My mom and I went to the doctor for my weekly visit this morning. Elam still has a healthy heartbeat (about 160 bpm). We got results from my blood work and a karyotype (picture of Elam's chromosomes). We learned more about my blood clotting disorders. I'm still confused about what they are exactly-- I'll have to do more research. One is called PAI-1, which causes me to clot more readily and/or not break down blood clots as quickly as I should. I also have a MTHFR mutation (a type of thrombophilia?), which interferes with my ability to metabolize folic acid. It can lead to a greater risk for heart disease and blood clots. Because I don't metabolize folic acid efficiently, it can lead to birth defects in future pregnancies. The doctor still doesn't think that these will be a problem when I'm not pregnant. It's nice to find these problems now so that I can help prevent them from causing birth defects or miscarriage next time I get pregnant.
We also found out a couple more things about Elam's birth defects. The hole in his heart is in the septum between his ventricles. He also has some calcification in his heart muscle. He seems to have a Dandy-Walker malformation (a defect in his brain). It is also possible that he has webbing between his fingers because he would not open up his hands on the ultrasound. Webbing is typical for triploid babies. I have another ultrasound on December 18, if he makes it that long, to "evaluate viability and growth."
We're still praying for our little one's healing and we're enjoying listening to his heartbeat every day.
Monday, November 24, 2008
Saturday, November 22, 2008
Fetal Doppler
We ordered a fetal doppler online on Thursday and it just came in. It's a little ultrasound machine that lets us listen to Elam's heartbeat and measure his heart rate any time we want. It will be very nice to be able to check it every day. It also allows us to record his heartbeat on the computer. It will also be nice to have for future pregnancies.
So we listened to his heartbeat today and it's still going at a healthy rate! Hopefully we'll record it soon and post it here.
So we listened to his heartbeat today and it's still going at a healthy rate! Hopefully we'll record it soon and post it here.
Friday, November 21, 2008
Two-Week Update
We have learned a lot about our baby and his disorder over the last two weeks. I am going to the doctor every Monday to listen for the heartbeat and talk to my doctor. She is also monitoring my blood pressure and weight due to an increased risk of toxemia because I'm carrying a triploid baby. So far he has had a healthy heartbeat at each visit.
We decided to name our little one Elam Reuben Joseph. Elam means "hidden", Reuben means "behold, a son", and Joseph means "He will add". I have enjoyed being able to call Elam by his name. After we had a few days to process the news of his disorder, we decided to try to enjoy our son while we still have him. No matter what happens, he is still a person and he'll always be our little boy. So we want to celebrate him. :)
We had another "follow-up" ultrasound yesterday at my request. He has grown about 2 weeks' worth in the last 2 weeks, so he was easier to see. We enjoyed getting to see him again. We got to see him move around a bit and hiccup... very cute! You can see parts of the ultrasound on youtube at this address: http://www.youtube.com/watch?v=cV0ZbMFhqK8
During the ultrasound, they discovered that Elam does have several birth defects, which are common to babies with chromosomal disorders. He has a very small chin, a hole in his heart, a cyst on the back of his brain, and he's missing one of the bones in each of his pinky fingers. None of these were surprising to hear.
We did hear something else that was surprising, however. They got some of my blood work back and it showed that I have two blood clotting disorders. While these disorders have not likely been the cause of Elam's birth defects, they can cause birth defects and pregnancy loss in future pregnancies. They told us that taking a baby aspirin and extra folic acid every day should prevent those clotting disorders from affecting my future pregnancies or my own health.
As far as how we have been emotionally over the last two weeks, we are doing well. We are heartbroken, but God has given us so much peace. It's so comforting to know He's trustworthy. Throughout this pregnancy, God has taught me so much about trusting Him to be in control, and I'm so thankful for that. It's so freeing to know that He's in control and He can be trusted with every detail of our lives.
We want to thank everyone for their support, hugs, food, time, and encouraging words. We especially want to thank everyone for their prayers, and for spreading the news to others so they could also pray. God has been taking such good care of us through all the people around us and we are so grateful for that.
One last thing. We are comfortable with talking about everything that's going on. I know that in the past, I would never have known what to say to someone who was losing their baby, and I would have probably just avoided talking to them to prevent upsetting them. So I just wanted to say that there's no pressure. We're fine to talk about what's going on. I'd actually prefer talking about it rather than avoiding the subject. But still, there's no pressure either way.
Again, thanks for everything! I'm going to try to keep updating this whenever we learn anything new. Please continue to pray for our family, and especially our little Elam. We love you all!
We decided to name our little one Elam Reuben Joseph. Elam means "hidden", Reuben means "behold, a son", and Joseph means "He will add". I have enjoyed being able to call Elam by his name. After we had a few days to process the news of his disorder, we decided to try to enjoy our son while we still have him. No matter what happens, he is still a person and he'll always be our little boy. So we want to celebrate him. :)
We had another "follow-up" ultrasound yesterday at my request. He has grown about 2 weeks' worth in the last 2 weeks, so he was easier to see. We enjoyed getting to see him again. We got to see him move around a bit and hiccup... very cute! You can see parts of the ultrasound on youtube at this address: http://www.youtube.com/watch?v=cV0ZbMFhqK8
During the ultrasound, they discovered that Elam does have several birth defects, which are common to babies with chromosomal disorders. He has a very small chin, a hole in his heart, a cyst on the back of his brain, and he's missing one of the bones in each of his pinky fingers. None of these were surprising to hear.
