Tuesday, July 27, 2010

Brady update - 7/28/2010

Yesterday was a good day. It's been nice to get back to work and focus on other things to keep me distracted. I also got a lot of good information from the T13 Yahoo Group I joined. The women in that group are so supportive and helpful. It really makes me feel less alone in all this, since this condition is so rare and there are so many unknowns. I found out that there are state and county programs that will provide assistance with getting care and medical equipment for Brady for anything not covered by insurance (although I also called our insurance company and it turns out that our insurance is really great and seems to cover everything I can think of at this point). There are also groups that support disabled children that can help out as well.

From reading people's stories on the T13 website, I've also learned about some of the various treatments and care that need to be done for these children, which is really helpful. Finding out about all the stuff we might have to do for Brady is making me realize that I really, really want to do this stuff and take care of him. It doesn't scare me, it motivates me. When I first found out about Brady's condition, I was almost afraid that he would live because I didn't know if I would be able to handle being a good mother to a child with special needs. But I don't feel that way anymore. Now, I really feel that Brady will make me a better mother and person, and maybe that's what God's plan is for Brady and us. Maybe Brady's purpose in life will be to show me and Paul and everyone who meets him that there is more to life than material things and work and all the stuff that just seems so insignificant now. I see now that this might be a blessing in disguise. God works in mysterious ways :)

I also spoke with Diane (Genetic counselor) yesterday and she is going to have a woman (Lisa) from UNC Center for Infant and Maternal Health call me this week. Lisa is going to be the one to help us figure out plans for burial as well as get into contact with UNC's NICU, pediatric cardiologist, and pediatric neurosurgeon, so that we can start planning for Brady's treatment when he is born. So I'm really excited to get that process started. I've also decided to transfer my OB care to UNC, so that I am seeing the doctors who will deliver Brady at UNC. I think getting into contact with these people will help me feel even more prepared for the situation, which will help me feel less anxious.

For some reason, I have this feeling that Brady will make it to birth. I don't know why, but that's my feeling right now. I had similar feelings earlier in the pregnancy about Brady's health - for some reason I just felt like something might be wrong. Unfortunately, that feeling was correct, but hopefully that means that this feeling is correct too :) On Friday, when we met with the perinatologist at UNC, I asked what could cause Brady to die in utero. She said she thinks it's usually caused by a failure of the placenta.

Basically, T13 can cause internal system issues (especially the nervous system) that can't be seen from an ultrasound, or even from tests done after birth. Because the placenta has the same genetic material as the baby, the placenta may fail to perform a critical function, causing the baby to die in the womb. The baby's physical abnormalities at this point shouldn't cause him to die, but the other problems that T13 could cause could lead to his death. But since we have no idea if this will happen, I am going to continue operating under the assumption that he is going to make it to birth and plan for his treatments at that time. Once he's born, it will still be hard to tell if he will make it or not, but I really feel that getting treatment for his defects will give him a much greater chance of surviving, so that's our focus for now. I pray every day that he will make it to that point.

Yesterday morning I got the full results from the amnio and it turns out that it is full T13, not translocation, so it's not hereditary, which is really good. So no real surprise there, but it's good to know the results.

I just love looking at the ultrasound pictures of Brady. Isn't he just so wonderful and cute?!? I look at them every day and that makes me feel closer to him. I wish I had an ultrasound machine, so I could look at him every day. I just can't wait until I can feel him. I'm almost 20 weeks, so hopefully I'll feel him soon, but since he's a couple of weeks behind in size, it might not happen for a few more weeks. But I've definitely gotten bigger in the past week (see pic below). I am consistently measuring 37" now and most of my shorts aren't fitting anymore! I have to unbutton the top button in order to not be in pain when sitting down :) So that's really great news! I love to see that Brady is growing.

Monday, July 26, 2010

Brady update - 7/26/2010

On Friday (7/23), we met with a Genetic counselor (Diane) to discuss the situation and what we need to do throughout the next 4 1/2 months. The meeting went really well. She was very open and supportive. She asked us what we wanted to get out of the conversation and what our goals are. We told her that we want help with making plans for Brady's life and death, so that we are prepared for everything.

