Dwarfism: Disease, disability or just different?

I don't pretend to be an expert on the subject of dwarfism and skeletal dysplasias. I've just been thinking about this subject for a while. I'm part of a yahoo group called "Parents of Little People" and these issues are some that they have recently been talking about. I'm not even yet a parent of a little person so obviously my experience is pretty limited but since I've been thinking about it, I figured why not write about it? 

Many parents of little people seem to take offense to comments like "What's wrong with your child?" or "isn't it sad that he has that disease" etc. They say that their child is perfect the way they are and that instead of wanting to change the child, more effort needs to be focused into changing society to be accepting towards people who are different. There are things like extended limb lengthening surgery that can add up to a foot onto a person's height and while some people with dwarfism are pursuing the surgery as an option to help them become more "average height", most of the dwarfism community seems to be quite anti-surgery as the costs, risks and pain of the surgery are high and they can outweigh the benefits. 

Back to the original topic though, is dwarfism a disease, disability or just a difference? I kind of think that in some ways it's all three, depending on what aspect that you're looking at. 

A disease is anything in the body that doesn't function "normally". And ultimately, all forms of dwarfism are that. In proportional dwarfism, the pituitary gland doesn't release enough growth hormone which results in stunted growth. In other forms of dwarfism, there are other mutations etc that lead to the bones growing abnormally. Pretty much all forms of dwarfism come with their share of serious health risks, from things like hydrocephalus to sleep apnea, mobility problems and severe curvatures of the spine. I feel that "disease" deals a bit more with the physical aspect of a condition whereas "disability" describes more the social aspect of a condition (I don't know if that's really correct, or just my personal interpretation of it) and I do know that some people with dwarfism have very few serious health concerns associated with their condition - so I can understand why they may shy away from the term "disease" when physically they can function as well as someone without dwarfism. But I do think that in general, these conditions ARE diseases in the strictest sense of the word. I hope and pray that our daughter has as few health complications from her conditions as possible though!

Is dwarfism a disability? Again some people with dwarfism who can function as well as others without dwarfism do not like to be considered "disabled". Probably no one likes to be considered "disabled" though - but in reality, there are aspects of dwarfism that do fit the definition of disability. Their physical condition can impede their physical ability to do certain things since the world is set up for people who are a foot or two taller than them. On the simplest level, they may need a stepladder to do things that 95% of the population can do standing on their feet. They can drive, but the car needs to be adapted to them with extension pedals etc. The sad thing about the issue is though, many times someone with dwarfism is not treated as an "equal" when it comes to things like applying for jobs etc. They may be passed by even though they are as qualified as everyone else. When it comes to the term "disability", I think it's important to note that most forms of dwarfism do have some level of physical impairment which can usually be dealt with by simple things like stepladders, those extension grabby things (what are they called anyway?) and just plain common sense - but when it comes to  the mind, dwarfism is not a disability in that area at all.

Are people with dwarfism just different to everyone else? I think that the real thing here is that this is how they want to be seen. Not as someone who is diseased. Not as someone who is disabled. But as someone who just happens to have brown hair while you have blond. Someone who doesn't wear glasses while you do. Someone who is a bit shorter than you but is completely your equal in every way.

Even though I do think that dwarfism does, in certain ways, fit into the category of "disease" and "disability", I understand why parents of little people don't like people putting their kids into those categories - it's because of the underlying things which say "your child is not normal" and "your child should be pitied" and "your child has such a hard life". I know that I get frustrated when I get those "vibes" from people. Yes, I do think that our child may have more obstacles to overcome, but I also believe that this will make her (and our whole family) stronger and that it will give us certain advantages through her differences as well. There are aspects to that which should be envied, not pitied.

There are people who are praying for us - but praying specifically for our child to be "normal". It upsets me to think that these people seem like they may not accept our daughter if she does not fit their perception of what "normal" is. 

There are scriptures that say "And which of you by worrying can add one cubit to his stature?" (Luke 12:25, and virtually repeated word for word in Matt 6:27). We can't add any height to our daughter. And the bible tells us clearly that it's God who forms us in the womb - so He's the one who made her the way she is.

The bible tells a story of a man called Zacchaeus who wanted to see Jesus - but he was so short that he needed to climb a tree to be able to see Him. The bible doesn't specifically say, but I personally think that Zacchaeus may have had dwarfism. It's not common for the bible to comment on people's height, so when it does it usually is significant. It's interesting to note that in his encounter with Jesus, Jesus never "healed" him or made him any taller. He just accepted Zacchaeus as he was, and changed his life in the process.

Likewise, I love and accept our daughter however she is - whether she ends up being six foot tall, or only 4 foot tall. My prayer for her is that a) she is healthy (something that can be achieved regardless of whether or not she has dwarfism or not) and b) that God will use her life for His glory (maybe this is something that can be achieved specifically through her having dwarfism - I'll not limit God!). I hope and pray that all our family and friends can feel the same way about her.

