Doctor's appointment - 24 weeks

We had another ultrasound today, and no real new news there. The baby is growing, getting bigger, but things are still pretty much the same as they were at our last ultrasound a few weeks ago. 

The doctor was really rushed today so our appointment was significantly shorter than last time (which was fine by me, I wasn't feeling up to laying on that hard public-hospital bed for an hour and a half while three different people of increasing seniority did the same scan over and over) - but we also didn't really get as much detailed information. We did get to see her face in 3D again and she still looks like Lana to me :) We didn't  get to keep the picture though so I can't post it here.

The head and body are still average size and everything looks fine there - no problems with any of the internal organs. No hydrocephalus (fluid on the brain) or anything like that. She's currently head up so hopefully she can find some incentive to turn in the next 16 weeks. Like I mentioned in a previous post, sometimes SD babies have a harder time getting into the right position for labour and are breech, needing to be delivered by C-section.

All the long bones (arms and legs) are currently measuring at 18 weeks, or 6 weeks behind. The kidneys are still slightly swollen but the doctor said it wasn't really an issue. The main bit of information that I was wanting was the chest to abdomen ratio - normal is 0.8-1, and lethal dysplasias can be around 0.5 - our bub currently has a ratio of 0.75 - so not TOO bad there, closer to "normal" than to "lethal", and 2% better than our last scan. I said to Bernard after the appointment, if it keeps increasing by 2% each time, maybe we can get up to 0.8 by the time that the bub is born ;) 

My next ultrasound will be in a month, unless I schedule an appointment with a private doctor before then. I may try to do that, or I may wait til 30 weeks. I don't know if there's much benefit in seeing another doctor who will tell me exactly the same thing. Although it would be nice to go to a doctor who will give me pictures of the bub at least ;)

The baby is getting stronger and kicking more, and harder, all the time. I feel her moving ALL day long now. She's just like her sister, very active bub! It's nice to be able to feel her moving - I don't worry so much about her when I feel her moving every single hour... Surely that's gotta be a good sign.

20 week scan - public hospital

So yesterday I went to the public hospital to have my scan. This public hospital is a teaching hospital so at first, a student doctor started the scan. It was pretty slow going because she seemed like she hadn't done many ultrasounds before. After a while, the nurse/doctor supervised her, and then after another while, the head doctor came and took over. All up, they scanned the baby for an hour and 20 minutes!! And the beds there are soooo uncomfortable!! But it was nice to see the baby for so long. She was moving a lot during the ultrasound and it's so cool to feel her and see her move at the same time. It gives her movements more meaning, to be able to see her moving as well as feeling it. 

I had a lot of questions and had them check a few things, things that in my research may be indicators of what type of SD the baby has. Here are some of our new findings from yesterday:

The baby does not appear to have a cleft lip or a cleft palate. A cleft palate is present in about a third of babies with Diastrophic Dysplasia - but it's present in just about all of the lethal form of DD called AO2 (Atelosteogenesis, type II). The feet also don't appear to be very clubbed, and the baby is able to make a fist with her hands (something that some DD babies can't do). The bones also appear to be straight rather than curved, another thing common in DD babies. Last time, I thought he said that the kidneys were small, but he actually said that they were swollen - I think maybe I just misunderstood him last time. That could indicate some kind of blockage, but I don't really know the relevance of swollen kidneys. The chest to abdomen ratio at the moment is 0.73. "Normal" is between 0.8-1, "lethal" is around 0.5. So between 0.5 to 0.8 can indicate impaired lung function, but maybe or maybe not lethal. At least 0.73 is closer to 0.8 than it is to 0.5 so hopefully the number stays that high, or even increases rather than decreasing.

I asked the doctor if he thought it could be DD, and he said "The hands certainly look similar to that but we can't be sure. It's quite rare and Achondroplasia is much more common."

I also asked the doctor whether he thought that this condition would be lethal or non-lethal, and he said that it was hard to say for sure at this stage, but it's a bad sign that it presented so early. Usually if skeletal dysplasias are detected before 20 weeks, it is lethal. Although there are exceptions to that, and DD is one of those exceptions.

