Waiting, and wondering...(pg ment.)

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Waiting, and wondering...(pg ment.)

Well, life has thrown us a curve ball. I need someplace to put down all this information swimming around in my head, so I finally decided to start this journal. I probably should have done this sooner, but...oh well, I am starting it now. I am currently 22.5 weeks pregnant with our 2nd child. It all started with a seemingly innocent NT screening at about 11 weeks.

First a little background: I am 35, DH is 34. We have a 2.5 year old son named Austin, who is just a blessing, and he makes us laugh every day. We decided to try for another little one in January of this year. Austin took 13 months to conceive; this one we managed in half the time. Lol On July 7, 2009, I took a pregnancy test completely on a whim (I was soooo sure I had not conceived that month- our timing was off) and was blown away to see a 2nd line. Over the next few weeks, I kept waiting for the train to derail - but it didn't. At our 8 week appointment, we saw a heartbeat. However, we did not come away from that appointment with no worries-- my OB saw a "black spot" on the baby's head that he didn't know what was. Since I am 35, he was already recommending that I see a perinatologist anyway, because of my age. So, he just figured the peri would be able to provide more information or insight as to what the black spot was.

So, that brings us up to speed. DH and I went to the peri when I was about 11.5 weeks for a routine NT screening.

Will update more later. Need nap now. Lol

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So, we be-bopped into our NT screening not expecting anything unusual. I had only turned 35 about 6 months before, for pete's sake. At the NT scan, the dr. measures the nuchal fold at the back of the baby's neck. A thicker than normal fold *could* mean abnormalities. The dr. said the cutoff was 3.5; ours measured 3.9. He said everything else with the baby looked good - the baby's size was measuring right on, and everything else looked structurally fine - the heart, the arms, legs, etc. The dr. said that the high NT measurement meant that there was a 20% chance that the baby had abnormalities - an 80% chance that the thickenened fold was just a little extra fluid that would resolve itself in a few weeks. He said to focus on that 80% and he would like to see me back in a few weeks. I also had some bloodwork done. I left the appointment feeling a little numb and somewhat like I had been kicked in the stomach- I had never had any problems with Austin's pregnancy - nary an abnormal test result. I have never even had an abnormal test result myself - so all of this was unsettling and strange. :confused:

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About a week later, the nurse called with the bloodwork results from the NT screening. The bloodwork came back normal for Trisomy 13 & 18, but abnormal for Down's syndrome (aka Trisomy 21). So, the bloodwork combined with the NT measurement put us at a 1 in 10 chance for Down's. I just didn't know what to think. Of course I know what Down's syndrome is, but I have never personally known anyone with it. I spent the next few weeks pondering what it would be like to have a child with Down's and trying to focus on the fact that there was a 90% chance that the baby wouldn't have Down's. I had another appt to see the peri when I was about 15.5 weeks.

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I went back to see the peri when I was about 15.5 weeks. This appointment was even more bad news. The dr. measured all the parts of the anatomy and looked at all the organs, etc. The first thing he told me was that the arms and legs were measuring about 2 weeks behind the rest of the body (less than 5th percentile). He also found that the fluid on the brain was measuring a little on the high end, and he found a cyst that he called a "Dandy-Walker cyst". The cyst is between the 2 halves of the cerebellum (the back part of the brain). It looked pretty prominent, I could definitely see it on the ultrasound. He was also able to tell that the baby was a boy - that was exciting to hear, although it was bittersweet, given all the other crappy things that the dr. was telling me. Sad

I will never forget the dr's words - he said he thought that there was a "significant, real chance" that the baby had one of the trisomies. He said he didn't want to sway me either way, but if I chose to have an amniocentesis (the only way to know for sure), that he would like me to get one that week.

I had already been leaning toward NOT getting an amnio, just because I had so many questions about it. I wasn't sure if it was the right thing to do, because it carries a risk of miscarriage (1 in 200 according to the doc) - would I be deliberately risking the life of my baby because of my need to know?? Would God hold me accountable for killing my baby if I did miscarry because of the amnio? In fact, I wasn't sure I wanted to know any more. I sobbed the whole way home, thinking about all this stuff. I was just DONE with all the testing, the stress, the bad news. I thought, I don't care to know any more information--it's enough for me to assume that the baby isn't going to make it, and I'll just love this baby as much as I can while it is still alive and deal with it when he passes away and is born stillborn. I truly had come to that conclusion.

Then when I got home, I talked to my DH, and he said that he hoped it wasn't selfish of him, but he would really like to know what we are dealing with for sure, so he kind of wanted me to have the amnio done. We went and met with our minister and his wife the next night to let them know of the situation and to just let things out. They were so supportive and caring. They let us know that we are not alone. I decided to go ahead and have the amnio done; it was scheduled for that Friday. I would be 16 weeks, 1 day.

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So, we went for the amnio when I was 16w1d. The amnio did hurt, I won't lie- it felt like a needle being jabbed into my uterus, which is what was happening. Lol But it wasn't anything I couldn't handle, and the pain didn't last long. The dr. did have to go in twice with the needle because the baby wouldn't move his legs out of the way. Smile The dr. took the needle in all the way to the uterine wall, but then pulled it back out and we just sat there and waited for the baby to shift his legs and feet out of the way. Finally, he must've moved, because the dr. went in again with the needle and pulled out the fluid he needed. That part only took about 15 seconds, and that was it, we were done! I had to get a Rhogam shot in my butt afterwards, because I am Rh negative. That dang shot was $120 and my insurance refused to pay for it, which I'm still upset about, and I don't understand. But, I digress.

I had to be on bedrest the rest of the day and the next day. The doc said we would have initial results within 2-3 days, which would tell us if the baby had Down's, Trisomy 13 or 18.

