During December 2011, Ricky and I found out that we were expecting another baby. The first trimester of pregnancy was hard with exhaustion, morning sickness, motion sickness, nausea, etc and it finally got better around 16 weeks (in the second trimester). I just kept saying that this pregnancy was different and I was right.. I just didn't know how right I was. So fast forward to March 30th and this is the day that Ricky and I went to our babies anatomy scan. This was supposed to be such a happy day because we would find out if we were having a girl or a boy. Makayla really wanted a girl, Blake really wanted a boy, Ethan preferred a girl, and Sarah was okay either way.
So we found out that we were having a girl and we needed to "hurry and get to the waiting room to see the doctor" per the ultrasound tech. I thought the tech looked at our babies heart a lot but I didn't say anything to Ricky because he would just think that I was paranoid. Ricky actually spoke up and said that he thought she looked at the babies stomach a lot. So we knew in our heart that something may not be right. So about 20 minutes later we saw the doctor and she started out our visit with excitement.. "So you are having a girl..etc, etc.." and then a few minutes later she flipped the chart open to say.. "we see something that we are concerned about..".
My doctor went on to say that it does not appear that our baby girls heart has developed the right way and they believe she has something called Hypoplastic Left Heart Syndrome. Everything changed with that.. "you can't deliver at your hospital, you need to switch to a high risk OBGYN so I will not be able to deliver your baby (and I love my OBGYN), you need to deliver downtown because that hospital is connected to the children's hospital, your baby will require open heart surgery, she will not be coming home right away, you need to get an amniocentesis to see if there is an underlying genetic/ chromosome issue related to this heart condition...etc.." Everything changed.. so I cried because of the unknowns. I just wanted to hear her heart beat and know if we were having a girl or boy- that's what I came for- not all of this.
So almost 2 weeks later I saw a high risk doctor, had an amniocentesis, had an ultrasound..etc. The high risk doctor confirmed the Hypoplastic Left Heart Syndrome so she did really need the three open heart surgeries. The amniocentesis results would be back in about 2 weeks but nothing else on the ultrasound showed concern so both doctors (regular OB and high risk) didn't feel that the amniocentesis would show anything because my blood work screening tests also came back normal.. and I wish their predictions were right but that is not how it turned out. Also, the high risk doctor said that our baby had about a 50% chance of survival just from the heart condition and surgeries alone. He wanted us to know how serious this heart condition was and if she was born before 34-36 weeks, they couldn't try to save her. Wow.. the news just kept getting worse and worse. I wasn't ready to give up and I just kept hope as much as I could while still facing the reality as best as I could.
So on Blake's birthday I spoke to the high risk doctor very late at night to learn that our baby had extra chromosome material and at this time they thought it was related to down syndrome. The conversation even ended with "have we talked about termination?". I didn't handle that well. I just said "No, I can't.. I can't.. I can't". So we stopped that conversation. We "were up against the clock because our state allows you to terminate up to 24 weeks and all of the chromosome results may take weeks" and I was right at 23 weeks. I just couldn't, I couldn't. The next day I spoke to my regular OB and she helped me to make sense of everything. During all of this I was told that my baby appeared to have Mosaic Down Syndrome (related to chromosome 21), a very rare form of down syndrome. About four days later I found out that it was not Mosaic Down Syndrome but now it appeared to related to chromosome 17 (possibly).
So we have since seen a pediatric cardiologist, a geneticist, a genetic counselor, my regular OB, and the high risk OB plus we have had 2 more ultrasounds. Things became very hectic, very fast. The saddest appointment that I had was when I was advised that it really did appear to be extra chromosome 17 material and this was not good. This actually meant a very poor, bad prognosis (grim is what I was told). I was advised to prepare myself that we may not have a baby because our baby may not make it. Her heart rate may slow down and this will show up one day when I go to the doctor.. so she wouldn't make it then. The other possibility was that our baby just may not survive the open heart surgery. The geneticist wanted us to be prepared for what the chromosome 17 could cause and he didn't want anyone to paint a rosy picture of the outcome. The geneticist also thought that even though the ultrasounds haven't showed any other markers.. we may start to see changes on the ultrasound (no longer growing good, head measurements could change, heart may not grow as well as it had, etc). This was a VERY sad appointment. I went by myself to this appointment because I was just going to hear the heart beat so I would be in and out.. why did anyone need to come?... Boy was I wrong...
