Wednesday, March 29, 2017

Mosaic Down Syndrome

On March 20, we got our results from the FISH test. Down Syndrome. It was like hearing the news all over again. I cried again, this time it didn't feel as horrible as the first. When the geneticist called, she told me the news and paused as if I was supposed to act really upset. I don't think she already knew my world was turned upside down. I txted all of my friends and family to let them know. Everyone had the same reaction like I was telling them for the first time. I didn't sleep that night either. I couldn't believe looking at the ultrasound, that the picture perfect profile little girl had down syndrome.

March 27, I had gotten a call again from the geneticist. I figured she was just going to tell me they grew the amniotic fluid and that it did confirm again down syndrome. It caught me a little off guard when she said do you have time to sit and talk. I went into our room and closed the door so I would have no distractions. She started off by saying after they grew the cells, it is confirmed again that your baby girl has down syndrome. But what I am calling to tell you is that your baby has a very rare type of down syndrome. We were able to get 16 cells and of those 16, 11 of the cells have the extra chromosome 21. The other 5 cells are perfectly normal. She then told us that this type of down syndrome is completely a fluke. That sometime during the embryonic period, the cell decided to make a third copy. If you were to get pregnant again the chance of this happening again would be less than 1%.  She told me that she didn't know much about mosaic down syndrome, and didn't even know if she had met anyone who had a child with it.

After that phone call I decided to do my own research and message as many moms as I knew on instagram who had a child with down syndrome to find out what type they had. Turns out no one. No one knew of anyone who had it. I had other moms messaging me of how envious they were that that was the type my baby had. I still didn't feel any better. I looked up google images to see if I could find out if mosaic down syndrome looked any different than normal down syndrome. Turns out they do. Most of them look like "normal" little kids. I had a couple of moms tell me that because it is mosaic, they still have a lot of the same health problems that come with down syndrome, but maybe not as severe. It all depends on what parts of the body are effected. There is no way to know that parts are effected unless you took blood or some type of sample from every part of the body. After looking up the hashtag mosaic down syndrome, I found a total of three moms who have kids that have this type. I messaged one to find out what her experience with it was. Her daughter didn't look down syndrome, but she did tell me she still has delays. She took longer to walk, to talk, to crawl etc. I then asked her if her baby had low muscle tone, like most kids with downs do. She told me that only in the beginning but told me it wasn't bad at all.

We have no way of knowing how our baby will be. Its almost frustrating in that sense. She could look fully down syndrome and not have all the handicaps that come with it. She may look totally "normal" and still have all the handicaps. Its just another waiting game. But after hearing a few people talk about it, my fears have turned into excitement. We are getting such a rare baby. It almost feels like i've been struck by lightning, or won the lottery. I know god doesn't make mistakes, and that he knows just what he is doing by sending us our baby girl. But I will save that part for another post.

Thursday, March 16, 2017

15 weeks- amniocentesis

Since the last time I wrote, a lot has happened!

This past wednesday March 15, I had a big appointment up at Utah Valley Regional Medical Center. That morning I woke up, showered, threw up and just had plain anxiety. I had an idea what they might do at this appointment, and in my mind both Steve and I were planning for the worst.

We got to Utah Valley about 20 minutes early where we filled out paper work and waited to be seen. Once we were back with the nurse, I was weighed, and then had my blood pressure taken. As always my blood pressure was high- 135/91, and 145/87. So as usual I had to do a urine sample to check for protein and wait some more.

Once back in the ultrasound we met with our ultrasound tech. She told us in the very beginning she would just scan and then the doctor would come in and check on the results. She seemed very cold to both Steve and I. She didn't answer many questions and if she did her answer was always, "the doctor can tell you more." She was super fast, but i was really trying to pay attention (I even wore my glasses so i would see better). I watched with each measurement she put in the computer, and caught her off guard when I asked her if she had typed 3 vessel cord. The whole thing took about 30-40 min and then the doctor came to talk with us.

When we met with the perinatologist, she was very nice and seemed to calm both Steve and I. She first talked about the measurements. She told us our baby is measuring 2 days ahead! 15 weeks and 3 days! She talked about her femur and how everything looked comparable with dates. She looked at her kidneys ( most kids with down syndrome will show water on the kidneys and it will almost look like a second stomach). Everything looked perfect with her kidneys. She next looked at the stomach, again most kids with down syndrome will have a small obstruction or something not formed right. Her stomach looked fantastic! She checked her nuchal fold on the back of her neck, in down syndrome they will have thicker necks. Our baby didn't have that. She didn't have the "sandal toe" feet that kids with down syndrome have. Last we looked at the heart. They found a small white dot ( I can't remember what she called it) which IS a soft marker for down syndrome. Our doctor told us that if she did not know our blood test results she would have thought nothing of it. She would have told us that our chances of a down syndrome baby at that point would have been 1 in 500.