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I spent the weekend trying to prepare myself for the worst. I imagined scenarios in my head where the call would come with the worst possible news I could think of..."yes, Mrs.___, we have the results and the baby does have Trisomy 13 (or 18 )." I just didn't know how I would handle it.

The following Tuesday morning (the amnio was done on Friday), I was eating breakfast when the phone rang. I knew it was the dr's office calling because it came up on the caller ID. My heart immediately started pounding and I started shaking all over. I squeaked out "hello?" and the nurse said, "yes, I'm calling with your initial results from the amniocentesis. The results came back normal." My heart leapt -- I thought I was imagining things. She said they should have the final results in about a week. Such relief washed over me that I have never known before. I just kept thanking God over and over as I dialed my husband, our minister, my mom, my sister, and told them all the good news. Of course everyone was thrilled.

I knew that we definitely were not out of the woods -- this only meant that the baby did not have one of those 3 major conditions - Down's, Trisomy 13 or 18. They were still testing for other conditions like spina bifida, muscular dystrophy, cystic fibrosis, etc. - none of which were "good news" by any means.

In about a week, the nurse called again and said that all of the final results had came back from the amnio -- normal. More relief. But, what was going on with our baby??

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My next appointment with the peri was when I was about 18.5 weeks. I was very curious to see what the dr. would find with this ultrasound, because we now knew the chromosomes were normal. However, I should have known that everything wasn't going to magically be okay. The legs and arms were measuring about 3-4 weeks behind this time, and the Dandy-Walker cyst was still very prominent. He also saw signs that there might be a ASD or VSD (hole in the heart) but he couldn't tell for sure.

The dr. did check the rest of the anatomy and everything looked fine, no club feet, no cleft palate, 5 fingers and 5 toes on each hand & foot. So all of that was good news.

But, what did all of the anomalies mean? The dr. mentioned dwarfism more than once during the rest of the appt. He said that there are hundreds of different types of dwarfism, some of which could be lethal. The problem with these lethal types of dwarfism is the chest cavity doesn't grow big enough to support the lungs, so the lungs don't develop enough and when the baby is born, it can't breathe on its own, so it dies within a few hours after birth. Sad He said we may not know for sure if/what kind of dwarfism the baby had until he was born, and the peds would do a full-body x-ray to determine the size of the bones, etc.

So the next step was to see a pediatric cardiologist to determine if there really was a hole in the heart. Then, the peri would try to put all of these "symptoms" or anomalies together to see if they were part of a bigger syndrome, or condition.

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A couple of days later, we saw the pediatric cardiologist. She did confirm that she saw a 3mm hole in the heart (VSD-ventricular septal defect). She said it was a pretty small hole, and oftentimes they will close up on their own before the baby is born, or within a few months after birth. If not, surgery can be done to repair it. She said it is a pretty common condition, and that the rest of the heart looked perfectly normal. She seemed to be a very positive doctor, and we left the appt feeling pretty okay with things.

Side note: It is amazing what a little positivity will do for one's spirits when you've been feeling so beaten down. Our peri is a great doctor and I know that he is knowledgeable, but by this time, we had figured out that he always seems to lean towards the worst-case scenario. I know that is probably what he feels like he has to do, just to prepare his patients. Or maybe it's just his personality. But he is always very straightforward with the facts, not a lot of compassion or positivity about how things COULD turn out to be not so bad. I always leave there feeling beaten down and defeated. :confused:

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Well, that brings us up to my latest appointment, which was this past Monday, when I was 22.5 weeks. I have to say that I have become accustomed to trying to "prep" myself for bad news when I go to these appointments, because it seems like that's all I ever hear when I go. I am probably the least confrontational person in the world, but I like to confront people and say what I need to say to them -- in my head. Smile So, the night before my appt, I was thinking about what I would say to my peri if I had the guts. I would describe to him that, "for the 3 or 4 weeks in between appointments, I sort of coast along and maybe convince myself that things aren't so bad as they seem. And then when I have the appointment, I leave here feeling like I have been kicked in the stomach. So defeated and deflated. And then everyone wants to know, 'how was the appointment?' and I have to repeat the same bad things over and over and over. Hey doc--Do you have any idea what an emotional toll this is taking on me and my family? The complete and utter rollercoaster this is?? I UNDERSTAND that you have to give me scenarios -- I know that you are just doing your job by telling me all the bad things it COULD turn out to be, but for once, it would be fantastic to - just once - hear you say 'but, you know, it COULD turn out to be not so bad, and the baby could display only mild or no symptoms.' The truth is, you just don't KNOW what the problem is, and you probably won't until I'm farther along or even until the baby is born, so why are you going to the worst places so soon??" :confused:

Well, anyway, that's what I said to him in my mind.

So, this is why I have started trying to dial myself down before each appointment, because I have come to expect the worst.

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Anyway, the appointment. The dr. found that the limbs are now measuring 6 weeks behind! I am certainly no expert in anatomy and ultrasound, but even I can tell -- when he's calling off measurements to his nurse and the lower leg bone is only measuring 15mm and the foot is measuring 40mm -- something is NOT right there. Sad

The Dandy-Walker cyst is still there on the brain, though he said it was "not as prominent". I took that to be a good thing-- maybe it is shrinking? But a big thing he kept talking about was the hydrocephalus on the brain, which he hasn't even mentioned for the past few appointments. Apparently it is making the ventricles of the brain enlarged -- and maybe the head itself -- he did say the head was measuring a bit on the large side. The rest of the body is measuring just fine, except for the abdomen, which is measuring a bit on the large side.

I asked him about the dwarfism discussion that we had at the last appointment, and if the chest was measuring okay. He did say that the chest is measuring normally right now, and if he had to make an educated guess, that the chest size is not going to be an issue, and that the lungs should have enough room to grow. That made me feel better.