So that sad appointment was on a Friday and that Monday I went to the high risk doctor to meet with the cardiologist, high risk doctor, and to get another ultrasound. My stomach was in knots- would she have a strong heart beat (she did this past Friday at about 141), would she still be growing on track, would her head or brain be growing right- just let me see the baby, turn on the ultrasound machine and let me see her. So guess what?!? She was growing on track, measurements matched the due date, weight was good, brain still measured good, heart beat still strong, heart growing, and the only marker still found was the heart. I was one day shy of 24 weeks pregnant and she was proving some of the theories wrong (except for the heart of course).
The results for the chromosome 17 test were not back yet (the geneticist had sent this to Seattle for a micro-array study and this was a confirmation of what they thought). The first meeting with the cardiologist went well and he said yes it does appear to be Hypoplastic Left Heart Syndrome. He said that she had a strong heart function and the heart growth was good which are positive, strong points when needing surgery. He drew pictures for us and explained everything. They will give her medicine to keep a PDA valve (that newborns have) open for the first week of her life. They don't like to do the first open heart surgery until the baby is about 7 days old so the baby has some time to recover from the delivery. The second surgery would be about 4-6 months later and the third surgery would happen between 2-3 years old. He also explained that we have two great Pediatric Cardiac Surgeons that would both do her surgeries (they both came from well known hospitals- Boston and Philadelphia). He estimated that her survival would be about 70% which was 20% higher than what the high risk doctor told us. We will meet with the surgeons once before I deliver and at the rate we are going.. I bet they say the survival rate is higher. I have never needed to know anything about the heart or chromosomes before so this is new territory for me (us)- we are learning but it can be sooo confusing.
That was a good positive appointment- about time, right? :) Then later that week the test results from Seattle came in and they confirmed that our baby has extra chromosome 17 material. This was heart breaking because they already explained to us what this could mean. I met with a genetic counselor and geneticist about 10 days later and they explained everything to us. They went through graphs and charts to explain chromosomes and what this all meant. Our baby has a Mosaic gain 17q21.31q25.3- makes sense to you, right? :) Essentially every cell in your body has chromosomes. A normal chromosome for a girl would be 46XX (23 chromosomes from Mom and 23 from Dad and XX means girl). As of right now (based on a chromosome analysis of her skin cells from the amniotic fluid), our baby girl has some 46XX cells and some abnormal cells. The abnormal cells have some extra chromosome 17 material on chromosome 21. They estimate that 30-50% of her cells are effected.
A mosaicism (think of mosaic i.e., mosaic artwork) is when you have some normal and some abnormal cells. So at our genetic appointment we learned that I needed to give more bloodwork to see if there was cross contamination during the amniocentesis. What does this mean? When they did the amniocentesis, did any of my bloodwork/ chromosomes mix in with the amniotic fluid? If there is a cross contamination this means that the normal cells were mine and that all of her cells are abnormal. Cross contamination is the worst case scenario at this point. The best case scenario is that there is no cross contamination and this means our baby has a true mosaicism so she would have both normal and abnormal cells. The other problem is that with a mosaicism you will not know how the cells are effected- will it be the heart and the brain, the heart and her muscle tone, just the heart, more of her organs, etc. She can still have severe to profound characteristics with a mosaicism but it gives her the most hope at this point because every cell is not effected. I had bloodwork 6 days ago and it will take up to 4 weeks for the results.. so now we wait.. and wait.