She then went through our options. Either we abort the baby, put the baby up for adoption, or go through the pregnancy like normal and get an amniocentesis since they can't tell from ultrasound if she has it or not. Without me saying anything Steve answered we would like the amniocentesis.

We had talked about it before and decided this was something we wanted. It would give us 100 percent accurate results so that we could start preparing for a special needs child. They got everything prepped and ready to go. I was a nervous wreck my whole body was shaking. If you have ever seen a picture of an amniocentesis then you know how scary the pictures can be. I closed my eyes, they scrubbed my belly, and in went the needle. I didn't hurt as bad as i was anticipating, but it still really hurt. She told me it would only take about 20 seconds. It was probably like 30 seconds when i asked if she was done yet. They had to switch the syringe out half way through because it was too big. That I think was the worst part.

We finally were done, she showed me the amniotic fluid they got, and told us congratulations this is your babies first pee! She explained to us what would happen next. If our insurance will cover it, they will do something called a FISH test. This dye that will cling on to any extra chromosomes that are present which would take three days and we would find out Monday. If the insurance didn't cover it then we would wait and they would grow the culture in a lab and get the results in 10 days.

It felt like we were on cloud 9 yesterday. We got such good news, about her health and everything. I started to get this hope that maybe she isn't down syndrome. But now here we are today and I'm starting to feel sad again. Now we just sit and wait, and pray for the best. I pray every night she is fine. That some how I will get a miracle. It's just a waiting game now.

Wednesday, February 22, 2017

12 Weeks-the blood test results

I hope to write this down so I never forget. I hope one day I can look at this post and laugh. But February 16th 2017 will be a day that will forever be engraved in my mind.

Steve and I took Landon to Disneyland and we were all having a great time. I knew that my blood test results might come in while we were in California. I was hoping they would. I planned on buying either a boy or girl outfit to surprise my family with the news. We were standing in line for the monsters inc. ride when my Ob's office called. I answered, and they said to me, "Is there any way you can come right now. We just received your blood results and would like you to come in to discuss these with your doctor." I told her I was out of town and wouldn't be returning till the next week. She then wanted me to come in as soon as we got home. I asked her "Why? Is there something wrong?" She says "No, but your doctor just likes to review these results in person." I was relieved when she said nothing was wrong, but deep down I knew something wasn't right.

I decided I couldn't take not knowing. I decided to txt my doctor and ask him myself if he could tell me the results. He told me he was skiing and that he would call me when he got back with the results. That was fine since we were still going on rides. I later got a txt saying Laura I've reviewed your blood results call me when you get a minute. I told him i was about to get on a ride and if i could call him after. His reply was no. Please call me when you get back to your hotel. I knew it. I knew something wasn't right. We got dinner and Steve convinced me I needed to call right then. We found a quiet place where he broke the news to me.

At the beginning it was small talk, and then he told me the results. "I wanted to let you know that you are pregnant with a baby girl." "She has also tested positive for down syndrome."

What? Me? Why? Why was this happening to me? Were the only thoughts that were in my head. I didn't even hear the rest of the conversation. I heard the words down syndrome and my life shattered into a million pieces.

I cried and cried and cried some more. It was harder to break the news to my family. So many questions came up that I had no answer to. The whole trip to disneyland was a blur.

Which brings me to today. February 22. Today I had my first Ob appointment since finding out. It was hard. I cried a lot. The doctor teared up. It's a hard thing to face. He told me the game plan, that we will be starting to see maternal fetal medicine at 15 weeks. We will be meeting with genetic counselors and a more in depth ultrasound. Especially of the heart. We will also be getting an amniocentesis. On top of this I have my blood pressure to worry about. I've lost weight and hope to not lose more. I found out my chances of miscarriage at this point are extremely high. Lots and lots of unknown.

I'm gratefully to our families, friends and co-workers who have reached out with loving word of encouragement. Especially to my husband. He has had nothing but love for this baby down syndrome or not. Im trying to be more like him.

Sunday, February 12, 2017

Baby #2 Continued

Im officially 10 weeks and 5 days along.  I got sick just like last time at 6 weeks exactly. I feel like crap 99 percent of the time. It's hard to say if this is like my last pregnancy since i don't really remember how I felt last time. I will say last time was a lot easier because if i woke up sick I would just go straight back to bed. I plan on doing weekly updates again only this time I will be starting at 12 weeks since I'm not really showing yet, just super bloated.
This is how we announced on social media only the chalk board had writing on it
My official Due Date is September 5, 2017. We went in for our first ultrasound a couple of weeks ago and baby was measuring 2 days ahead. If my next appointment the baby is still big we might up my due date. Either way they told me I will most likely be delivering in August. Hoping my blood pressure stays down this time around. At my appointment my blood pressure was 159/75 and then after sitting for awhile it was 129/72. Typical me. I got my blood drawn a couple of days ago, and we find out whether we are having a boy or girl this week or next. The test also tells you if there are any anomalies. Hoping for a happy healthy baby. Can't wait to find out!

