Cardiologist echo appointment

The specialist we had saw had requested we see a cardiologist to get a better look at Elizabeth's heart because they couldn't get a good picture because she was to wiggly.  So we had found out the results and part of me really did not want to go to the appointment, I didn't want to hear one more thing.  I wanted to just enjoy the pregnancy without any more bad news.  I now understood why some people dislike doctors.  I know they are doing their job and they were all very nice but I just didn't want to go to one more doctor for one more appointment.  So after the results I was dreading the upcoming visit.  When the day came I told myself that it didn't matter and it was just a doctor's visit and what else could they really tell us, but my body was revolting.  I felt sick and nervous.  Once again I headed out to pick up my husband at work and to head to Primary's Children's Hospital this time for the echo of Elizabeth's heart. (Yes, in the meantime we decided that Elizabeth Ann was her name, we felt that we needed to have one so we could be prepared if she came early.) So as we enter the echo the tech was not very talkative which made the whole thing even more nerve racking.  I wanted to just scream say something anything.. how's the weather?  So the echo is just an ultra sound where they look at the heart more closely.  So the whole time she was doing the echo I wanted to ask if she had audio so I could hear my baby's heart beat.  I don't know if I will get to hold her alive and I just wanted to hear it, but I never did ask.  (I know I need to be more assertive . She then finished and said that the doctor would be in shortly to go over her findings and do a little more herself.  After the tech left we both looked at each other and and we both knew what the other was thinking.  That was the most awful visit yet, talk to the patient specially when you know they have received bad news the last couple weeks.  The Doctor came in and was very nice she talked a little bit more and was quick.  She then completed and said she would let me get dressed and we could go to the consult room.  (Ok now I was really freaking out).  I just wanted them to tell me what they saw it was worse not knowing.  We went to the consult room and the doctor came in shortly and discussed what she saw.  She saw what was known as a  ventricular septal defect.  She explained that this is common and that it was fixable.  She informed us that she would survive in utero with these defect and could even survive outside utero but at some point would need open heart surgery to fix the whole in the heart.  She was very nice and tried to be sensitive to our situation but was trying to say that this was not the most serious thing we are facing with our Elizabeth.  She stated that if she did survive and was strong enough at about three months is when they typically do the surgery.  We asked about if it was based on weight in order to due the surgery because we knew there was a strong possibility that she might not be very big.  She said that weight was a factor but not the only one. I just started crying because all my brain was thinking at this moment was so if my baby lives she is going to be faced with surgery after surgery and she is going to need to be one strong little girl to make it through everything that is facing her.  We knew that she eventually would need surgery on her cleft lip too if she was to live for long, which of course is rare.  I left just feeling completely and utterly overwhelmed.  I now had to make regular appointments with the cardiologist on top of with a specialist and who knows who else.  It was very daunting at that moment and I left feeling discouraged.  I spent the day with my husband and left the kids with my mom.  We just enjoyed one another company and was just trying to take it one day at a time. We discussed just enjoying the pregnancy and trying to be excited still for her.  It is hard to be excited though I love her with all my heart all ready but knowing what I will need to face at delivery makes it hard to maintain excitement.  It is my goal to try to remain excited and to enjoy this little girl for whatever time I get including now.

Blood test results

It was Tuesday and the last two Tuesdays we had found out about the cleft lip and then about the possibility of trisomy 18.  I was home that day doing laundry and playing with my kids.  We weren't expecting any results yet because they said it would take 7-10 business days and it had only been 5.  I was talking to my husband on the phone about our upcoming trip we were deciding if we should book when I got a call from an unknown number, now normally I don't answer unknown numbers because I figure if it is someone who wants to talk to me they can leave a message and I can screen them, but since we knew that at some point we were going to receive the call about the results that I had started to answer unknown numbers.  So I told my husband to hold on.  I flipped over and the genetist asked if it was a good time to talk because they had received my test results back.  I said yes (is it ever a good time to get results back that could be hard to hear).  She proceeded to say that the test results did come back with abnormal results and that our daughter most likely had trisomy 18.  She proceeded to say that we could do an amnio that was 100% sure but that the blood results were 98% accurate.  She asked if we had questions and let us know we could contact them at anytime with any concerns or questions.  She continued to talk to me and apologize for the results and say how sorry she was to inform me.  I asked a few questions but once again my mind was blank, but as soon as she told me it was almost a peace that immediately came with knowing instead of the unknown.  I think the past week we had been prepared to hear the results without wanting to accept that was what they were.  I still cried but I kept most of it in because I needed to for myself and for my kids who were down the hall and had no idea what was happening to their little sister.  To them they were still completely excited.  I then called my husband to let him know what the results were.  I felt awful because he was at work and I was at home at least.  We discussed who we were going to tell and when.  I asked once again if he wanted to come home and he asked if I needed him to.  We decided that he could remain at work but we could hold each other later that night.  The next couple hours I tried to just ignore the phone call because I wasn't ready to tell me and since no one was expecting the results I could, plus most my family was at work and I didn't want to ruin their day but it was going to be inevitable of ruining their day.  I finely called my mom and told her who in turn told my dad.  I remarkably held it together talking to both of them.  I think at this point my tears were dry I had nothing left to pour out.