So, the bottom line from the appt was....he thinks the baby might have some rare syndrome. He had done some research before the appt and narrowed it down to about 5 or 6 conditions that he thinks it *possibly* could be. He read them off to me, some of which he had trouble pronouncing. I get the feeling that this is just a little beyond his expertise -- he doesn't normally deal with these things because they are so rare. He said that there are over 5,000 of these "single cell" syndromes. A more accurate way to test would be to send off some cells and do DNA testing on them for each of the suspected conditions, which would require another amniocentesis (it's been too long since my first amnio to have any cells left over from that). He didn't think I would be willing to go for another amnio (which is true), and plus, it's very expensive to test for each of these conditions - probably over $1000 for each test!

Each of the syndromes he mentioned has a wide range of complications and symptoms -- from mental retardation, neurological issues, to worse -- the child does not live past the first year of life. Sad It just depends on how severe the syndrome manifests itself.

By the end of the appointment, he had recommended that I see a medical geneticist. He said that she can narrow it down even further to 1 or 2 conditions that she thinks it might be, and then we can go from there. Of course, it would be her opinion only. But I think I would feel better knowing a little bit more of maybe what to expect. He did say that we will probably not know absolutely for sure until the baby is born and they can send off blood or tissue and test for these conditions. And even then, not every syndrome has DNA testing available, so we may not even have an answer then. He said the genetic doctors may debate about it for months after the baby is born, if there is no clear diagnosis.

So, we wait, and wonder. I am currently waiting on my peri's office to call me with an appointment with the medical geneticist. I am anxious to see what she has to say -- to see if she can make any sense of this.

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I realize that what I've posted so far has mostly been very dry, factual info. And one of the reasons I wanted to start this journal was to write that kind of stuff down, but also to have a place to let out my emotions and how I am feeling about all this, day-to-day. Because believe me, my feelings change daily and sometimes hourly.

I was really having a hard time with everything last week, after my last u/s. I think a lot of it was pregnancy hormones, but either way, I really found myself feeling down and weepy about everything, and also oddly, slightly angry about everything. I was having a hard time praying for the baby. I am normally a pretty positive person, but I found it was just getting harder and harder to be upbeat about things and to really feel like everything is going to be ok. For the most part, up until now, I have really had this overall, pervasive feeling throughout all of these ultrasounds, that everything really will be ok with the baby, that he won't have too many challenges, and the ones he does have can be fixed and/or overcome. But now, I guess I am second-guessing and maybe finally admitting that we may not have this baby for long. I haven't been in denial--of course I have definitely thought about the baby possibly passing away before this, but overall, I have remained calm that things really won't be as bad as the dr. is saying they could be. Now, I guess I am just accepting things as they really may be, and trying to be more realistic. It hurts like heck to think of the baby being born with so many problems that he may be a vegetable, and/or have seizures and many other neurological challenges, and that his little body may not be able to sustain life because of all of the problems with his brain. I just really, really can't stand the thought of him suffering. So as hard as it would be, I would rather God take him than to have to see him in any kind of pain or suffering.

It is truly horrible to have to think about things like this. I never, ever thought we would be dealing with something like this.

But I am feeling better about things the past couple of days. I have sort of found my voice again when praying about the baby, and that makes me feel better. I know the baby is in God's hands, and I have to keep reminding myself of that.

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Baby boy has been kicking (or whatever he does in there) a lot today. I told DH that I have no clue what is going on in there. The last 2 appts, he has been breech, which explains the kicks that I feel down low, but the past week or so, I've also felt lots of flip-flopping, big heaves, and somersaulting down low. Feels like he's practicing his wrestling moves. Smile

I have 2 appointments tomorrow- my regular checkup with my OB, and another with the pediatric cardiologist. The cardiologist wanted to see me every month to check the VSD in the baby's heart. I am interested to find out if it's gotten bigger, or just what is going on with that.

Man, I was going to go to bed early tonight. Looks like that's been shot to pieces. Lol I plan on getting up and going to Walmart early (well, early for me anyway) tomorrow to get my Thanksgiving food shopping done. I despise going when it's so stinking busy and everyone and their brother is there, so I find that mornings are the best time to go - a little more peaceful.

Also - the medical geneticist's office called today to try to set up an appointment. I missed the call, and when I tried to call back, the office was closed, so I will try to set that up tomorrow.

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Boy, I feel like I have been hit with a baseball bat. I got up and went to Wally World this morning and bought Thanksgiving food, came home, went to my OB appt, came home for an hour or so, then got in the car and drove an hour to my cardiologist appt, drove back home, went out to eat with DH and DS, then we stopped by the Dollar Store for a few more things. Then it was my night to get all the trash loaded up in bags (it's trash day tomorrow), and we have seriously, like 7 trash cans in the house that need to be emptied out and new bags put in. :rolleyes: So I did that, and then told DH I was going to drink some water and lay down for a while. I kept having Braxton-Hicks...I guess that's what they are...that uncomfortable tight abdomen and my back was hurting. I laid down and drank some water and watched TV for about an hour and I feel much better. DH has been wonderful today, watching DS all day long and giving him his bath, playing with him all day, etc.

But I wanted to get on here and update about my appts. All in all, it was a good day in the way of appointments. The OB appt went fine--BP, urine, and baby's heartbeat were all fine. But the cardiologist appt was the real shocker of the day - in a good way! As the tech was doing the u/s, he sort of off-handedly said, "you know, I don't think I see that defect at all" (talking about the VSD--the hole in the heart). I thought I misunderstood him, so I asked him to repeat himself. My heart soared. Then when I met with the dr., she confirmed that they did not see the hole, or any other defect at all!! :woohoo: The tech said that maybe it had closed on its own, or maybe because the baby was so small last time, that they didn't really get a good look, so perhaps they hadn't really seen a VSD. But either way, there is no VSD now!! I don't have to see the cardiologist again this pregnancy. She said she might want to do another u/s after the baby is born, just to make sure, but that's it! It was wonderful to hear that bit of good news! Praise the Lord, and Happy Thanksgiving! Biggrin

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I haven't updated in a while, so thought I'd pop in. Nothing much new to report in baby news. Feeling lots of kicks/punches all the time now. I'm still waiting on the geneticist's office to call me back with an appointment - I had to send a bunch of paperwork in before they would set up an appt.

