We received the preliminary results of the latest amniocentesis checking for any problems with Chromosome 22. The news is good, there is no sign of deletion or any genetic problems.
We are very relieved and feel good having that knowledge. Our baby's heart problem is an isolated issue and now we can focus our prayers and attention on that.
We are believing God will give us a total miracle and if that's not His will, then we'll take a hefty baby boy ready to go through some surgery.
The support we've received has been strongly felt and we are forever grateful. We have a long road ahead but are glad to be able to get past this hurdle and focus on the next.
We know God is with us and are confident His plan for our family is a good one.
Friday, December 15, 2006
Thursday, December 14, 2006
Amnio #2
Owie, the second amnio was significantly more painful than the first one. Since the baby is bigger (weighing in at 2 whole pounds now!) and there is less space inside the uterus, it was harder for the doctor to find a pocket of fluid that was somewhat safe to poke a needle into. The angle of the needle was weird and had to pass through lots of tissue, and apparently that equals pain. My belly hurt for most of the evening last night, but I woke up this morning feeling completely fine, so no harm done!
Thankfully, this test for the 22q11 chromosome deletion can be done in DAYS, not weeks. THANK GOD. I will sit anxiously by my phone all day today and tomorrow waiting to hear some (good) news. I should probably warn my boss and tell her if she sees me convulsing on the floor in the next couple days that she should call Dan to come cart me away.
My friend, Jodi, from high school shared a very sad story with me today. A good friend of hers, Heather, has recently had to deal with a tragic loss. Her husband died a few weeks ago in a small plane crash, leaving her and her four young children, and a baby due in January, behind. :( Please pray for some peace for her and her kids. I CANNOT imagine dealing with such a tragic loss. This got me thinking about all the things that I am sooo very grateful for. Dealing with our baby's health problems is so minute in the grand scheme of things. I don't mean to diminish the struggles that Baby will have to endure, but this is something we can and will deal with.
We have a name! We've had some inquiries as to what it is, but we aren't going to share till birth. We all know practically everything else about this baby...we have to keep something a secret! I'll give you a hint. It's NOT Horatio and it DOESN'T start with "the."
Ok, ok...I (reluctantly) promised some people that I'd post some belly pics...these are from last weekend, at 6.5 months.
Thankfully, this test for the 22q11 chromosome deletion can be done in DAYS, not weeks. THANK GOD. I will sit anxiously by my phone all day today and tomorrow waiting to hear some (good) news. I should probably warn my boss and tell her if she sees me convulsing on the floor in the next couple days that she should call Dan to come cart me away.
My friend, Jodi, from high school shared a very sad story with me today. A good friend of hers, Heather, has recently had to deal with a tragic loss. Her husband died a few weeks ago in a small plane crash, leaving her and her four young children, and a baby due in January, behind. :( Please pray for some peace for her and her kids. I CANNOT imagine dealing with such a tragic loss. This got me thinking about all the things that I am sooo very grateful for. Dealing with our baby's health problems is so minute in the grand scheme of things. I don't mean to diminish the struggles that Baby will have to endure, but this is something we can and will deal with.
We have a name! We've had some inquiries as to what it is, but we aren't going to share till birth. We all know practically everything else about this baby...we have to keep something a secret! I'll give you a hint. It's NOT Horatio and it DOESN'T start with "the."
Ok, ok...I (reluctantly) promised some people that I'd post some belly pics...these are from last weekend, at 6.5 months.
Tuesday, December 12, 2006
More?? Really?
As if our weary brains haven't been littered with enough worry....
I was looking online at some stories about babies/children who are coping with Tetralogy of Fallot and noticed that a lot of the stories that involved both TOF and Pulmonary Atresia (what our baby has) also involved DiGeorge Syndrome. It is a chromosomal anomaly that involves the partial deletion of the 22nd chromosome, which can affect the baby's immune system, facial features, learning abilities and more... Hmmmmm....so I did some research and found that the odds of our babe having this syndrome are about 40% or so. I called our genetic counselor to see if my amnio had by chance tested for this syndrome. Her response: "We didn't test for it, but we should have." UUGGGgggg!! At this point our options are to wait till birth to find out if the baby has this anomaly, or do another amniocentesis to find out ahead of time. I'm not big on worrying for long periods of time (although I should be used to this by now), so I am opting to do another amnio on Wednesday. Another long needle in the belly, another 10-day wait, another problem to worry about for our baby...
This is when I have my meltdown.
I thought we had rounded a corner and that we were at least done with the worrying portion of the pregnancy, but alas...there always seems to be more these days. I'm trying so hard to stay positive amidst all of this and find peace and strength to get through it. Thankfully my wonderful husband helps tremendously. Without him, you'd all be visiting me in the mental wing of the hospital instead of the maternity ward.
Our baby will have enough to overcome once he enters this world. Please pray that the heart issues are ALL he is going to have to deal with.
p.s. I hate the internet.
I was looking online at some stories about babies/children who are coping with Tetralogy of Fallot and noticed that a lot of the stories that involved both TOF and Pulmonary Atresia (what our baby has) also involved DiGeorge Syndrome. It is a chromosomal anomaly that involves the partial deletion of the 22nd chromosome, which can affect the baby's immune system, facial features, learning abilities and more... Hmmmmm....so I did some research and found that the odds of our babe having this syndrome are about 40% or so. I called our genetic counselor to see if my amnio had by chance tested for this syndrome. Her response: "We didn't test for it, but we should have." UUGGGgggg!! At this point our options are to wait till birth to find out if the baby has this anomaly, or do another amniocentesis to find out ahead of time. I'm not big on worrying for long periods of time (although I should be used to this by now), so I am opting to do another amnio on Wednesday. Another long needle in the belly, another 10-day wait, another problem to worry about for our baby...