Days following specialist visit

The next several days were a blur and difficult to get through.  When people asked how are you doing... part of me wanted to say horrible and explain why but of course as a society we normally just smile and say fine and that is what I did.  I wasn't ready to discuss with others outside my family what was really going on inside.  it was hard enough to discuss with them.  I think my husband and I really only shared with each other what we were truly thinking and feeling.  I think we thought of every possibly situation if she had trisomy 18 and what steps we would need to do and how we would need to prepare.  We tried to be optimistic but when we discussed it together it just felt that we needed to just pray to accept whatever the Lord had in store for us. That week was the longest week of my life.  I didn't sleep and my mind did not stop.  We had so many things going on and time moved so slow.  I only got out of bed because I had two children who still need a functional mom and I still had work to do so we could pay our bills.  Although part of me wanted to curl up and just cry and not come up I knew that wasn't the answer and I needed to show my faith and strength to my daughter and Heavenly Father that I could do whatever they may need from me.

Maternal Fetal Medicine Visit 1

We had our first visit with a specialist with Maternal Fetal Medicine that was going to do a more in-depth ultra sound.  We headed into the appointment thinking that they were going to look at the cleft lip and double check everything but maybe give us a better idea the severity of her cleft lip.  The ultrasound tech started doing all the measurements on our little girl.  She kept laughing the whole time and explained that she was laughing because our little girl was very active and every time she went to freeze the frame she would move and she had to keep trying.  So we discussed our other children and how they were movers too.  I talked about how I couldn't feel her that much.  The tech stated that was because of where my placenta was (which we knew it was in the front so it was acting as a pillow).  She finished and stated that the doctor would be in and go over everything also.  So the doctor entered quickly after and started also doing an ultrasound and measurements.  She was talking us through what she was seeing.  She seemed to think that things look good.  At the end she did mention that she never noticed our little girl open her hands.  She said this could be coincidence or it could be what they call clenched fist.  She showed us the cyst and repeated pretty much the same thing my doctor told us that it could be a marker but it doesn't cause harm itself.  She then said she was sending in the genetic counselor to talk to us.  My husband and I looked at each other and talked about how they barely talked about the cleft lip, and only that it looked like it was unilateral and on the left side.  The genetic counselor and her intern came in and started to talk about what they were noticing on the ultrasound.  She stated they see three markers that could possibly be trisomy 18... have you heard of trisomy 18? We look at each other and say no we haven't.  She continues to say that the cyst, the cleft lip, and the clenched fist could be markers for trisomy 18 which is a rare thing that happens at conception where three chromosomes 18 are  formed.  She then started to talk about the stats.  She states that their is 1-6,000 chance of having a child with trisomy 18.  Of that most do not make it through delivery alive and those that are born alive have less than 10% chance of making it to age 1 with most only living a week or less.  Ok so these stats are awful to hear and I think we were just so stunned.  I of course immediately had tears rolling down  my face.  If someone tells me that I most likely won't get to hold my little girl alive I am going to cry and not know what to say.  The genetic counselors were very nice and talked to us about our options with determining if our daughter had trisomy 18.  We could do a amniocentesis which is 1-250 that can have a miscarriage from the procedure or we could do a newer blood test that looks at three different chromosomes 18, 13, and 21. The blood test is normally not covered by insurance because it is newer (ok I am thinking money is not important at this point but I know they had to warn us so we could be educated with our decision). At this point I don't either of us knew what to do or what to say.  Jake spoke up and asked if we could have a minute to discuss.  They reassured us that we could take our time and left the room.  We both just looked at each other and started to cry.  I said I have no idea what to do.  I just wanted to rewind the clock and go back to having just a cleft lip possibly facing us.  We discussed the amnio and decided that we didn't want the additional risk and the blood test was not a risk for either myself or the baby.  We had the doctor and gentist come back in.  We asked if the amnio increased the odds of miscarriage if our baby had trisomy the doctors did not think so.  The doctor talked to us and said that we could do the blood test and if we then decided to do a amnio later that we could.  We said we would just do the blood test.  They informed us that the results could take 7-10 business days. They also let us know that the blood test had a 98% accuracy for detecting trisomy 18.  So we pulled ourselves together and headed to the lab to get my blood taken.  After the blood draw we got in the car and I asked Jake if he was ok to go back to work he stated that he needed to so I dropped him off and headed home.  I was not looking forward to informing our family that once again we found out additional concerns with our daughter.  I don't like seeing other people ache let alone know in some way I was causing that pain and sorrow.