She is going to put us in contact with UNC hospital's Chaplain, who takes care of newborn death situations. He can help us to figure out how to make plans for Brady's burial, in case he doesn't make it. It's definitely surreal trying to plan for the possibility of your baby's death, but we definitely need to do it, because I do not want to have to figure that stuff out while grieving for my son. That would be horrible.

Diane is also going to put us in contact with a pediatric cardiologist. The cardiologist will be able to do an ultrasound to look at Brady's heart and give us a more accurate diagnosis of the heart problems and what treatments may be necessary after birth. Diane also told us that UNC hospital has a Palliative Care program, which specializes in treatments of newborns with severe conditions, and specialists for newborn care.

Because UNC has all of these specialists and facilities, we are going to deliver at UNC instead of WakeMed. Diane is going to put us in contact with UNC's Labor and Delivery department, so that we can register there and start discussing our birth plan and treatment plans for Brady. We will also be able to meet with the various specialists who can help us once Brady is born. Diane said that I can continue to see my current OB office even if I decide to deliver at UNC, but I might decide to switch to the UNC OB office, so that I am meeting with who will deliver Brady.

After meeting with Diane, we decided to get another ultrasound, so that we could have a second opinion on Brady's problems. It was so great to see Brady again. I wish I could do an ultrasound every day. He was moving around a lot, just like last Monday, and he just looked so perfect to me. It's so hard to imagine that all these things are wrong with him. The technician showed us the blood flowing in the heart and showed us where the holes are. I asked her to look at Brady's brain to see if he had any indication of Holoprosencephaly, which is the condition in which the forebrain doesn't divide into 2 hemispheres. This defect seems to cause some of the most severe issues, so if Brady doesn't have this problem, I definitely have hope for him. The technician said that it doesn't look like Brady has this defect, which is great.

The technician also looked at Brady's spine and thought that the splaying of his spine started at the L4 vertebrae, which is really far down. The farther down the splaying starts, the better, because it causes less damage to the rest of the body. So that is good.

After the ultrasound, we met with a perinatologist (meternal-fetal medicine specialist) to discuss the findings. She said that Brady's heart issue is pretty bad; worse than what we originally thought. She drew us a picture of a normal heart and a picture of Brady's heart to show us what the issues were (see picture below). Basically, his Right Atrium is bigger than it should be and his Right Ventricle is smaller than it should be. Also, there is no wall between the Left and Right Ventricles, so blood is mixing between the 2 sides, which isn't good because the Right side takes care of un-oxygenated blood and the Left side takes care of oxygenated blood, so if they mix, then you have a bunch of semi-oxygenated blood.

The Right side is supposed to pump the un-oxygenated blood out through the pulmonary artery to the lungs to get oxygen and then the Left side is supposed to pump oxygenated blood out of the Aorta to the rest of the body to distribute the oxygen. So, if the Left and Right side have semi-oxygenated blood, then the body isn't getting the amount of oxygen it needs. She also said that it looks like the pulmonary artery and Aorta never split into 2 branches like it should, so it looks like there is just one branch coming out of the heart.

Because of these major heart issues, the doctor suggested that surgery may not be an option, and that we probably don't want to risk a c-section because that would impact future pregnancies for me. She said that we would really need to consider what the purpose of doing surgery would be. If the surgery would just be extending his life a few days or weeks, the pain and suffering Brady would go through may not outweigh the additional life he is given. However, we also don't know if we would be able to extend his life for significantly longer than that, such as several years.

Since very few T13 babies make it to a year, it's unlikely that Brady will make it, but what if he is one of the ones that can make it to a year? That is the dilemma we are faced with. Do we just spend time with him after he is born and let God take him when his body gives out, or do we try to fix his conditions with the hope that he will make it for a significant amount of time? We plan to meet with a lot of specialists over the next few months to help us make that decision, but the ultimate decision-maker will be Brady's condition after he is born.

