Genetic Counsler

Hello everyone! I want to start by telling you that we had an ultrasound on Tuesday and got to see our daughters face in 3D. She is beautiful. She has a cute little nose and pouty lips like her cousin Jacie. Unfortunately we were unable to get any pictures printed out because there was something wrong with the ultrasound machine. Dr. Sanders had promised us a couple more ultrasounds so hopefully at the next one we will get some cute pictures. Nothing has really changed as far as her measurements go. She still has really short arms and legs and her chest is very small. She is developing fluid in her abdomen and around her heart but not enough to worry about just yet. My amniotic fluid levels are still normal and we could see Avery sucking and swallowing the fluid. Did I mention she is so cute?

Yesterday I went to see Dr. Sanders because I was scared I was going into pre-term labor. My back had started to hurt and I started to panic. He checked me and said that I had started to soften so they hooked me up to the monitor and watched for contractions for the next hour. Luckily there wasn't much activity as far as contractions go so I was not sent over to labor and delivery. I am not ready for Avery to come yet. She is way too small right now, she only weighs about a pound and a half. The good thing about being hooked up to the monitors was that I was able to feel Avery move more than she ever has! She was all over the place and really didn't like the monitors on her. It was fun to hear her heartbeat and feel her move so much!
So today I met with a Genetics Counselor in St. George. She had the results from the blood tests they did on Skeet and I. It turns out that the gene "mutation" they found on Avery's amnio is actually not a mutation at all. It is just something on the gene that was passed to her by her dad and has nothing to do with skeletal dysplasia. So now we can say, for sure, that she does not have Thanatophoric Dysplasia. But, they still believe that she does have some type of lethal skeletal dysplasia that will not allow her to live very long after birth. They can still tell from the ultrasounds and pictures of her chest and heart that her lungs have little to no room to develop properly. We are again, where we won't know what she has until after she is born. And, although they are almost certain it is lethal, they cannot tell us how long she will be with us so we could have hours or days.

They will have to do x-rays and possibly even an autopsy in order to give us a diagnosis. I don't really like the idea of an autopsy but I would like to know if this is something that may affect any future children, and that may be the only way they can tell us. She also told us that she is having a couple of doctors from Primary Children's in Salt Lake look at Avery's photos. If they both decide it looks lethal then we can carry on with our plans to deliver Avery here in Cedar. If they think for any reason that she has a chance at survival, we may have to deliver in St. George or even Salt Lake. So once again, I feel like everything is up in the air. I was finally feeling like I could just try to enjoy the next few weeks with my baby and not have to worry about any of the other details but I guess things have changed. Hopefully by the first of next week she will be able to tell us something more. I feel very fortunate that we were able to speak with her ( I can't remember her name). She was very understanding and kind and I finally felt like someone knew they were talking about my daughter, not just a non-viable fetus. She told me that we need to cherish our time with her and respect her life. And also that we need to try to make her time on earth as peaceful and full of love as we can.

So that is all the news I have today. I wish I could share the ultrasound photos with you but you will just have to take my word for it! I have another appointment with Dr. Sanders next week and will be hearing back from our Genetics Counselor so I will probably do another update then. Thank you again for your prayers and kind words, please continue to pray for this beautiful little girl.

Another day... another Dr. appointment

We saw Dr. Sanders this morning, and I guess I will start seeing him every two weeks now. I think this was the hardest appointment we have had so far and it is all because Dr. Sanders cried. I knew it was going to be a tough appointment because there were so many things that I wanted to say that I had been rehearsing in my head for weeks now.
Let me tell you again how great Dr. Sanders is. I didn't even have to say any of the things I had rehearsed, he said it all for me. He said that we would treat this like any other pregnancy other than he is planning on doing ultrasounds for me once a month until she is born. He also said that in most cases like ours they wouldn't monitor the baby during labor but he would like to so that he can give us the best chance of having her born alive so that we can have those precious moments with her. He warned us again that there is a good chance that she may not make it to birth, which is something I knew was a possibility. He cried when he said that he wishes he could take it all away and make everything turn out okay for us.
I know a lot of you will be disappointed to read this but my hope for her being okay is all but gone. It is so hard for me to keep that hope alive when everything is telling me that it isn't going to turn out the way I have been praying for. Now my main hope is that we will at least have a few moments with her before she returns home, and my prayers are that I will have the strength to cope with it all, and most of all that she will not suffer.
I appreciate all of your prayers and kind words and I really wish I could give everyone the good news that they have been hoping for. I am afraid that if I keep trying to believe that our prayers will be answered, but God has other plans, I will not be able to get through this hard time with my sanity. I love my little girl with all my heart and I will keep fighting for her but I know the time will come when I will need to let her go and I have to try to be strong enough to get through that time. Thank you again for everything.

Bad Days...

