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.

Test Results Are In

After a very tiring vacation in Dallas with my sister and nephew I am finally home and have some more news to give. Aside from the new head cold and ear aches, I finally got a call from Dr. G's office yesterday morning as we were preparing to go to the airport to fly home. They left a message about the results being in and they needed Skeet and I to have blood drawn. I decided that I didn't want to know until I could be with Skeet so I didn't call them back until this morning.

When I spoke to Dr. G he said that the genetic mutation they found looks like Thanatophoric Dysplasia, but it is something they have never seen before. The type of mutation they saw looks similar to the type of dysplasia that is lethal but they cannot tell us for sure if it is lethal or even if it is for sure Thanatophoric Dysplasia. They need Skeet and I to have blood drawn so that they can test to see if we are carriers or if it is a new mutation or a mistake. I guess that means more waiting for us. And I can still have hope that she may be okay.

She doesn't move much but I think that she is growing because my belly is getting a lot bigger. I do feel her move more when I am resting and she is still really low, but I enjoy every kick, punch and turn that I do feel. While in Dallas we went into Babies R Us to find gifts for friends and family that are expecting and I thought I would be okay but while looking for cards I lost it. I didn't realize how hard it would be to see all the clothing, bedding and toys and not be sad that I should be having fun and buying things to prepare for her arrival. I don't want to have a pessimistic attitude about it but I don't think that I can make all those purchases and have to look at them or take them back if things don't go the way we are hoping for. I may never have a shower for Avery or paint a nursery but I will keep hoping that it will happen someday soon. With only a little over 3 months left of this pregnancy I am starting to get scared about what will happen and if I will be able to handle it.

Thank you all again for your prayers, please continue to pray for Avery and I will keep you updated. God Bless.

A Strong Heart

I guess these posts are becoming a weekly thing now. I just wanted to give everyone an update on Avery. We traveled to Salt Lake this week for the fetal echo cardiogram at Primary Children's Hospital. We arrived Tuesday night and our appointment was scheduled for Wednesday morning. My parents were kind enough to drive us up and back and it was so nice to be able to spend that time with them. I figured that the FECG would be like an ultrasound and I was right, that is exactly what it was. They brought little Avery's heart up on the screen and started doing all the needed measurements. It took so long I think I was on that table for over an hour but it was nice to see our little girl bouncing around on the screen. After the tech had finished all of her pictures the doctor (I forget his name) came in to discuss the results with us. He said that they had noticed a small hole in Avery's heart but was not concerned because these holes, called VSDs, are very common and usually close up by the time the baby is born. He mentioned her chest size and said it looked extremely small. He seemed to imply that there was very little room for her lungs to develop. This, of course, wasn't new news to us so we took his news about her heart as good news and left Salt Lake with one less thing to worry about.

That brings us to today, Thrusday August 16th. I had an appointment with Dr. Sanders this morning to discuss my last appointment with Dr. G and the FECG. Skeet had to work today so my sister came with me to the appointment for moral support! I think she believes she owes me because I was there for most of hers and for Ayden's birth!

Can I just say how great I think Dr. Sanders is. If he could be my doctor for everything I would love that! He immediately makes you feel comfortable and he talks to you like you are a close friend and he really listens when you talk. So anyway back to the appointment, he wants Skeet and I to start thinking about how we want our birth plan to go if the baby's diagnosis is lethal. Depending on what we want will determine where Avery will be born. If we are comfortable with them not trying to resuscitate her and to just offer support after delivery then we can have Dr. Sanders deliver here in Cedar. We also have to decide if we would like to hold her and be with her until she passes or if it will be too hard. I haven't discussed any of this with Skeet yet because we don't know anything for sure and I told Dr. Sanders that. My sister asked him if the baby would suffer at all after birth and he said she would. She will go into respiratory distress then failure and then into cardiac arrest. He said as my doctor he wanted to be up front with me and that from everything they have seen he doesn't think the results of this test are going to be good and he wants me to prepare myself. In saying that, he wanted us to be able to leave his office today with some answers but after having his nurses call about 50 different places we found out that the tests were sent to California and it would be another week before we can find out the results. The 30 minutes that we waited to hear this were awful. My sister and I both crying and I was praying over and over again for some good news. Well to me... no news is good news. Once again I felt relief when he said it would be another week. I am just going to keep praying that the tests are negative for the lethal types they tested for and that little Avery will keep growing and surprise us all.
On a happier note I received a care package from a very good friend today and was reminded how blessed I am to have so many people out there praying for Avery. I have been crying from the second I opened this package and want my friend to know that it is the most beautiful, touching gift I have ever received and I have no idea how to thank you! I cannot wait to share it with Skeet and with Avery. Thank you from the bottom of my heart a million times.