I really liked the genetic group that we met as they were very thorough. Not only have I spoken with the geneticist locally, I have also done some research and contacted a rare chromosome organization in the United Kingdom called "Unique". We have learned that there is no one else in the world with this exact genetic make up. Our baby girl has a large duplication and the mosaicism makes it even more different. There are about five similar cases and the case studies on these were from 1978-1985. The one similarity about the five cases would be that each child had severe to profound cognitive impairments (so they said if our child had that...she may never walk or talk). She may have different facial features, she may develop water on her brain, her brain may not grow properly, her body may be asymmetrical, may have a smaller head, may have a smaller stature, shape of her ears may be different, may have a cleft palate, the chest bone may stick out some, etc. BUT.. they don't know for sure. They said two people with the same genetic code could be very different. If it is a true mosaicism then her characteristics could be very mild to very severe.. they just don't know. Ricky asked what the best case scenario could be and they said she would have the heart condition with very mild cognitive effects so she may live very normal. The worse would be the severe/ profound cognitive impairments, the above characteristics, the heart condition, and this may mean that she would not be a candidate for surgery. I was also told that the surgeons would decide if they felt the baby should be put through surgery or not. If she does not receive surgery, she will not live. Up until this point I was under the impression that Ricky and I made the ultimate decision if our baby would be put through heart surgery. So I cried at this appointment again.
So tomorrow I go for another ultrasound at the high risk doctor and I am officially 27 weeks pregnant today. I pray for good growth, no markers on the ultrasound except for the heart condition that has been confirmed, a strong heart beat and simply.. more hope! At tomorrows ultrasound it will be 3 weeks and 2 days since we have last seen her so I am VERY anxious/ nervous. I know that my stomach will be in knots. Also, we have had 3 ultrasounds total and we have never received a good profile picture because of the way she is always lying or she puts her hands in front of her face. They have seen her face but just not one good big profile view. As of 3 weeks ago her nose and lips looked great. They also said they would give me a 3d view if she would cooperate and get in a good position. :) So I pray for our first profile or face picture too.
I started this blog because I felt it would be the easiest way to inform everyone of our emotional roller coaster. We are living with hope but I do have good days/ bad days and good moments/ sad moments. It is just so heart breaking to hear that your child may not live. It is also hard to know that you have to help make a decision on whether or not you should put your baby through heart surgery. There will be guilt if we don't do the surgery because then she will not live- how can anyone decide that?? If you do the surgery but she ends up suffering, having a very bad quality of life, and struggling then you have guilt for what you have put your child through. This is one of the hardest things that I have been through. It has now been about 7 weeks and a few days since this journey started... so we now anxiously wait for each ultrasound, each heart rate check, and each phone call because who knows what you will hear from the person on the other end of the phone... and lastly we pray for no cross contamination to give our baby the most hope possible.
I am normally very private but this was too much for me to not share with others. It is way bigger than what I can handle on my own. I ask for prayers and well wishes for our baby. I ask that people are not afraid to ask me questions or talk to me about my pregnancy. I may cry but if I do, it is not your fault. It is good for me to talk to people. I just want people to treat me as normal as possible. I want to live as normal as possible because that helps me get through each day with hope and love.
We haven't bought our baby anything because I don't know what to buy. The incision sites on her chest will prevent her from wearing certain things that could irritate her skin or restrictions on lifting her arms up after surgery also prevent her from wearing certain things. What if we buy a lot and she doesn't make it? That would be too hard to face. What if she does make it and we don't have anything for her..then that causes stress? We believe in our hearts that she will make it but we also know there is a reality that she may not. It is very heart breaking.
There are so many unknowns, so many guesses, and such an unknown reality of what lies ahead. Our kids know that the baby is sick but they don't know how sick she is at this point. Blake told me today that he told his class that his Mommy is having a baby girl and she is sick. He also told me yesterday that when the baby is 5 that he will be 12. Makayla asked me one day if she can teach the baby how to ride her bike. It is very sweet but heart breaking on the inside too because of the what ifs- what if they can't teach her things, hold her, what if she is never 5... I worry about them and how they will respond no matter how this works out. Sarah knows the most but she is quiet so I make her talk as much as possible.
This effects not just us as this effects the rest of our family too because this is their niece, grandchild, cousin, etc. So we ask for prayers and peace in what will happen.. whatever the road will be. I will do my best to keep my faith, hope, and love. I will also try to be as strong as I can for my kids.. all 5 of them. Thanks for reading..