So all in all, I have some questions answered from this appointment, but we still don't have an answer as to what exactly is wrong and whether the baby will be able to survive. I do however feel that the doctor there was more willing to answer my questions and discuss his thoughts more openly so I did feel like I got more out of that appointment compared to my appointment last Friday with the private doctor. On the down side though, out of all the doctors I've seen in Hong Kong for any kind of problem, he has to have the poorest English. It's harder to understand him and sometimes he misunderstands me too. But it's still nice to feel more listened to, and I appreciate that about him.

My next appointment in the public system is on April 9 - I think I'll be 24 weeks, and then with the private doctor on April 12. Until then, it's just wait and see. 

Keep on growing, little bub!!

20 week scan

Today I had my 20 week scan. I've got kind of mixed feelings about how things went there...

The good news is that the baby is growing, the head and trunk are still measuring normal, there is nothing right now that says that the baby will definitely not be able to live. The limbs are still measuring short but they have grown since the last scan (although they are now measuring at 15 weeks, but 3 weeks ago they were measuring at 14 weeks). 

There's no real "bad news" per say, but it was quite frustrating, I came armed with my questions and the doctor (understandably, I guess) was quite vague in terms of the responses. It was still just "wait and see" and "when the baby is born..." etc. I outright asked her what she thought the baby's chances of survival were but she wouldn't answer. I understand that she can't say for sure "this baby will live" or "this baby will not live" - but I don't understand why she can't say "from the way things look now, I would guess that the baby has an good/fair/poor chance of survival, but things can change either way so we need to keep monitoring it closely". She did more talking about me and how it's normal if I'm feeling depressed and asking how am I coping emotionally than she did talking about the baby. Also I didn't get to keep any of the pics of the baby this time which was kind of disappointing. I didn't specifically ask though, I probably should have... We did get to see the baby's face again on the 3D scan and I think she looks a lot like Lana... 

I have another appointment with a different doctor on Monday, I'm currently seeing both a doctor in the public system and one in the private system as well. I figured I'd keep going to the two of them and that way I'll have two opinions. But if it's two closed-mouth opinions, I don't know if there's much good in that...

17 week ultrasound photos

Ok, so I'm finally putting up some ultrasound pics. I'm not going to put up all of them, just the ones that are either the cutest, or the ones that show the most information. A lot of the pictures are just of a random limb so that the measurements could be taken. I'm not putting up those pictures coz they're kind of boring. This ultrasound was taken 2 weeks ago when I was 17 weeks into the pregnancy. Everything measured normally except for all the bones in the limbs which measured consistently at 14 weeks. For more information, read this post. 

This is the profile shot, just for cuteness factor. I don't think that much can be seen here about the baby's condition. You can notice (slightly) that the abdomen is larger than the chest/ribs area, but I don't think it's that obvious in this shot...

This is the hand of the baby. The real "cause for concern" is that the thumb is not positioned correctly. Remember in my previous post, I mentioned "hitch hiker's thumb"? This is what it looks like on the ultrasound. (we have multiple pictures of this, this shot captured it the clearest though). 

3D shot of the baby. If you look closely, you can see the shape of the hand in this shot too. (if you click on the picture, it will enlarge and make it easier to see). The arms are disproportionally small, although probably if you're not a doctor, it's harder to see...

You can kind of see the other hand in this picture, although it's somewhat mushed against her face so it's harder to tell the shape of the hand. My understanding is though that the two hands are shaped similarly.

Another 3D shot. The arms do look very small here, even to me. 

So, there's the pics from my 17 week ultrasound. My next ultrasound will be at 20 weeks (which is next week). Hopefully I can get a bunch of pics from that ultrasound too.

This pregnancy

This pregnancy has in the most part been extremely similar to when I was pregnant with Lana. I've had no morning sickness, a small amount of "stretching cramps" which are pretty normal in the first trimester... I haven't started the dreaded foot/leg cramps yet - but with Lana, I didn't get that til late 2nd trimester and into the 3rd trimester though.

The only difference that I have noticed so far is that it's harder to feel the baby move. This is normal in pregnancies with a Skeletal Dysplasia baby. The limbs of the baby are much shorter than in a normal pregnancy, so what would usually be a fully fledged kick only feels like a little flutter. I have been feeling the baby move a bit - mostly rolling around rather than kicking though, I think. 