So next week I am scheduled for a 3D ultrasound on Monday but may cancel if Skeet cannot make it. I cannot wait to see our little girls face. Then, I have to decide if I want the test results before my trip to Dallas next week or if I want to wait until after I get back. I can't decide if it would just be better to know or if it will be better to just wait until I have some time to be at home and just let it all sink in. I will see Dr. G again on Sept 5th to measure Avery again. I think they will continue the monthly ultrasounds no matter what the tests show.

I thank my Father in Heaven every day for my family, Skeet's family, and our friends and the great support they are to us. I know this experience would be so much more difficult if it weren't for them. Avery is truly blessed to have such wonderful people pulling for her. Thank you again to everyone for your prayers. Please continue to pray for her and I will let you know more when I know more. In the mean time... God Bless.

Baby Avery

I will start off with the good news. Much to our surprise they confirmed at our appointment today that our baby is a girl. I was so convinced for the last 22 weeks that we were having a boy. But the amnio results don't lie... it is for sure a girl. I think hearing that made everything harder. Our way of thinking has now changed. Its not just our baby anymore, it's our daughter. Reality is so much closer now.... but still so far away.

The drive to St. George was quiet, my stomach was turning and I prayed over and over the whole way. When we parked the car and started for the door to the clinic I almost turned back to the car. I didn't think I could handle it. I was so scared of what we were going to find out, or not find out. Before today I thought that them not being able to tell us anything would be worse than getting the definite lethal diagnosis. I was asked to sign a few papers before we could see the doctor and as I was reading them over my stomach dropped. There was a section on the patient information sheet for the diagnosis and underneath it said Thantophoric dysplasia. From all my research I knew this to be a lethal type of skeletal dysplasia. I thought for sure they had the results... why else would they list it as a diagnosis. It took all my strength not to break down right then and there.

We were taken into a very large dark room to start an ultrasound. This time I watched every measurement and the u/s tech talked us through everything she was doing. It was so strange this time around because there were so many things that I had read on the internet and seen in photos, that I was now looking for and my baby looked so different to me. I found myself looking for club feet, bowed femurs, frontal bossing amoung other things. Her legs are still very small and have not grown much, if at all. We still could not see her fingers because her hands were in fists. Her heartbeat is still stong at 165. The tech didn't tell us much and when I asked questions she told me I would need to ask the doctor.

Finally, the doctor came in and gave us the results of the amnio, all the chromosone testing came back normal. No down syndrome or any of the T syndromes. There was a problem with the additional testing that they do for dwarfism, the first test they tried failed so the lab had to start over. This means that we won't know what type of Skeletal Dysplasia our little girl has for another 3 weeks. That had been my fear but now I am somewhat relieved. I get to have some time with my little girl before I find out for sure! Anyway, Dr. G did his own measurements and did say that her chest has grown which is a really good sign. I asked about the heart and whether or not it looked like there is room for the lungs to develop and he said that it looked like the heart was not taking up the whole chest cavity. He sounded very optimistic about her chest size which made me breath a huge sigh of relief. However, he is still very concerned about the length of her long bones and we did notice bowing of the femur. He said her head looked good, it was right on as far as size and did not seem to have any frontal bossing and was shaped perfectly. He couldn't tell us much about her hands and feet because of her positioning and she wasn't moving much. I think she was napping.

So our appointment was okay but not great. I am not as much of a wreck as I thought I would be. I am still worried about getting the rest of the test results but I am feeling hopeful. Dr. G never pressured us one way or the other when it came to our options as was completely supportive of our decision not to terminate. He said because we have the time we don't have to be in too much of a hurry to get the results. He wants us to come back in a month to measure the baby again. He also recommended that we speak to the local neonatal specialist and find out what our options are for delivery. He is confident that we will be able to deliver either way in St. George which is alot better than having to go to Salt Lake. I am sad that Dr. Sanders will not be able to deliver our baby but we have to do what is best for her.

It's so weird to think that I have done everything to make sure that this baby is healthy. I eat my fruits and veggies, I drink my milk and water, and I take my prenatal vitamins. I have also been staying away from deli meat, sprouts, hot dogs and caffine (for the most part). But there is nothing I can do to prevent this, it makes me feel so out of control. All I can do is pray that God will not give us more trials than we can handle. I have to say that I would not be able to get through this if it weren't for my amazing husband. He is my rock and I feel so blessed to have him in my life.

I want to thank all of you for your comments and your prayers. Please continue to pray for Avery, we appreciate every prayer. God Bless!