Had a great Thanksgiving - ate waaaay too much food. We're probably going to stay here for Christmas, which is very much out of the norm for us. For the past 11 years, since we've moved to TX, we've gone home to see our families in another state for Christmas. This year, they'll have to come see us! Wink I just don't feel comfortable traveling that far - it's hard for me to ride, plus I just don't feel comfortable getting that far away from home. Heaven forbid, if something were to happen and I went into labor early, we would be too far away from home to get back to our hospital. I know they have NICU's at other hospitals near where we would be going, but they don't have our history on file of the problems suspected with the baby. So, it just feels better to me to stay close to home. There's always next year for traveling again.

I'm sort of looking forward to decorating the house, and a tree, etc. Normally I don't do much because we are always gone for Christmas, but this year will be different. I am most looking forward to seeing how Austin reacts to Santa Claus and all that. He is at the fun age where he understands about Santa bringing presents and he talks about it all the time. Smile

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Our appointment with the geneticist is tomorrow at 9am! They had a cancellation, so they called today to see if we could make it. Apparently (according to their website) it normally takes 4-6 weeks to get in. I am nervous as a cat, and stressed out. I doubt I will sleep well tonight. We have to get up early and take DS to a sitter, and then get on the road for a 1 hour commute + rush hour traffic. Ugh!

I am anxious to see if the geneticist has any answers for us, or if it's more waiting and wondering.

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25w1d

I wanted to update with some information about the geneticist appointment. The appt itself wasn't earth-shattering, as in, we didn't learn a whole lot of new information, but it was a good appointment, I think. The dr. was very nice, and very clear and concise, which I appreciated. I asked a TON of questions.

She said that based upon the findings that the perinatologist has been seeing with all of the ultrasounds (hydrocephalus on the brain, and short limbs), her mind starts thinking towards a certain category of defects or syndromes that encompass hydrocephalus and short stature. Basically they fall under the broad heading of skeletal dysplasia (a group of congenital abnormalities of the bone and cartilage that are characterized by short stature). She did say that this is a guess, at this point, but the 2 conditions she mentioned were achondroplasia and Apert Syndrome (links below). The challenge with skeletal dysplasia is that the bones don't grow properly, and that seems to be happening with our baby, especially the head and skull bones. Therefore, the hydrocephalus is probably caused by the abnormal shape of the head/skull, which is caused by the skeletal dysplasia. Our baby is displaying somewhat of an abnormally shaped skull/head at this point - it is measuring short from front to back, so it is growing flat and wide to compensate for it, because the brain has to go somewhere.

These 2 conditions are not death sentences in and of themselves - she said they see many people with these conditions every day - BUT, anytime you are dealing with issues of the brain and head, there are definite risks that the baby may have severe problems. Sad As with anything, there is a wide range of severity.

So, I don't have to see her anymore during the pregnancy....she will continue to feed her opinions to my peri as he does more ultrasounds, and if any new findings alter her opinions/diagnosis, my peri will let me know. The main things they will be looking at as the pregnancy goes on will be the hydrocephalus/brain/head, and the chest size (to make sure the lungs have enough room to grow). The hydrocephalus may get better, or it may get worse as the pregnancy goes on. She did say that her hospital does many surgeries to deal with hydrocephalus (shunts, etc.) so we are in a good place if that turns out to be the main or only problem. And at this point, the chest size is measuring normally, so that is good for now.

She said that she or her colleague will want to see the baby after he is born to evaluate him, especially if they still haven't figured out a definite diagnosis by then (which I don't expect to have happened).

So, it's more waiting and wondering, as I suspected.

http://ghr.nlm.nih.gov/condition=achondroplasia

http://ghr.nlm.nih.gov/condition=apertsyndrome

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oopsie.. double post

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25w4d

Cookie Party tonight...so tired. Getting ready for "3 Christmases" starting this weekend...we have company coming for the next 3 weekends. Whew!

Tonight in the car, DS was talking about his little friend who has a baby brother (well, he's 1 y/o, but we call him a baby Smile )....and all of a sudden he says "Where is MY brother?" (we haven't told him anything about the baby - was planning on springing that on him after the holidays). I laughed and said, "Would you like a baby brother too?" He said, "Mm-hmm". It was really quite cute, because he has never mentioned anything about a sibling before.

I have another u/s with the peri tomorrow...will update after that.

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25w6d

The appt yesterday was not so good. Sad There are just so many problems with the brain. The dr. found some more problems with the brain yesterday - he was using all these big words that I don't remember now. And now he is saying the chest size may be restrictive of lung growth as well. Basically he is leaning towards a fatal form of dwarfism. He wants to send me for an MRI - that will tell us a lot more about what's going on with the baby's brain.

The gist I got from today's appt was that if the baby does not die at birth or soon after, he will have severe mental and neurological issues.

Although - we know, the dr. has been wrong before. I guess we will just pray for a miracle. More to come later.

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26w5d

I've had a little time to process the appointment. It's just all so confusing. The thing that irritates me is that I specifically asked my dr. about the chest size at my last appt, and he said it was measuring normally, and if he had to make an educated guess, he would say the chest size is not going to be an issue. Now he's telling me that the chest size is a little small compared to the abdomen, and this along with the head measuring a little on the large side, makes him lean toward fatal dwarfism.