After hearing how bad Brady's heart looks to a non-cardiologist, we kind of thought that if Brady's condition is really as bad as it sounds, it would make the situation easier. However, after a few hours of letting it all sink in, I got really upset because the only way I was able to deal with all of this last week was because of the hope I had that he might be able to make it. If we were starting to operate under the assumption that he probably wasn't going to make it, then I was going to start becoming very depressed.

After speaking with a friend and reading some stories that people from the T13 Yahoo Group sent me, I began to get more hope. Many people said that some of the issues that doctors found in their babies during an ultrasound either didn't exist or weren't as bad when their babies were born. One woman mentioned that babies without Holoprosencephaly seemed to have a much better chance of making it. And some said that their babies had several heart defects, but they didn't end up affecting the baby much or they were fixable. Also, babies have a way of defying the odds sometimes and fighting to make it.

Based on all of this, it really began to give me hope for Brady and made me want to fight for him again. So we are going to meet with as many specialists as we can over the next few months to get a better understanding of his condition and make preparations for surgeries once he is born. We are still going to wait to make a final decision on the surgeries until we see how he is doing after birth, but we want to make preparations ahead of time, in case we decide that he is strong enough to handle the surgeries. So I'm feeling a lot better about everything now and continue to feel hopeful every day that Brady is a fighter and will make it.

Because we feel that he is a fighter, we have decided that his middle name will be David, from the biblical story of David and Goliath. That David fought against the odds and never gave up, and that's how we feel Brady will be. Every day, I continue to write letters to Brady to tell him what we did that day, and Paul reads to Brady every night from one of his favorite childhood books. Story time is such a special time because Paul really gets to spend time with Brady.

This weekend, we had a great time at Virginia Tech. We went tubing on the New River on Saturday, and it was super relaxing and really great alone time. Brady really enjoyed the trip :) Below is a picture of his ultrasound from Friday. It's kind of blurry, but at least it's something. I can't wait to see him again.

Please continue to pray for us, that we make the right decisions that are best for Brady. And please pray that Brady will continue to be strong and will be able to make it to birth. We can't wait to meet him.

Thursday, July 22, 2010

7/22/2010 Update

First, I want to say thank you to everyone for the love and support that you have shown us. You truly are wonderful friends and family and your words of encouragement and support are really helping us to get through this tough time. We are really grateful to have such a great circle of friends and family. We want to continue to share our experiences and progress with you, so that you will know how Brady is doing. So I will continue to update this blog as we learn new things.

Yesterday and today were much better days than Monday and Tuesday. Yesterday, Paul stayed home from work because Tuesday was really hard for me being home alone, so I asked him to stay home with me yesterday. We spent the morning doing research on Trisomy 13 and we made an appointment with a genetic counselor and doctor at UNC who specialize in these kinds of diagnoses. We went to lunch and then ran some errands. It was really nice to get out of the house and just focus on normal, every day things. The rest of the day, we just spent time together doing normal things around the house and doing some additional research. I also bought a journal to write letters to Brady, so I wrote him a letter last night and read it to him. It was really therapeutic and helped me connect with him more. I've also been talking to him more, because I really want to focus on the fact that every day I have with him in the womb is a day that I'm spending with him, so I want to make the most of it.

This morning, I measured my stomach and I was almost 37". Since I have been hovering around 36" for the past 2 weeks, it was nice to see a change in the right direction. Hopefully this isn't temporary and I will continue to measure 37" and even more as the weeks go on. That will make me feel better about Brady's progress because it will indicate that he is growing.

Today, I spent a lot of time on the internet researching T13 and the abnormalities that Brady has. I joined a Yahoo group for people that have or have had children with T13, and I got some good information. A couple of people mentioned that there have been situations where the doctor misread the ultrasound and that the baby didn't end up having a defect that the doctor thought he saw on the ultrasound. But there have also been situations where the baby had defects that were not seen on the ultrasound. So even though the doctor saw certain abnormalities on Brady's ultrasound, it's possible that they weren't really there, or that they could fix themselves before Brady is born (or they could get worse). So there are a lot of unknowns still, and we really won't know the full situation until Brady is born.