I have been having a really hard time since our last appointment. I think it is because I have realized that I am now in my 3rd trimester and my due date is quickly approaching. The fear and anxiety of what may come is starting to take over and I don't feel like I have the strength to keep pushing forward. I had a major meltdown the other night and think I scared Skeet pretty badly. It was my first since our finding out about Avery's condition and I have a feeling it won't be my last.
I can't stop crying and I truly think I am beginning to go into denial about it all. I keep catching myself thinking that there is no way God would do this to us. That everything will be fine and the doctors are all wrong. And then I cry when I have force myself back to reality. There is such a good chance that Avery does have TD and that her lungs will not be developed enough when she is born. As much as I want to believe 100% that she will be fine I can't help but let what I have seen and heard dim my hopes. Skeet isn't very optimistic as well and I think it frustrates him a little when I get my hopes up.
Avery is our daughter and that will never change. I have decided that at my appointment next week I am going to tell Dr. Sanders that I don't want to see Dr. G anymore. I don't think there is much he is willing to do for us anyway. I want this pregnancy to be treated as any other pregnancy, which means all the testing and avoiding things that are unhealthy for the baby. I am sick of people saying "Well at this point it doesn't really matter". She is my baby, I love her and she is entitled to every moment of life that she can sustain on her own. Plus, we need to be able to cherish every moment we get with her as well. I don't want anything to take away from that time with her. So that means, when she is born I want her delivery treated as any other delivery. I would like to have the pediatrician there and the respiratory specialist, just in case. And I would like them to clean her up and give her oxygen if necessary but then I would like to hold her and keep her with me. Unless of course the doctors are wrong and she looks like she will be okay then they can do whatever they need to to keep her healthy.
I do not want my baby to suffer at all but I know that there are some things we have no control over. I am leaving the rest of it up to God. I know that he has a plan for Avery, I believe in the power of prayer and I believe in miracles but I also believe that Avery has a purpose in this world and we cannot change that. As hard as it is, I need to just accept that I do not have any control and leave it in God's hands. I will continue to pray for my little daughter's health and strength and I hope that you all will as well. She hardly moves at all but when she does I know she is just reminding me that she is there and that she needs to be loved. There are so many out there who love her and I know that every moment of her life has been and will be filled with love. Thank you for letting me vent... I do feel better now.

Not much to report

We had an appointment yesterday with Dr. G and unfortunately I don't have much to report. He explained to us again that the gene mutation they found looked similar to Thanatophoric Dysplasia but they had never seen anything like it before. They took blood from both Skeet and I and were just going to send us home. I had gone to the appointment thinking I would be able to see my little girl so I pushed a little and Dr. G finally agreed to do an ultrasound. He did mention that if it looked like Skeet or I were carriers of this gene mutation that they would probably stop doing any ultrasounds and would just "leave us alone". He also said that although he can't say 100% that it is lethal, he thinks that it is. I have to say that I am a little bit upset by his bad attitude the whole time we were there.

Luckily the tech that did our ultrasound was very nice and I felt comfortable asking her some questions. Avery was, once again, being very shy and was curled up in a ball in my pelvis. We got some great shots of the top of her head but couldn't see much more than that. We did see an arm and from the measurements she took her humerus was only measuring 14 weeks ( I am almost 27 weeks) which means it hasn't grown at all. This made both Skeet and I a little sad. I have been praying so hard that she would grow, even if it is just a little bit. Measurements of her chest and abdomen were also taken but from the position she was in I don't know how accurate they really were. Her heartbeat was at 152 when the tech checked and to me it looked like her chest had some room for lungs to develop, but maybe I just saw what I wanted to see. We did get to see her face and her cute little nose and lips for just a second, but like I said the position she was in made it almost impossible to see anything. One thing I was curious about was my fluid levels and the tech assured me after measuring them that they are normal.

After she was done the tech went to get Dr. G to see if he wanted to do any additional measurements. He finally came in and I could tell he didn't really want to be there. He zoomed in on her skull and he and the tech talked about seeing something in her brain, but I didn't even want to ask. He then mentioned that her head looked like it was abnormally shaped. When he looked at Avery's heart it looked to be beating extremely slow... even slower than mine. He said "it looks like we are losing her" without any emotion at all. I couldn't understand how her heart could go from beating just fine to almost not at all in just minutes. He moved the wand around and her heart looked fine again. So he blamed the software on the ultrasound machine! I was furious!!! After everything we have been through, he suggests that we are losing her right then and there without an ounce of emotion, then takes it back like it is nothing. I wanted to scream at him... I still want to scream at him. I wasn't ready to lose her yet and I was really starting to panic. So anyway, he ended the appointment saying that we will just wait and see what our blood test shows before doing anything else.

So we play the waiting game again. I have a feeling, and have somewhat accepted, that we won't know sweet Avery's fate until she is born. Skeet and I discussed it on the way home and have decided that we will stick with Dr. Sanders and have Avery in Cedar city. I truly believe that if she is going to make it, it won't matter which hospital she is at. And, if she doesn't make it, I would much rather have her close to our families so that anyone that wants to meet her can be there. I feel deep down in my gut that this is the right decision, and am relieved that Dr. Sanders will be delivering her as we had originally planned. We are very comfortable with him and know that he will be sensitive to our situation and supportive of our decisions. I will see him next week for a prenatal check up and will discuss a birth plan with him. Hopefully he will attempt another 3D ultrasound, I plan on standing on my head before the appointment.

Again, I want to thank everyone for their kind words, thoughts and prayers. Skeet and I have been blessed with amazing families and anytime I start to lose hope I know I can turn to them. They are constantly praying for us and truly believe in the power of prayer. They have been keeping me strong and I want them to know how much I appreciate all of them. I feel Avery move on a daily basis and I cherish every little movement I feel. I want you all to know that whatever happens, we will always remember your kindness and will be forever thankful for it.