I remembered part of the word he used, so I looked it up:
Thanatophoric dysplasia. "This is the most common lethal skeletal dysplasia with a birth prevalence of about 1 in 10 000. The term derives from the Greek, meaning death-bearing and the characteristic features are severe shortening of the limbs, narrow thorax, normal trunk length and large head with prominent forehead. In type I, which is sporadic, the femurs are curved (telephone receiver) and in type II, which is autosomal recessive, the femurs are straight but the skull is cloverleaf-shaped."

Our baby's femurs are not curved at this point, and the skull is not cloverleaf-shaped, but he will be on the lookout for these things, I guess.

It is just taking a toll because the dr. says a different thing every time. And I know that he is only doing his job, and making a guess based on what he sees at each appointment, but for heaven's sake, why make me come every 3-4 weeks for this rollercoaster ride if there's nothing we can do anyway? Why not just do an u/s when I'm closer to the end, say 35 weeks or so, and make your best guess at that point? But then I got to thinking that it's probably better to be monitoring the baby in the meantime, for things such as the liver, kidneys, etc. to make sure everything else is developing and working normally.

Anyway, I am scheduled for an MRI on Thursday the 17th. This will give us a much better idea of what the problems are with the brain. I am a little scared, as I've never had an MRI done before, but hopefully it won't be too bad.

Joined: 09/29/05
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Wow hon. Just wanted to pop on here and let you know that my prayers are with you and your little boy. You seem to have faith in God. They're only doctors. I had to learn that during my pregnancy with Nate. Start telling your little boy "You will live, and not die, and will declare the works of the Lord." We went from the docs thinking it was spina biffida only to discover after birth it was scoliosis, and mild at that. God can do excidingly, abundantly, above all we could ask or imagine. I will definitely be reading as you post updates and I will certainly be praying for your strength.

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27w1d

I had the MRI done yesterday. That was a creepy, scary experience I hope I don't ever have to repeat. *shudder* Anyway, I didn't expect to have any results yesterday, but the dr. was able to come talk to us after the procedure and give us the findings. We finally have a diagnosis, but it is not the one we had hoped for. Sad

So 3 1/2 months of wondering came to an end when the dr. handed me a printout as we sat down at the computer screen to look at the findings from the MRI. My heart sank as I read the words "thanatophoric dysplasia" at the top. In a nutshell, this condition is the most common form of fatal dwarfism, or skeletal dysplasia. Basically, the baby's skull bones did not fuse together properly, so his brain is not forming correctly and is badly malformed. In Type II of this condition, which is what our baby appears to have, the skull forms into a cloverleaf shape, and there was no mistaking it on the computer screen. It is amazing how much more detail an MRI can give you than an ultrasound. In addition, and this is where the fatal part comes in, the baby's chest will not grow big enough to accommodate his lungs, so he will not be able to breathe properly on his own when he is born. He will most likely either be stillborn, or pass away within a few hours or days after birth. The dr. also said that there is an excess of amniotic fluid right now, which is consistent with this condition.

The dr. apologized, and I was afraid to look at my husband for fear of what the news had done to him, but my dear, dear husband looked at the dr. and said, "at least you gave us an answer." It happened to be his birthday yesterday and I felt so bad, I apologized several times on the way home that we got such bad news on his birthday. We were talking last night and I confessed that it feels sort of like a weight has been lifted, because although it's not the outcome we had hoped and prayed for, at least we now know what it is, so we can somewhat prepare for it. As much as you can prepare for something like this, anyway. I dread telling our family and friends the most, because I don't want to make anyone sad or to have them feel sorry for us. The dr. did say that the condition was caused by a single cell mutation, very random, so it is not an inherited condition. So if DH and I decide to have another child, it shouldn't happen again, which is a comforting thing when you consider that if it had been inherited, we would have a 25% chance of it happening in our next child. And that would really make me stop and think about having another one.

The concept of what will happen when the baby is born is still somewhat vague to us, as we still have 13 more weeks to go. I guess we have some tough decisions to make in the weeks ahead. Right now we are just praying for strength, courage, and the wisdom to make the right decisions.

kathjoy's picture
Joined: 01/22/07
Posts: 145

Oh Kim, I have been praying for you, and will continue to pray for you, DH, and Austin to find the strength to get through this. It is a devastating diagnosis, and it is ok for you to feel angry, and sad. The best thing you can do for yourself is to let all of those feelings out... scream if you want to, cry if you want to. Please let me know if there is anything that you need. In the meantime, hug your little boy, and treasure the kicks and movement you feel from your baby biy inside you.

nori_garsi's picture
Joined: 10/31/06
Posts: 2069

"kathjoy" wrote:

Oh Kim, I have been praying for you, and will continue to pray for you, DH, and Austin to find the strength to get through this. It is a devastating diagnosis, and it is ok for you to feel angry, and sad. The best thing you can do for yourself is to let all of those feelings out... scream if you want to, cry if you want to. Please let me know if there is anything that you need. In the meantime, hug your little boy, and treasure the kicks and movement you feel from your baby biy inside you.

Kathleen said it so well. I'm so sorry Kim. If there is anything we can do for you please let us know. You and your family will be in my thoughts and prayers.

Joined: 01/07/07
Posts: 125

Oh Kim, I am so sorry about this devastating diagnosis. You are so fortunate to have a wonderful husband. His reaction to the latest news is priceless. Please don't stop having faith. And remember that our Junebuds group may be small in size but we are large in group love. If you need us, we will be there for you. We will all pray for you.

Joined: 03/16/15
Posts: 53852

I am so very sorry Kim. My heart goes out to you. I will keep you, your little boy, and your family in my prayers.

palagi-fob's picture
Joined: 09/23/07
Posts: 22

So sorry to hear about this Kim....we are all thinking of u over in March10

BuckeyeK's picture
Joined: 10/23/06
Posts: 3087

I am so very sorry. I will be thinking of you and your family and praying for you all.

Joined: 07/14/07
Posts: 860

Kim, I'm so sorry to hear this.