One thing that I am concerned and baffled about is that Spina Bifida is not a common abnormality caused by T13, so I don't understand why he would have it. It may be that it just happened unrelated to T13. We may get a second ultrasound after tomorrow's consultation in order to get a second opinion. And of course, I would love to see Brady again. It was so awesome to see him on Monday, and I would just love to see him again :) Because things could change so much over the next several months, I definitely want to continue to get ultrasounds, maybe once a month. We'll have to see.

After reading all the stories on the internet (http://www.livingwithtrisomy13.org is a wonderful website with a lot of information and stories), my attitude has become much more hopeful and positive. I know that Brady might not make it to his birth, but I'm really just trying to focus on what we can do to help him if he does make it. We are also going to make plans to handle the situation if he doesn't make it, but I'm really trying to stay positive and hopeful. I know that God has a plan for him, but of course we don't know what that plan is, so we are just praying that we have as much time with Brady as possible and that Brady doesn't experience pain and suffering throughout his time with us (in the womb and after he's born). We are also praying that we are able to receive the best advice, care, and treatment from the professionals in the area. We are so grateful to be in an area with such great hospitals, doctors, and specialists, and we are hopeful that they will be supportive of our desires.

So, that is the update for now. I will give you all another update after our consultation tomorrow (we are going to Virginia Tech for the weekend, so I will try to post another entry sometime this weekend). Hopefully we will get a lot of good information during our consultation and possible ultrasound.

Love you all :)

Wednesday, July 21, 2010

Ultrasound Appointment - 7/19/2010

On 7/19, we had our mid-pregnancy ultrasound with a Maternal-Fetal Medicine specialist. The purpose of the ultrasound is to identify any abnormalities that may require additional testing. At the beginning of the ultrasound, everything seemed fine. The baby was very active (even though I haven't felt him yet) and the ultrasound technician was just doing a bunch of measurements. We got to see his hands, feet, arms, legs, head, heart, butt :), spine, everything. But as the ultrasound continued, the technician began focusing on some things that didn't look right.

We kept asking questions, like "Is everything measuring correctly?" and "How is everything looking?" The technician told us that Nugget is measuring only 16-17 weeks, even though I am 18 1/2 weeks along. He also said that Nugget has spina bifida, which means that part of the spine didn't fuse together all the way, so he took a lot of time looking at each vertebrae to see where the separation started and how bad it was. He then looked at the heart and noticed that Nugget has 2 holes in his heart. He also mentioned that Nugget has a 6th finger on one hand, 2 clefts in his lip, and a single umbilical artery. At the end, he looked at the sex and thought it looked like a girl, even though the parts weren't quite right. Of course, we couldn't believe all of these horrible things that were wrong with our baby, and we didn't understand what they meant.

After the ultrasound, we met with the doctor and he explained that each of these abnormalities in isolation would be curable with surgery, but because Nugget has so many, the doctor was almost positive it meant that he has Trisomy 13, which we had never heard of! Basically, Down Syndrome is the most common chromosome abnormality and it occurs on the 21st chromosome, and as you know, many children with Down Syndrome live good lives. Trisomy 13 is a chromosome abnormality that occurs on the 13th chromosome and is basically fatal. Only 5-10% of children with Trisomy 13 make it past a year of age. Most die in the womb, or within a few hours/days of birth. Some make it a few months.

Babies with Trisomy 13 can have all kinds of different symptoms. Some only have a few and some have many, like Nugget. Nugget has the worst severity of spina bifida - he has both spine and nerves exposed, which usually results in paralysis. Usually, surgery to close the spine is done within the first 24 hours of birth. Nugget also has 2 large holes in his heart, which can also usually be fixed with surgery, but not until at least 3 months of age. Even if all of these abnormalities could be fixed with surgery, Trisomy 13 causes more than just physical abnormalities. It also affects the nervous system and other internal systems, so some babies just stop breathing or their heart stops working, even if they don't have all of these abnormalities. And you can't tell how long the baby will live based on the number of abnormalities. There are just so many unknowns.