All about baby #2

It's been awhile since I have updated this blog. To be quite honest I forgot all about it till I found out I was pregnant again and wanted to see what my last pregnancy was like. So here is a quick update on life and all about this baby.

We sold our house in August and we moved to a small apartment. I can't stand this place. We were searching for a new place to live the week we moved in. We found a cute little area up the street from us called Vineyard. We put money down on a lot and we are just waiting for our house to be finished. Which seriously can't be soon enough. Right now they are telling us our house will be done in May. Crossing our fingers.

Last Day at our Provo house!
Landon Started Pre-School in August at Kids Village in Orem. It has been the biggest blessing. He wasn't talking at all. We had a speech therapist and an Occupational therapist coming to see him twice a month with no improvement. We finally called it quits and told them it wasn't working out. The week he started pre-school he started to repeat words we would say and now fast forward to February he is now talking in full sentences. We will forever be grateful for Miss Cassy and Landon LOVES her.
First Day of Pre-School and a little sad to be leaving Dad

Pre-School pictures for the school year 2016-2017

Now fast forward to December 2016. Steve and I had talked about having another baby, and we had been trying for a few months. I was started to get discouraged thinking this might be taking longer than we had originally planned. With Landon all I had to do was think about having a baby and boom! I was pregnant. I kept telling Steve if i wasn't pregnant this month then we would stop trying for another year. I had taken a pregnancy test about five days early and I got a negative. And that was that. We would wait another year before trying again. It was Christmas eve and I kept thinking, this would be the best Christmas present to Steve if I really was pregnant. Before bed I went to the bathroom, peed on a stick, so while i was brushing my teeth I glanced down and Boom POSITIVE. I was shocked. I went right in to tell Steve. He was so excited we hugged, and then it sank in... Im pregnant. Can I even do this again?

Thursday, February 19, 2015

Landon Turns 1

I have come to the realization that blogging is a lot harder with a busy baby.  But here I am again. 

February 11, 2015...I have a one year old. 
As I have been looking back on this past year, it has got to be one of the hardest, but also one of the best years of my life. 
I still can't believe I will have a toddler this year. So crazy. 

Landons Milestones.
Landon started crawling 4 weeks before his birthday... I have a feeling walking is going to take a while as well.
We will find out how much Landon weighs tomorrow at the doctors, and find out what percentile he is in... I always find it fun to see how your child compares. 
He doesn't love food as much as he used to! He lets us know when he is full by spitting it out all over. 
His favorite foods are, fruit pouches, mac and cheese, toast, and oatmeal. 
He loves to stand! Any opportunity he gets he is standing. 
He hates walking with the walker he got for his birthday. 
Landon loves to crawl away as fast as he can when we are changing his diaper or getting dressed.
He loves to watch the toilet flush.
He loves the water! And any chance he can get to stand in the tub while it's filling up.
Landon learned to shake his head "No." Tonight I asked him "Do you love mommy?" and he shakes his head no. I'm hoping he learns yes soon. : (
He is such a happy and curious little boy. We love him so much and wish time would slow down 

Sunday, January 4, 2015

2014 Review

I can't believe we are in a new year already. 
This past year has flown by. Im convinced the older I get the faster time goes.
Here is my past year in review.

I was told I was still a high risk pregnancy. I would be having non stress tests twice a week, with blood work once a week and a urinalysis once a week. When I got that phone call I was so scared. I didn't want all of these test done, but in the end the doctors office became my second home.

The Biggest Event of 2014. Landon Suprise made me a mom on February 11. Bringing him home from the hospital was the scariest experience of my life. I didn't know how to take care of a baby, let alone a 5 pounder. Steve was a huge help to me. I can't believe it was almost 11 months ago I was up all night not knowing when I would ever see sleep again.

I saved every penny of my paycheck to finally pay off our car. Only a week later to find out we had forgotten to put oil in it. DUMB!!! We ended up buying a new car, that I think we both have liked so much better. I also returned back to work.

Landons first Easter. And starting to get the hang of this whole mom thing

We blessed our sweet Landon. 

We moved! We finally had a place of our own. Although it is a major project. We hope to sell it in a couple of years and move closer to Steves job out in Midway. 

Went with Stevens Family on a little vacation to California. Landon got to experience the beach, SeaWorld, and his first MLB game. He is a dodgers fan already :) 

Slow months. Not much happened. Steve went back to school.

I celebrated my 25th birthday, and our 4th wedding anniversary!

Happy 26th birthday to Steve. Landon also got his first hair cut

I woke up in the worst pain of my life. I thought I had the flu. Went to the emergency room because the pain wouldn't go away, I ended up having an appendectomy. 

This year has been one of the best of my life. And I can't wait to see what comes our way this year!