Joined: 01/28/03
Posts: 105

I'm so sorry Kim, I've been hoping and praying for good news for you. As Kathy said, we are small but large in love, and we are all here for you. Please, let us know if we can help in any way.

MissyJ's picture
Joined: 01/31/02
Posts: 3206

Kim, I just wanted to add my thoughts and prayers for you and your family. If there is any way that I can help offer you support please let me know.

~Missy

Shadowlark's picture
Joined: 04/26/07
Posts: 8

I'm so sorry, Kim!

Jenn0113's picture
Joined: 03/09/07
Posts: 5335

Kim - I'm so, so sorry for this news and this situation. I pray that you guys get a miracle and your son is born perfectly healthy. Its never too late for God to perform a miracle. I will be praying for peace and strength for you, dh and Austin during this tough time and as you tell your family and friends.

Alissa_Sal's picture
Joined: 06/29/06
Posts: 6427

I am so, so sorry. You and your family will be in my thoughts.

Joined: 07/24/09
Posts: 1

My heart is with you now. There aren't enough words to express my deep sympathy. So very sorry. We will be praying for you daily.

I love my boys's picture
Joined: 11/28/06
Posts: 23

Kim, I am so sorry to hear this. I want you to know that my thoughts and prayers are with you and your family during this very difficult time.

Allie01979's picture
Joined: 10/10/07
Posts: 4706

I'm so sorry, I've been following your journal, and this is heartbreaking. :bighug:

I'm_a_pepper's picture
Joined: 10/25/05
Posts: 606
28w5d

First of all, I am so appreciative of the outpouring of love and support from all of you who have posted and PM'ed me...it never ceases to amaze me the kindness that is shown during situations like this, and from people who have never met me, no less. :bigarmhug:

Our holidays were good...all of the family has come for their designated weekends and showered us (esp. Austin, lol) with gifts galore. I had a few moments of sadness...certain songs especially get to me. But overall, we are doing pretty good.

I had another appt with the peri yesterday. The ultrasounds now are pretty short and to the point. The baby's head is measuring very big (38 weeks) and his arms and legs are still extremely short at 17-18 weeks. The dr. was able to see the cloverleaf shape of the skull this time on u/s, although I still had a hard time picking it out -- the MRI had showed it very much in detail, though. The peri still agrees with the diagnosis of TD.

We mostly talked about delivery options. For several weeks now, ever since the baby was first suspected to have birth defects, the peri has recommended that I not deliver at my local hospital (which does not have a NICU) and recommended that I deliver at his hospital (an hour away from our house), which has a Level III NICU. However, at the last appt, he mentioned that if the diagnosis is fatal, I would have the option of delivering at my local hospital. Yesterday, he brought the subject up again and wanted to know what I thought. He did bring up a good point -- if I decide to deliver at the larger hospital, he said that on the remote possibility that they (the doctors) are wrong, and the baby does want to breathe on his own, that we would already have the NICU resources available immediately. I had already made my decision to deliver at the larger hospital, but my reasons were more personal. I am not sure if this sounds strange or not, but I decided that I would rather keep the bad associations and memories at the larger hospital. My older son was born at our local hospital, and I have such good memories of that, not to mention I have to drive by it every single day, and I think those emotions would be hard to deal with, if I did have this baby locally. Not that I want to shut the whole thing out or "make it disappear" by having the baby at the big hospital...I just think it might make this tragic situation a little easier.

We also talked about delivery methods...he said that if the baby is breech and the head is very large, he would recommend a c-section because the head will get stuck and cause trauma to the birth canal. I was thinking this would be the case no matter if the baby was breech or not, but oh well. I guess he thought maybe I would want to try to avoid a c-section and deliver vaginally even if the baby is breech, given the circumstances. I told him I don't care how I deliver - I am not opposed to a c-section - whatever is the safest and best is what I'll do. I guess I will talk more about that with my new OB...that's one more thing -- I'm having to switch OBs to a new one at the larger hospital...sheesh.

Anyway, a little TMI...I think I lost some of my mucus plug yesterday and today, but it seems to have stopped. The dr. did say yesterday that I am at risk of pre-term labor or my water breaking early because of the excess amniotic fluid, but he checked my cervix yesterday and it was fine. So I'm not too worried, but I can't help but think back to the fact that my water broke with DS less than a week after I lost my mucus plug...ack! I know that it regenerates, and I am sure that I didn't lose ALL of it, just some of it, but still, that thought is in the back of my mind.

Joined: 01/07/07
Posts: 125

Oh Kim, that is so wise, to keep the memories in another hospital. That makes perfect sense. You are so strong. I cannot imagine having your personal strength. You are an inspiration, truly.

I am glad you and Austin and your family had a nice christmas.

drewsmom1's picture
Joined: 10/10/06
Posts: 50

Kim- I am so sorry about the diagnosis and am in awe of your ability to make decisions while in such emotional turmoil. My thoughts and prayers are with you.

Joined: 09/29/05
Posts: 826

You have an incredible amount of strength. We continue to pray!

Joined: 10/05/06
Posts: 40

"I'm_a_pepper" wrote:

I had already made my decision to deliver at the larger hospital, but my reasons were more personal. I am not sure if this sounds strange or not, but I decided that I would rather keep the bad associations and memories at the larger hospital. My older son was born at our local hospital, and I have such good memories of that, not to mention I have to drive by it every single day, and I think those emotions would be hard to deal with, if I did have this baby locally. Not that I want to shut the whole thing out or "make it disappear" by having the baby at the big hospital...I just think it might make this tragic situation a little easier.

Kim - I'm a former May '07 mom who was lurking on the May/June '07 board when I saw your post. I've read through your thread here and I am so sorry about everything that you have gone through these past few months and with the diagnosis you've been given for your sweet little boy. We lost our first DD to a fatal birth defect. It's something I wish no parent had to ever deal with.

