Update

I know I just posted earlier today but I received a phone call from our genetics counselor this afternoon and wanted to give you all an update. She finally heard back from the specialist that was taking a look at Avery's x-rays and he said that Avery is still a mystery. He can tell for sure that she had a form of skeletal dysplasia but it must be a very rare type. He is sending her pictures to 3 other specialists and hopes to have a better answer for us by next week. The problem with it being so rare is that he doesn't think there are tests for it. Meaning they will not be able to test us to see what type of carriers we are, if any, and they will not be able to test our embryos. I had a feeling that this would be our answer but it still came as a blow. Especially when I was told that there is a possibility that we could have a one in four chance of it happening again. I haven't been able to really digest all that I have been told so I am a little numb to it all at the moment. All I know is that I love my little girl and if we are meant to have another child and he/she is like his/her sister I will still love them just as much, I just don't know if I am strong enough to go through it all again.

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.