Thursday, March 24, 2011

Tristan sucking his fingers

25 Weeks/ March 23

We had another regular doctor appointment today. Weight gain looked good. This was a fairly quick and short appointment. When Dr. Lake went to check for the heartbeat Tristan kicked him : ) I love when he moves, it lets me know he is still ok! We have another appointment next week just like this one and then in two weeks they are going to do another ultrasound and start monitoring everything.
We finally found out yesterday that insurance will cover the test for OI but they had problems with the test for Camptomelic so we decided to only do the OI test. It really seems more likely to be OI but I still do not see why they would think type 2.

24 Weeks/ March 16

We had a doctor appointment with our regular OB today. Finally we got to see Dr. Lake again. He immediately came in and gave me a hug. Thankfully I gained the weight I lost back and then some. Heartbeat was good. Dr. Lake said he wants to start seeing me once a week from here on out and the later twice a week. He asked if we had heard anything about the tests and we said no. He told us that we were going to do a c-section. He explained that we don't know what is going to happen so he wanted to know how aggressive want to be as far as trying to save the baby and we told him that we wanted to do what is best for the baby. Then he said we could do another ultrasound today.

After talking to everyone and doing my own research I knew the things I wanted to see and look for. The UT was great. She let me ask all the questions I wanted and looked at everything I wanted to see. This time his legs had grown a little but not much they now measured 18 weeks (last time the measured 17). His head, chest, and abdomen were measuring normally which is very good ( one of my main concerns). I asked her if she could see if he was opening and shutting his hands since we had been told of clinched fists. He was opening and shutting them. We could see all of his fingers and he was also sucking on them. He was drinking the fluid which is good (that was a bad sign for Camptomelic). She didn't see any built up fluid around his head or anything. We couldn't tell if his eyes were far apart or not because of the way he was laying. The UT said possibly they could be slightly but she wasn't sure. She let me see him in 4D. He looked absoultely perfect to me!! He has the cutest nose!!

We go back to the specialist at 28 weeks and they should do a 3D to check for the facial features then but I was very happy with what we saw today!!

March 11

Today was Devin's 26th Birthday. Mom watched Destiny so we could go to the movies. Tristan was kicking and moving all throughout the movie and then later that night while we were laying in bed he was moving like crazy. Devin could feel it all. He was moving and kicking very strongly for atleast an hour!!

March 10

I found a support group for moms who children have OI. Everyone has been really helpful and supportive. A lot of them were told the same thing I was and now have children who are fine and even walking. Most of which no one had any history of OI  and their babys were not type 2. Some actually have kids who are type two and are now teenagers. Reading everyone else's stories really helps. It gives me hope! I guess my doctors just do not know much about OI at all. I'm tired of hearing that there is no hope and that he will not make it. He is always moving and kicking and I refuse to think he is not going to be ok!

23 weeks/ March 9

We went to meet with a genetic counselor at Emory today. I was so nervous and scared and really did not want to sit and listen to anymore doctors telling us that there was no way our baby would survive.
Carrie Crain was the counselor. She basically told us what Dr. Patterson had seen on the ultrasound. The long bones in the arms and legs were 2-3 weeks behind, the possible fracture, she said the bone mineralization looked good, and the chest was measuring normal. She also said that Dr. Patterson thought that there may be fluid built up around the forehead like the brain and that his eyes may be wide-set. She said possible face deformities. She said that there are two possible diagnoses OI type 2 or Camptomelic dysplasia. She said neither fit perfectly. Basically she said either diagnosis would be fatal. She again asked if we would want to terminate the pregnancy because we only had until next week. We told her NO. She told us of the possible tests they could still do for both. Finally Dr. Ferhoff came in to talk with us. It seemed as though he had never seen the ultrasound either and was only going off of what Dr Patterson said. He never mentioned it possibly being Camptomelic but he did talk to us about OI. He said at this point we dont know what will happen. He said the baby could pass away in the womb, shortly after birth, or he could live but possibly with a lot of problems, or he could be relatively fine. He said it was the full spectrum at this point. He said that the baby's fist were clinched which makes them think something neurologically could be wrong (this confused me because they concluded his fist are always clinched from 1 ultrasound!). He suggested that I would want to do a c-section and then after the baby is born to send him to Scottish Rite so that they could be involved with his care as well. Atleast he wasn't completely negative with us. When I had asked Carrie about the C-section she said no they wouldn't want to put extra strain on me when they didn't expect the baby not to make it anyway.
I was somewhat disappointed in the appointment. I thought we were going there to get Emory's opinion and not to just hear everything Dr. Patterson thought over again. Also from doing my own research I felt like I knew more about OI than the Carrie girl who didn't even know that Type 1 was the least severe. We were told there is no possibility for it to be any type other than 2 basically which makes no sense to me still!