I wanted to let you know that it is not strange to want to deliver at the large hospital for fear of the associations you will have with the hospital. I delivered DD #1 at a large hospital about 30 mins from home and everytime we drive past it, I can't help but feel sad. Even thought it's the place where DD was born and we spent 3 hours with her there, it's also the place where I last saw her and held her. We had DD #2 at a local hospital which we drive past often and when we do, I find myself smiling and feeling happy. Neither feeling is a conscious decision, it's just something that happens when I see those buildings. Your not strange at all Kim. If anything, what you're feeling and thinking is perfectly normal. Feel free to pm if you'd like to talk.

kaliquen's picture
Joined: 02/16/07
Posts: 8

Kim, I'm so sorry to hear about this. I can't even imagine what you must be going through right now. Try to enjoy those little kicks and punches and know that you are in my thoughts. ((((HUGS))))

Fawn's picture
Joined: 12/07/06
Posts: 141

(((Hugs))) I hope the delivery is smooth and maybe your little guy will surprise everyone and breath on his own and be able to know his parents loving gaze, if only for a bit.

I'm_a_pepper's picture
Joined: 10/25/05
Posts: 606
29w3d

:yawn: So very tired, but I wanted to write in here a little bit. I appreciate everyone who comments on my journal, and who commented on the threads I posted a while back about the diagnosis.

Got a few more awkward comments at church today about the baby...we really haven't told anyone about the diagnosis except a few close friends and some of our family. So that means most of the people at church don't know what is going on, so they ask me when I'm due, and make comments about Austin having a new little brother to chase around in a couple of months, etc. (Our church is a very close congregation, and not very big--sort of like our 2nd family since our real families live in another state) Everyone knew that we were having testing done on the baby a few weeks ago when we had the amnio done, so we were on the prayer list, but I guess now everyone assumes that everything turned out fine or they've forgotten about it. :confused: And I just can't bring myself to tell them the real story when they ask now. I'm sure they think I'm rude or weird when I change the subject or kind of turn away when they say something. Our minister is supposed to announce it this coming Sunday, so I guess everyone will know then. We wanted it done that way because it will eliminate us having to tell everyone individually, which is just so painful. I know that we will still have to repeat the story over and over after the worship service to people who approach us, but this way at least we don't have to make the initial announcement to people. On one hand, I am relieved that it will be out in the open, and on the other, I am dreading the fact that everyone will be sad, and that will make me sad, too, when I talk to them after services. Ugh...

Strangers also ask me when I'm due, but I can usually make a quicker getaway with them and not seem so rude. I try to hide it with a coat or something, but it's just so darn obvious that I'm pregnant, because I'm HUGE. I have "moderate to severe" polyhydramnios now (too much fluid) according to the dr. I'm not sure what will happen due to this. The dr. said I was at risk of going into pre-term labor or my water breaking early, because it puts so much pressure on my cervix. But he measured my cervix at my appt last week, and it was still fine. :dontknow:

Emotionally, I have good days and bad days, or good hours and bad hours, is more like it. I have been looking around online for a TD support group or something like that, but haven't really found anything. I have found some stories and blogs and journals of people who have had children with TD, so that has helped to know that there are others out there just like us. They are terribly sad to read, of course. I also looked to see if the hospital we will deliver at has a perinatal hospice program but I don't think it does. We are just so clueless about all of the preparations that should be made, so we will need a lot of help with that. Maybe there's not a whole lot that needs to be done in advance, I don't know. Surely the hospital as big as the one I am delivering at is somewhat prepared for infant deaths, as many infants as they deliver there daily and weekly, so maybe they will have some help available to talk to us in advance. I will ask my new OB for some resources.

DH and I talked about the funeral, etc. a bit the other night, and we cannot stand the thought of sitting in a church or chapel for a formal service....that is just way too sad and uncomfortable for us. If anything, we will have a short graveside service with just family. The other thing is where we would have the burial, because all of our family is a state away, therefore the "family" cemeteries are where our parents are.

I know I may seem a little too much in control of my emotions, but believe me, they are right at the surface. It doesn't take much for the tears to come. But, I know in my heart of hearts that God will make everything okay. Even if the baby's underdeveloped lungs/breathing were not the fatal issue, his brain is so badly malformed that he would have no quality of life, so in a way, it will be a blessing when God takes him. It is just my prayer and hope that he will not suffer. I can't bring myself to pray for a miracle, I just can't. I just pray that God's will be done. And this baby's soul will be fine no matter what, I absolutely believe that. He will go to be with God. Of course that doesn't mean that we wouldn't jump for joy if the doctors turned out to be totally wrong, but I have seen the ultrasounds and the MRI results for myself, and there is just no denying the things I have seen, no matter how much I want to believe that the baby kicking and punching me and hiccuping will turn out to be completely healthy.

So, of course we are sad, because it's a terribly sad situation, but I'm not completely sure why we are sad. The baby will be in a much better place. DH said maybe we are mostly sad because we had such expectations about this baby and those expectations are not going to come true. But (and this probably sounds terrible) I personally have never gotten to the point in this pregnancy where I thought and dreamed and got excited about having another baby in the house, never made plans about where to put the crib, never bought any outfits, anything like that. Because it seems like we have always been unsure about what was going to happen. It's a crappy way to experience a pregnancy, for sure.

I think the thing I am the most sad about is that this child is still a child that DH and I created together, he is part of both of us, and we will never get to experience the same things with him as we do with Austin, seeing him grow up. But he will definitely be loved, whether he is here with us or not.