Of course we were devastated and in complete shock. He told us that we could get an amniocentesis to confirm the diagnosis and then make decisions from there. So we did the amnio that afternoon and on Tuesday we got the preliminary results that Nugget does have Trisomy 13 (T13) and he's a male, not a female (ambiguous genitalia is another symptom of T13). There are 3 different kinds of T13 - Mosaic (which means that only some of the cells have the additional chromosome), full (which means all cells have the additional chromosome), and translocation (which is full but means that it's caused by one of the parents carrying around a mismatched set of chromosomes, so any future babies by those parents have a much higher chance of having a chromosome abnormality). We won't know what type of T13 it is until the full results of the amnio, which we should get sometime next week, but the doctor is pretty certain that it's full T13 because of all the abnormalities.

Many people who receive this diagnosis decide to terminate the pregnancy, but we don't feel that it's our choice to decide when Nugget will die. So we have decided to continue with the pregnancy, so that God can decide when Nugget is supposed to die. But we do have other decisions to make, such as how do we want to handle his death and how do we care for him if he is born alive. We are still in the process of grieving and acceptance. It still seems so unreal that this is happening, and it is definitely the hardest thing we've ever had to go through.

We are seeking counseling through the UNC Center for Maternal and Infant Health to help us through this process because we really have no idea how to handle it and what to expect. Please pray for us and Nugget (we are going to name him Brady, but don't have a middle name yet) to help us get through this. I don't know when we will be able to talk to you about this, so please give us some time. We will continue to update this blog as we learn more information.

Tuesday, July 13, 2010

OB Appointment - 7/13/2010

I had my third OB appointment today and Nugget is doing well! The heartbeat is really strong, so things are looking good. I recorded the heartbeat and put a link to it below, so you can hear it too! It's so cool! The scratchy noise you hear at the end is the baby moving :)

My weight is 145 lbs, so I gained 4 lbs in the past 4 weeks, which is right on target, and thankfully my blood pressure is lower than last time (130/72). It's still a little high, but not nearly as high as before.

Unfortunately, I have a cough and some chest/sinus congestion right now, so that's annoying. Hopefully Sudafed and Robitussin will help get rid of it. Looks like I need to get even more sleep now.

Next Monday we find out the sex! I can't wait!!

Friday, July 9, 2010

Kristie's Bump Watch - 7/9/2010

Today I am 17 weeks along. Not much change lately in the bump size. I've been hovering around 36" for over a week now, so I only gained an inch in the past month. I'm really looking forward to seeing it grow, so I'm a little disappointed, but I'm hoping it will come soon.

Next Tuesday (7/13) I have my next OB appointment, where they will listen for the heartbeat and do the normal tests, like blood pressure, urine, etc. I don't know what they test for, but it doesn't really matter. As long as the results are good, I'm happy :) I'm excited to hear the heartbeat again. Every time I have an appointment, I get nervous about it for the entire week prior to the appointment, so I've been a little emotional this week, but nothing too bad. I've also been pretty tired. We've had plans every weekend for the past month, and it's really wearing me out, so I'm going to try to chill out the next couple of weekends.

On the following Monday (7/19), I have my mid-pregnancy ultrasound. My OB sends me to a specialist who can check for abnormalities. He will also be able to tell the sex, which I'm super excited about finding out!! I can't wait to get excited about what we are having. We really don't care at this point, but it will be nice to be able to refer to him/her as a he or a she, rather than he/she :) And then we can start planning the nursery decorations and register for all the gender-specific stuff. That will be so much fun!

So far, the second trimester seems to be going faster than the first, but it's still so slow! I'm ready for the baby now :)