyone was very nice. Everyone looks at you like they feel sad for you....because lets be honest, most woman in there aren't there because everything is peachy.

We got called back and they started the sonogram.

I of course asked questions which I know better to not do because the sonogram technician isn't able to tell you.....so the answers to my questions were "The doctor will be reviewing all of this and going over it with you"

The sonogram seemed to take forever to me. And I watched her like a hawk and noticed she typed in 3.2 several times. I looked at Ryan and surprisingly I held it together.

I found comfort in holding a cross necklace that my parents got me when I was 16. I carry it when I have stress because it has always calmed me, and today I held onto it with a death grip.

The sonogram tech left and shortly the Dr came in. He was very nice. He introduced himself and explained that usually when there is a high nuchal that usually is a red flag for something. He listed off the 5 most common syndromes.....only one of which I knew what it was which was Down Syndrome. Then I remember he said Turners syndrome which I asked about and asked what it was.....he made it seem like it wasn't a big deal! Which compared to other things maybe not but if we were having a girl the thought of one day telling her that she develops like a female because of medication and that she would never be able to have children was devastating to hear.

The Doctor I think knew by the look on my face that hearing what that syndrome meant was heart breaking and he said "I will sit here with you and Ryan all day and speak to you on each syndrome that  it could possibly be........but all I will be doing is giving you more things to worry about while we wait for results if you decide to do further testing"

He was right, and I agreed. I did not want to know anymore. Ignorance is bliss, and for the first time in my life I agreed with that statement 110%!

He then explained that because Ryan and I have already conceived a child that has no birth defects or syndromes that having a high nuchal is a bit of a concern since we are so young. He compared us to an older woman coming in and her having this measurement would be a concern and he highly recommended that we do further testing.

The nurse that called had touched base on what the Dr may want us to do and mentioned a CVS.

He started explaining the CVS to us and that within 5 days we would know the results of the 5 chromosomes, and that within two weeks we should have results on all of the other chromosomes. W  e will then possibly look into noonans syndrome but not to worry about that yet. The main focus was on the first 5 chromosomes.

He explained how the test would happen and that I would be awake. That the position had to be perfect for him to get a good sampling. His eyes would be the sonogram to detect where he was going, and that Ryan could stay in the room.

He asked if we needed time to decide. Ryan and I were both on the same page. I am not sure if I have said it before but I will say it again. I always thought that if ANYTHING ever came up in my pregnancy of there possibly being an issue that I would leave it in Gods hands. But when the Doctor explained to us that the most important thing right now is to figure out if there is a problem and how severe it may be.....and that it is a good thing to know so we are prepared with the correct team of Doctors......your ideas on what you will do quickly change. While my faith has not wavered at all during this process.......I wanted to be prepared, we wanted to be prepared.

So we decided to do the procedure.

I know it didn't take to long but it did feel like forever. He got a good sample which I was so thankful for. He told me that it would be 5 days and that if I didn't hear from them by 3:00 on the 5th day to call them.

He said I may have slight bleeding and cramping...that if it got bad to call them. I had to go back to work and had three sessions when I returned to town, I asked him if I should cancel them. He asked me if I lost the baby would I blame myself and think it was from working.....I told him No that if it was okay to work I would prefer to keep my mind busy. He said he asked that because he has some woman who lay still for days after and when and if they loose the baby they blamed themselves, and assured me that usually if a baby is lost that there was something wrong.

We drove home and were both pretty silent. I cried, not a lot. I was more numb than anything. I have never known waiting to feel like that in my entire life and we were only an hour into 5 days of waiting.

When we got home I went to my sessions. I felt fine, I had no cramping at all. The next day Ryan it was a Saturday and Ryan had things to do so it was just me and Mayson our son.

I could barely watch him play without getting chocked up. Thinking what if we don't have another baby who can play like him? What if we have a baby with something wrong and Mayson doesn't understand? My mind was playing some serious games one me.

So I loaded him and myself in the car and went to my parents. At that point I was cramping and knew that my parents would be a good distraction for him and myself. My mom was hanging Christmas lights and I sat outside focusing on my stomach hurting. Which scared me. Shortly after being there Ryan came and we went home where I rested. And waited some more.

There are so many Questions I wish I could have asked someone so I am going to answer them below.

1.) Did it hurt?

           Not really. It was certainly uncomfortable....and when he said he had to test to see if he got a good sampling and may need to come back I prayed hard that he wouldn't have to do it again.

2.) Were you scared?

           Uhhh hell yes. I was so scared that the hand my husband was holding was shaking and my legs were shaking.

3.) Did you think you were going to loose the baby?

           I think every mom who is pregnant is fearful of this happening. Then to add that you are doing a procedure that does have a risk of miscarriage those fears are even bigger. So yes, I was scared.

4.) How did you feel after?

           Awful. Not because of the procedure but because I was scared and the waiting game had started.