Joined: 01/07/07
Posts: 125

You have such amazing strength. You will find answers when you need them. Those questions don't need answering yet.

big hug to you

Joined: 10/05/06
Posts: 40

"I'm_a_pepper" wrote:

Emotionally, I have good days and bad days, or good hours and bad hours, is more like it. I have been looking around online for a TD support group or something like that, but haven't really found anything. I have found some stories and blogs and journals of people who have had children with TD, so that has helped to know that there are others out there just like us. They are terribly sad to read, of course. I also looked to see if the hospital we will deliver at has a perinatal hospice program but I don't think it does. We are just so clueless about all of the preparations that should be made, so we will need a lot of help with that. Maybe there's not a whole lot that needs to be done in advance, I don't know. Surely the hospital as big as the one I am delivering at is somewhat prepared for infant deaths, as many infants as they deliver there daily and weekly, so maybe they will have some help available to talk to us in advance. I will ask my new OB for some resources.

I never thought to ask about how our hospital handled these situations in advance, but I was told when I checked into my delivery room that a counselor who is trained for situations like ours was scheduled to visit us and we were told that we did not have to see her if we did not want to. We did want to see her though because we were just clueless as to what to expect. It turns out that she had a similar loss to mine and because she had been counseling people for 30-some years, she had seen it all and had a wealth of knowledge to share. She talked to us about our choices for burial, cremation, etc. and gave us the name of a funeral home who specializes in infant loss cases with the hospital. We would have never been prepared for most of what happened during our hospital stay if it wasn't for that wonderful woman. We also found out during our stay that the nurses handling cases like ours are specifically choosen to work with us. There are some who refuse to work with infant death cases or in our case, pregnancy termination cases and that's totally understandable. Our nurses were amazing though! So caring, gentle and kind. You could tell that they choose their words carefully when talking with us. The resident who started my induction was just as amazing as the nurses.

I would suggest that you ask your OB how the hospital handles cases like yours and if there is a patient advocate or counselor you can talk to in advance so that you have as much information ahead of time as possible. The last thing you want when you are facing the loss of a child is to deal with insensitive or uninformed people.

alwaysamom's picture
Joined: 01/08/09
Posts: 23
Photographers

No matter how painful, I think in years to come you will want to remember your babies face. This website http://www.nowilaymedowntosleep.org/locate_photographer/ specializes in this. My thoughts are with you.

Joined: 03/16/15
Posts: 53852

I have been following your journal and wanted to let you know that I am lifting you, your family, and your baby up in prayers. :bigarmhug:

Joined: 10/05/06
Posts: 40

"alwaysamom" wrote:

No matter how painful, I think in years to come you will want to remember your babies face. This website http://www.nowilaymedowntosleep.org/locate_photographer/ specializes in this. My thoughts are with you.

This is great advice. We received similar advice before our trip to the hospital so we were prepared to bring our own camera. We weren't sure that we were going to take pictures, but wanted to have it just in case. We ended up taking many pictures and videos of our baby and are so happy that we did. The hospital offered to have a professional photographer take pictures of our baby as well, but we declined. It was offered though. You can check with your hospital ahead of time to see if they offer similar services.

I'm_a_pepper's picture
Joined: 10/25/05
Posts: 606
30w1d

I'm not sure what to write, maybe just some random thoughts. But it helps me to jot down some of my feelings in here from time to time...it helps me to make sense of my thoughts and feelings, and sometimes it clears up some things I have been feeling but unable to put into words.

Sometimes I wonder how I am going to make it, physically, another 2 months. My ribs hurt, I have shortness of breath, and I have trouble getting comfortable in bed. These are things I really never experienced too much when I was pg with Austin, I guess because this baby is usually breech, or because his head is so large? I'm not sure. But I feel like he is waaaaay up high, constantly under my ribs and in my chest area. I already feel and look like a huge whale, and it is getting more difficult to do simple things, like get up off the couch, lean down and pick stuff up, wipe something off the floor, or get down on the floor and play with Austin like he wants me to do. That one is the hardest, I think. I can get down with not too much trouble, it is the getting up that is the hard part. Smile I just wish I could do the things I am used to doing. Austin has adapted very well, though. He never asks any questions or gets angry because I can't do the things I used to do.

I keep wondering if we should tell him anything about the baby beforehand. We haven't even told him that we were having a baby...we have just always been so unsure of the outcome...if we were going to get to bring the baby home, etc. Why burden his little mind with so many unknowns? He doesn't even know that babies come from a mommy's belly (we've never explained that to him), and he certainly doesn't even have a remote clue what death is, and why a baby would be alive one minute and not the next. He knows what it means to have a little brother or sister, I think, but beyond that, anything we told him would be an abstract concept to him. The only benefit to telling him beforehand would be if we had any hope that the baby would be coming home...he would definitely need to have been at least introduced to the concept of having a little brother beforehand. But I guess if a miracle happened and the baby does live, we would have time to talk to Austin about it then, while the baby was in the NICU or whatever.

The most likely scenario though, will be that Mama goes into the hospital, and Daddy stays with Mama, and Austin gets to stay a few days with Mamaw & Papaw. We are still not sure whether or not we want to have Austin come to the hospital to "meet" the baby. I guess we will just see how things play out. I am not much of a planner or a see-ahead kind of person...DH and I are much more just "wait-and-see" type of people - we'll cross that bridge when we come to it, and see what we want and feel like doing at that time.

People keep asking me how I am doing. Well, I just keep plodding along from day to day. Really, what else am I supposed to do? I simply don't know what else to do except keep moving forward. Time marches on. But then every once in a while, I stop and think how hard it is to believe that all this is really happening. I think I have read that the odds of this condition occuring is 1 in 20,000-50,000. But it really never crosses my mind to ask God, "why me?"...I think that is absolutely a futile thing to ask. I can think of so many people who have things worse than we do. People who never seem to catch a break for long. People who are constantly having to deal with hardships and grief in their life. I am thankful that my life has been relatively untouched by grief so far. And my gosh, when I think of all the many other ways that I have been blessed in this life, it is just incredible. Maybe that is one of the reasons God has allowed us to experience this trial, to give us a wake-up call to count all of the other blessings in our lives.

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