Coming to Understand

After the news from the Doctors I was a complete mess and was trying to cope from day to day.  Instead of researching on the medical sites online I started to look at personal blogs about their journey and experiences.  I found these to be much more reassuring and helpful.  I started to see the light in my darkness. My husband and myself also went to the temple to gain a better understanding of what our Heavenly Father plan was and to receive His comfort.  After the temple and reading blogs I started to accept my reality and to find peace to know I could make it through and would be the strength my daughter needed to get through what may lie ahead.  This did take me some time and although it had only been about 6 days since we found out about her cleft lip it had felt like forever for us.  My husband was more of our pillar of strength and helped me see reason.  That this is fairly common and that there are great surgeons who work wonders.  Now I say I came to accept my daughter fate but it doesn't mean I didn't still cry and have hard times but it seemed that I was more positive and clear on what I needed to do and be for my daughter.

Follow up with Doctor from 20 Week Ultrasound

Jake and I headed into the Dr without the kids this time to talk to them about what they saw in more detail from the ultrasound.  The doctor was very nice and was reassuring that this was one on the more common birth defects although it is 1 in 600 who have a cleft lip. He talked about the cyst saying that it is just fluid filled and can be a marker and it alone does not cause any damage to the brain.  He stated that there was a slim possibility that our child could have down syndrome (what? again!)  he continued to say that he doubted that was the case because we were still young and we had two healthy children.  So he really downplayed the cyst and just stated that he would refer us to a specialist to have a more detailed ultrasound with a better machine then they had at the office.  We asked some questions about if he thought it was a cleft lip or cleft palate he said he could just see a cleft lip but he wasn't sure.  Jake of course asked if in any way I caused this (more so I could here that I didn't) and the doctor reassured us that this just happens and I did nothing wrong.  So we left the doctor office and I was feeling still completely overwhelmed but talking to him did help some but I was still trying to adjust to the fact that my daughter who I had visualized was going to have a tougher beginning that I had imagined.  In my work we use this poem from Emily Kingsley called "Welcome to Holland" this poem kept coming back to me and it is a great way to explain how I was feeling about the journey ahead.  (if you haven't read it look it up here) After the doctor Jake was headed out of town for work, I know perfect timing right!  So he left and I was left at home with all my running thoughts and not sure how to get them out.  I started writing them down because I couldn't talk to him and didn't really want to talk to anyone else about them at this time.  My other kids were asleep and so this is where the blog idea came from.

20 Week Ultra Sound

Okay so we already knew what we were having and thought it would be another good time for the kids to come see their little sister moving. The ultra sound tech started measuring and looking at everything.  She was saying how active our little girl was and that things were measuring good.  By the end the kids were getting a bit restless so Jake stepped out to take them to the waiting area.  The tech finished and then stated I noticed that your baby has a cleft lip...(what?) so I kept it together and she asked when I would be seeing my doctor.  I let her know that we had the visit scheduled for the following day.  She said that he would talk us through it at that time but if I had any questions or concerns I could give him a call.  (my mind wasn't quite working but of course I was going to have questions and concerns).  I went out to get the kids and Jake, Jake asked how it finished and I just motioned for us to go (I was starting to get emotional and didn't want to lose it in the office and in front of my kids).  I started to tell him as we entered the elevator as tears were rolling down my face. The kids started asking what was wrong but then another person stepped on the elevator, so I just said nothing.  We left the office and of course had driven separately so Jake could head back to work. So we sat in the car and discussed what the tech said.  Jake was very calm and was more like is that it... is that it my beautiful little girl is going to have a cleft lip.  I was just thinking about what others might think or say when they saw it.  (I know that it is very shallow but the reality is that is our world).  I headed home and tried to just process everything.  As soon as I got home I started my search on the internet... not a good idea... I started reading more about them and started feeling like somehow I did something to cause this.  I ate the wrong thing or did something during the pregnancy that would cause this... now I knew deep down that I didn't do anything I don't take any medications and I take my prenatal and for the most part try to eat healthy. So I called Jake crying because I felt that this was my fault.  Jake said exactly what I knew he would that I didn't do anything.   My doctor ended up calling me and talked to me about that this is the most common birth defect (defect yes that is what it was and I didn't want my baby to have any defect).  He also stated that they did see a cyst on the brain.  He said that this was not a concern he saw these all the time and the 90% of the time meant nothing.  He continued to say that there was great surgeons and they had done these surgeries a ton.  After the phone call I felt a little better and decided to just not look on the internet for a little bit.