We did hear something else that was surprising, however. They got some of my blood work back and it showed that I have two blood clotting disorders. While these disorders have not likely been the cause of Elam's birth defects, they can cause birth defects and pregnancy loss in future pregnancies. They told us that taking a baby aspirin and extra folic acid every day should prevent those clotting disorders from affecting my future pregnancies or my own health.
As far as how we have been emotionally over the last two weeks, we are doing well. We are heartbroken, but God has given us so much peace. It's so comforting to know He's trustworthy. Throughout this pregnancy, God has taught me so much about trusting Him to be in control, and I'm so thankful for that. It's so freeing to know that He's in control and He can be trusted with every detail of our lives.
We want to thank everyone for their support, hugs, food, time, and encouraging words. We especially want to thank everyone for their prayers, and for spreading the news to others so they could also pray. God has been taking such good care of us through all the people around us and we are so grateful for that.
One last thing. We are comfortable with talking about everything that's going on. I know that in the past, I would never have known what to say to someone who was losing their baby, and I would have probably just avoided talking to them to prevent upsetting them. So I just wanted to say that there's no pressure. We're fine to talk about what's going on. I'd actually prefer talking about it rather than avoiding the subject. But still, there's no pressure either way.
Again, thanks for everything! I'm going to try to keep updating this whenever we learn anything new. Please continue to pray for our family, and especially our little Elam. We love you all!
20-Week Ultrasound
For those who haven't heard, or haven't heard the whole story...
We went in, very excited, for our 20 week ultrasound on November 6, eager to find out the gender of our baby. We've been very excited about our growing little one and we had very much enjoyed our previous ultrasounds.
When the ultrasound began, the sonographer told us that the baby was curled up in a little ball deep down in my pelvis, so it would be hard to see anything. She took the few measurements she could and told us that the baby was measuring too small, about 3-4 weeks behind. She got the doctor and they looked at our previous ultrasounds to see if it was just that my due date was wrong. The other ultrasounds appeared to measure correctly for my due date, so they told us that it was likely that the baby had a chromosome disorder.
They suggested that we do an amniocentesis and a lot of bloodwork to determine what was wrong. At first, we did not want the amnio performed. It was a risky procedure-- about a 1 in 500 chance that it could cause a miscarriage. As they were taking my blood, we decided that we would go ahead and have the procedure done because it seemed that we would need to do it eventually to find out what was wrong. So we had it done. We went home very upset, hoping that nothing was really wrong with our little one.
The next day we got some of the first results from the amnio. They called us in to see the doctor. She told us that the baby had 69, XXY (triploidy), which means that the baby has 3 of every chromosome, instead of two. The most likely cause of this disorder is that the egg was fertilized by two sperm instead of one. She informed us that this is a lethal disorder and that we had the option to terminate or wait for his heart to stop. When his heart stopped on its own, my body may recognize it and go into pre-term labor. If my body didn't recognize it right away, we would discover that his heart had stopped at a doctor visit and would induce labor. It sounds more likely that my body will not quickly recognize that his heart has stopped, and I will most likely have to be induced.
The labor would be just like the labor with a full-term baby, and it will likely be very long because my uterus is not ready for this process. Most triploid babies are miscarried early in the first trimester. Our doctor has never actually seen one that has carried this far. She told us that she would be surprised if he lived to 24 weeks. She also informed us that this is a random event, and it doesn't mean that it will happen again in future pregnancies.
Of course, we are heartbroken over the news of our little one's disorder. We have been praying that God will fully heal our baby, but we want His will to be done either way. The elders at our church came and prayed over our family the weekend we heard the news.
We went in, very excited, for our 20 week ultrasound on November 6, eager to find out the gender of our baby. We've been very excited about our growing little one and we had very much enjoyed our previous ultrasounds.
When the ultrasound began, the sonographer told us that the baby was curled up in a little ball deep down in my pelvis, so it would be hard to see anything. She took the few measurements she could and told us that the baby was measuring too small, about 3-4 weeks behind. She got the doctor and they looked at our previous ultrasounds to see if it was just that my due date was wrong. The other ultrasounds appeared to measure correctly for my due date, so they told us that it was likely that the baby had a chromosome disorder.
They suggested that we do an amniocentesis and a lot of bloodwork to determine what was wrong. At first, we did not want the amnio performed. It was a risky procedure-- about a 1 in 500 chance that it could cause a miscarriage. As they were taking my blood, we decided that we would go ahead and have the procedure done because it seemed that we would need to do it eventually to find out what was wrong. So we had it done. We went home very upset, hoping that nothing was really wrong with our little one.
The next day we got some of the first results from the amnio. They called us in to see the doctor. She told us that the baby had 69, XXY (triploidy), which means that the baby has 3 of every chromosome, instead of two. The most likely cause of this disorder is that the egg was fertilized by two sperm instead of one. She informed us that this is a lethal disorder and that we had the option to terminate or wait for his heart to stop. When his heart stopped on its own, my body may recognize it and go into pre-term labor. If my body didn't recognize it right away, we would discover that his heart had stopped at a doctor visit and would induce labor. It sounds more likely that my body will not quickly recognize that his heart has stopped, and I will most likely have to be induced.
The labor would be just like the labor with a full-term baby, and it will likely be very long because my uterus is not ready for this process. Most triploid babies are miscarried early in the first trimester. Our doctor has never actually seen one that has carried this far. She told us that she would be surprised if he lived to 24 weeks. She also informed us that this is a random event, and it doesn't mean that it will happen again in future pregnancies.
Of course, we are heartbroken over the news of our little one's disorder. We have been praying that God will fully heal our baby, but we want His will to be done either way. The elders at our church came and prayed over our family the weekend we heard the news.
Subscribe to:
Posts (Atom)
