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.