22 Weeks/March 2nd

I was scared of what we would find out going to the doctor today. We were seeing a Dr. Harrison (someone I had never met). When they checked my weight I had lost 2 lbs in one week! The doctor came in asked if we had heard anything and the left to go call Dr Patterson. He came back and said that she sent the test to California or Oregon or something and that she was waiting to hear back. We had some questions to ask him but he didn't know much. He was very insensitive to what we were going through. He basically said that Dr Patterson thinks it is Type 2 and that the baby is not going to make it. He said Dr Patterson said we could call her today because she would be in the office and could talk to us. Then he told me that he would feel better if I got the shot. He left the room. I sat there devastated and waiting but then decided against the shot because I just wanted to get out of there. After a week I figured there was really no point in the shot now.

When we got home Devin called Dr. Patterson and I sat beside him and listened. She said she sent the amnio to California to test the chromosomes which came back normal then to Oregon to test the genes and was still waiting back to hear from them. We asked if there was anything else it could be and she said Yes. She put us on hold because the Lab in Oregon was calling. He said nothing "jumped out at him". Devin was asked what part of Africa he was from because that might give them some idea of where to look. Then she told us she was setting up an appointment for us to meet with a genetic counselor at Emory  on Wednesday. She said she sent ultrasounds to several doctors all over the country to see what they thought. She wanted us to have as much information as possible because if we wanted to terminate the pregnancy we were running out of time. However, we ofcourse had already talked and had decided that we were definately not going to end the pregnancy. He is our baby. He is always moving and kicking. There was just no way. Plus the more I read the more I wonder just how much this doctor even knows about OI.

Waiting....

The 2 days following our horrible doctors appointment we stay fairly busy. We were moving to a new house. I was still completely horrified and upset. I would start crying at random times and even wake up crying. It makes no sense! I started looking on the internet for more information. I learned that there are different types of OI and that type II is usually fatal either in the prenatal stage or shortly after birth due to respiratory problems. I hoped and prayed it would be a less severe type.

Waiting and not knowing was driving me crazy. Also I remembered that when you get an amnio you should have a Rhogam shot (I'm Rh- and Devin is +) incase my blood mixes with the babys. Finally we decided to call the doctors office on Monday (it had been 5 days and nothing). Devin called and asked if the results were back and they said No he also asked about the Rhogam shot and they were like didn't she get one? Then they got off the phone fairly quickly saying they would have the doctor call me back. Finally I just called my regular OB and told them what was going on and they told me to come in the next day for the shot and they would see if they could find something out.

21 weeks/ Feb. 23

At 17 weeks we were able to find out that we are having a baby boy! Tristan started moving and kicking before 20 weeks. So when we went in for our 21 week appointment we were excited to get to see him on the ultrasound. Everything seemed very routine at first. Tristan was very low which I already knew from all the pressure. The U.T. was having a hard time getting to him because of this. She didn't talk much or explain to us what she was looking at. She quickly gave us two pictures and  said she was going to see if the doctor wanted to come take a look. I thought this was a little weird. The doctor came in looked and then sat down in a chair. He finally said that there was no easy way to say this but the long bones in the babys arms and legs were very short and that he thinks he saw a mass in the babys brain. He said if it were just the arms and legs he would think dwarfism but because of the mass he is worried. He told us he wanted to send us to a maternal fetal specialist. We walked outside to have the nurses call to make the appointment and the doctor hugged me and told me that he hopes he is wrong. I couldn't believe what I was hearing. I immediately started crying so Devin and I sat in the ultrasound room while they made the appointment.

We drove to Demorest about 30 mins away from Gainesville. It was a long ride and I cried the whole time. We went in to another ultrasound room. They asked basically what was seen on the ultrasound and why we were there. Then I laid on the table for about an hour while the U.T. looked and took measurements of everything. She never said anything as far as what she was seeing or anything I simply had to lay and wait. She did however comment on how much he moves. She was not able to get a clear picture of his face/eyes. The doctor came in and was given about 50 of the ultrasound pictures which she took to her office. The UT told her to pay attention to the upper and lower extremities so I asked if that meant that she didn't see a mass and she said "No that's not what it means, it just means those are areas I want her to pay close attention to". After the doctor came back she pointed out some things on the ultrasound. The long bones in the arms and legs were short and not where they should be and she thought there was possibly a fracture in the right femur. She said she did not see a mass but possibly a little extra fluid around the brain. She told us that she thought our baby had something called Osteogenesis Imperfecta or Brittle Bone disease. She said that she strongly suggests that we do an amnio so that we will know for sure. We both wanted to know that if it was this if he would be ok and she really wouldn't answer us but basically implied No. She left the room for a few minutes for us to decide about the amnio. We were both very upset and didn't know what to do. We just wanted to know that he was going to be ok so we decided to go ahead with the amnio because the quicker we did the quicker we find out whats wrong. The doctor and UT came back and immediately got out everything for the amnio and we signed the forms. We were told the results would be expedited and we would find out in 3 days. I was sent home to rest in bed.

Starting this blog.

As everyone knows we are expecting our baby boy Tristan in July. I have decided to start this blog to keep our friends and family up to date on our doctors appointments and Tristan's progress. Also I've heard its therapeutic to be able to write and talk about everything so here goes!