This is when I have my meltdown.
I thought we had rounded a corner and that we were at least done with the worrying portion of the pregnancy, but alas...there always seems to be more these days. I'm trying so hard to stay positive amidst all of this and find peace and strength to get through it. Thankfully my wonderful husband helps tremendously. Without him, you'd all be visiting me in the mental wing of the hospital instead of the maternity ward.
Our baby will have enough to overcome once he enters this world. Please pray that the heart issues are ALL he is going to have to deal with.
p.s. I hate the internet.
Sunday, December 10, 2006
News on el corazon
Friday was our 26-week ultrasound/echocardiogram and after waiting what seemed like forever for this news, we finally found out what is wrong with our baby's heart. Our little peanut has something called Tetralogy of Fallot (TOF), which is one name for a combination of four different heart defects. One of the defects, the most serious one, is called Pulmonary Atresia, which means that the heart was formed without a pulmonary valve (the valve that pumps blood to and from the lungs). Within the first week of the baby's life, he will need to have open heart surgery to put in a shunt that mimics the function of a pulmonary valve. Without this, he wouldn't survive past the first few days of life. This first surgery will be the most risky since the baby is so small and new to the world. We need to do everything we can to make sure he is born a big, healthy baby so he has the best chance of survival through Surgery #1. Luckily, we live in the same city as a very good Children's Hospital and the surgeons there do approximately 80-90 of this same surgery per year, so this is reassuring. The doctor told us that the odds are in our favor that the baby will come out of this surgery without something major happening....as long as he is born big and healthy.
At about 4-6 months of age, the baby will need to have another surgery where they remove the shunt and put in an artificial pulmonary valve. They will also repair the hole in the wall of the heart at this time, which is another one of the defects. This surgery has even better odds of being a success because the baby will weigh more and will have a better immune system. In an ideal world, this surgery will be considered the "complete repair."
BUT.....since our baby has the most serious kind of TOF (with no pulmonary valve, as opposed to a partial or narrowed valve), any "fake" valve they put in to mimic the real thing is not real body tissue, so is not going to grow with the baby. By the time he reaches the age of about 5, his heart will be bigger but the fake valve will be the same size it was when they put it in, so they will need to go in and replace it with a bigger one. Then they will have to repeat that at about age 20 and probably again later in adulthood. All of this is best case scenario, assuming no other major complications take place. Replaced (fake) valves can become "leaky" and can cause more trouble and more surgeries and may need more attention. The most important thing is that we continue with good cardiac care for the rest of our son's life.
This shouldn't limit his life much. He should be able to run around just as much as other kids and lead a normal life, as long as both surgeries go as planned. This is pretty overwhelming news, as no one wants this for their baby, but we are grateful for knowing what to expect beforehand. I can't imagine having to process all of this in about 5 minutes, after the baby is born, as many parents must do. We are taking things one step at a time. Our first step is to make sure the baby isn't premature and is born as big as can be. Our next step will be to get through the first delicate surgery, and so on....
Why this has happened we do not know. Sometimes genetics play a factor, but sometimes it's just a fluke....so I guess we just figure we're one of the chosen ones! Only ~2 in 10,000 babies are born with this disorder.
PLEASE keep Baby Porta in your prayers. We have another ultrasound in 8 weeks to see if anything has changed, and we would be so happy if there were slightly better news by then (like if the pulmonary valve were at least partially formed instead of non-existent). Dan and I are so grateful for all of the good energy and prayers that have been sent in our baby's direction in the past few weeks. Baby is so special to us and we are so excited to meet his sweetness. We would not change a single thing about him!!
We will keep you all posted.
Love, Megan & Dan
At about 4-6 months of age, the baby will need to have another surgery where they remove the shunt and put in an artificial pulmonary valve. They will also repair the hole in the wall of the heart at this time, which is another one of the defects. This surgery has even better odds of being a success because the baby will weigh more and will have a better immune system. In an ideal world, this surgery will be considered the "complete repair."
BUT.....since our baby has the most serious kind of TOF (with no pulmonary valve, as opposed to a partial or narrowed valve), any "fake" valve they put in to mimic the real thing is not real body tissue, so is not going to grow with the baby. By the time he reaches the age of about 5, his heart will be bigger but the fake valve will be the same size it was when they put it in, so they will need to go in and replace it with a bigger one. Then they will have to repeat that at about age 20 and probably again later in adulthood. All of this is best case scenario, assuming no other major complications take place. Replaced (fake) valves can become "leaky" and can cause more trouble and more surgeries and may need more attention. The most important thing is that we continue with good cardiac care for the rest of our son's life.
This shouldn't limit his life much. He should be able to run around just as much as other kids and lead a normal life, as long as both surgeries go as planned. This is pretty overwhelming news, as no one wants this for their baby, but we are grateful for knowing what to expect beforehand. I can't imagine having to process all of this in about 5 minutes, after the baby is born, as many parents must do. We are taking things one step at a time. Our first step is to make sure the baby isn't premature and is born as big as can be. Our next step will be to get through the first delicate surgery, and so on....
Why this has happened we do not know. Sometimes genetics play a factor, but sometimes it's just a fluke....so I guess we just figure we're one of the chosen ones! Only ~2 in 10,000 babies are born with this disorder.
PLEASE keep Baby Porta in your prayers. We have another ultrasound in 8 weeks to see if anything has changed, and we would be so happy if there were slightly better news by then (like if the pulmonary valve were at least partially formed instead of non-existent). Dan and I are so grateful for all of the good energy and prayers that have been sent in our baby's direction in the past few weeks. Baby is so special to us and we are so excited to meet his sweetness. We would not change a single thing about him!!
We will keep you all posted.
Love, Megan & Dan
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