People are asking me all the time how I am. I tell them I'm perfectly healthy - there's absolutely nothing wrong with me. I'm not feeling sick, because I'm NOT sick... the problems only affect the baby. I don't know if this is true of other SD pregnancies, or even in other high-risk pregnancies. But it does feel kind of strange to know that something potentially life-threatening is happening to the baby and I feel absolutely nothing.

I know in my previous posts, I didn't go into detail about what the problems are with the baby... so I'll do that now.

I had my ultrasound at 17 weeks. At the time, all the bones in the limbs were measuring around 14 weeks, but the head and the length of the baby were right on 17 weeks. So far, the internal organs all appear normal (thank God!), although the kidneys may be a bit small. The rib cage appears to be a bit restricted. I can't remember the exact measurement but it was in the 25-50% range. Not dangerously small, although the doctors warned us that this measurement may get worse later in the pregnancy. This is the real determining factor in whether the baby will be able to live or not - most babies with lethal SD die because their lungs have no room to develop in their restricted chest cavity, so when they are born, they cannot breath and usually only live for an hour or so. So if you're praying, please pray in particular for the baby's ribcage to continue to grow larger, and for her lungs to develop normally. This is the most important factor in our little one's survival!! I read that in normal babies, the chest to tummy ratio (not the technical name, but it's nearly 1am!) should be 0.8-1. In lethal SDs, this ratio is around 0.5. Our bub has a ratio of about 0.7 - so not "definitely lethal" but it could be better still!!

In addition to these issues, the baby has what appears to be a "hitch hiker's thumb" - that is, it is in the wrong position, similar to the image below.

Also, she appears to be club footed - although at the ultrasound we couldn't see the feet so well because the umbilical cord was covering them! And the chin appears to be small as well.

I have TONS of ultrasound pictures. With Lana, when I had an ultrasound, we would get maybe 3 or 4 pictures from each ultrasound. With this bub, we got 40!! I'm not kidding, I just counted them all. With Lana, we had to pay extra to get the 3D ultrasound done. With this bub, they just turned it on without even telling us they were going to do it. I'm going to have to upload some of the pics to post on here.

I read something early in this pregnancy (before I even knew that there were problems) that said "It's important to remember when you have your ultrasound that the purpose is NOT to get the first photo of your baby for scrapbooking - the purpose is to look for abnormalities", and never before did I realise how true that was until I was in this situation!! 

Anyway - I've been going over the "medicine" of this pregnancy, the numbers and everything, and I have a non-medical opinion that the baby MAY have Diastrophic Dysplasia but I'm going to wait and see what the doctors say. I just want to be able to say "I said it first" if it turns out to be the diagnosis ;) The symptoms seem to fit (particularly the shape of the hands, it's a very common sign of DTD)... and a good thing about that is that Diastrophic Dysplasia is not lethal - lifespan is normal, the mind is not affected... Matt Roloff from the show Little People Big World has this form of dwarfism. Anyway - we'll wait and see what the doctors say.

So at the moment, I'm feeling pretty good about our chances of having a non-lethal form of the disease. From reading the blogs of mothers with babies who have died from this, their numbers seem so much worse than mine and they often had other complications as well, such as no amniotic fluid, or problems with the baby's internal organs. I'm feeling positive - although I know that I'm not a doctor. One fellow SD mum said to me in an email today, "It sounds like you have lots of reasons to be optimistic- most of the people I have talked to that had a poor outcomes got that news right away. It sounds like you will soon be researching on raising a little person." - it made my day!!

I know that even if we DO have a "little person" baby, we will be faced with other issues and obstacles. Maybe surgeries, braces (not on the teeth - the ones that go on their bones to try and set things in the right position), then the whole social aspect of things as well. But I just want this little one to live and be healthy!!

So I'm cautiously optimistic. I know these things are so hard to diagnose and sometimes a lethal diagnosis results in a healthy baby, and sometimes it's the other way around too. It seems to be one of those things that you can't really tell with 100% certainty until the baby gets here. But I'm still feeling good :)