Pediatrician Appointment

Yesterday I had my long day at the hospital for my prenatal appointment and the appointment with the pediatrician. I was out of the house by 8:30 to get to the hospital by 9:30 - then my tedious prenatal appointment took until 11:30, during which time I actually saw a doctor for maybe 5-10 minutes. The rest of the time was just waiting for the slow cogs of the public health system to turn ;) I did manage to persuade the doctor though that I didn't "need" to come back in 2 weeks for another prenatal check up and would prefer to come back in 3 weeks (when I'll be 39 weeks pregnant) instead so at least I don't have to go through that so soon. When I was pregnant with Lana, I did these prenatal check ups at the Maternal Health Clinic 2 minutes from my house - and things there seemed to happen a bit faster as well. But because this is a more complicated pregnancy, I must go to the hospital instead. Although I don't really understand why because all the complications are with the baby, not with me.

Fortunately for me (not so for her), a friend of mine who lives 5 minutes from the hospital broke her foot a couple of weeks ago so she was off work - so at least I could go visit her and have lunch with her in between 11:30 and 2 when my pediatrician's appointment was scheduled.

At 2 I was back at the hospital for my next appointment - and I actually had to go and get admitted to the hospital for that appointment, although I never got given a bed or even got to wear that wrist bracelet they print up - I was actually only there for an hour. 

It was really good to be able to meet with the pediatrician and talk with him about his expectations of what would happen after the birth of our baby. When she is born, the most immediate concern will be her breathing. Her ribs are still slightly restricted but it's impossible to tell before birth exactly how well she will be able to breath. If when she is born, her breathing is very affected, she will need to be immediately rushed to the NICU and we won't have any time with her in the delivery room. She may need to be intubated or put on oxygen to help with her breathing. However if her breathing is pretty stable, she will be allowed to stay with us in the delivery room for about an hour or so, during which time we can try to breastfeed or just cuddle and get used to each other a bit. Obviously we're hoping that her breathing is stable at birth! 

Regardless of whether or not her breathing is stable though, she will need to spend probably at least 1-2 days in NICU/special care for observation and tests. The pediatric team will be looking after her most of the time but she will also have an orthopedist (bone doctor) who will do a lot of the x rays etc. Her feet are still appearing to be mildly clubbed so most probably pretty much from birth, she will need to have her feet splinted/put in casts to try and mould the feet back into a better position. This is usually done pretty soon after birth because the tendons and muscles are more relaxed then and can be manipulated easier.

The good thing is that the pediatrician does expect for her to be relatively stable and he expects that she most probably will only need to be in the hospital for less than a week. Of course all that depends on her condition when she is born - but it's still a nicer alternative than what we heard earlier in the pregnancy. Then the doctors couldn't even assure us that we would be bringing her home at all.

From the ultrasound, the doctor estimated her weight to be around 2.2kg or 4.8lb - which is still on the small side (average for 36 weeks is 2.6kg/5.8lb). I don't put too much trust in the accuracy of weight measured by ultrasound though - particularly in situations like this where the baby is not proportioned the same as an average baby. But hopefully she puts on a bit more weight before she is born - because generally speaking, larger babies at birth are healthier. I know that NICU often has "target weights" at which they will release a baby - and if a baby is small, even if everything else is looking ok, they will sometimes keep the baby in for a bit longer until they reach their "target weight".

I asked the pediatrician how often they had cases like this at their hospital. The hospital that I am going to is the one hospital in Hong Kong that has a great NICU and also specialises in high risk pregnancies, and the private hospitals would not accept cases as complicated as this - so pretty much, this hospital is where 90+% of these kinds of cases in Hong Kong would end up. The pediatrician said that they have milder cases of this kind of thing maybe 1-2 times a year (maybe something like Achondroplasia, the most common form of dwarfism) - but in our case, the limb shortening is much more severe. I think that this is a once in a few years (or even less than that) kind of situation for them. We're somewhat celebrities over there and a lot of our doctors appointments will have all kinds of interns at them, because it is not often that they have the chance to learn about this kind of situation.

This was our last appointment for an ultrasound, and our last appointment with the prenatal diagnostic clinic. Everything else now is just "wait and see when the baby is born". I'm 36 weeks today and have another 4 weeks until my due date. Lana came 4 days early and I'm really hoping that this one comes a bit early too. Maybe she can come on the date of my next prenatal appointment so I don't need to go to that ;)

A few prayer points for the last couple of weeks:

• Please pray that when our daughter is born, that her breathing will be stable and that she won't be in any immediate danger. Pray that she surprises the doctors by how healthy she is and is able to leave the NICU quickly
• Please continue to pray that she doesn't have a cleft palate - it's one complication that I'd rather not deal with. It would make breastfeeding (and feeding in general) so much easier if we don't need to worry about that - and it will mean one less surgery down the road
• Please pray for me - I am preparing myself that I almost definitely will need to be separated from her at birth. I know that medically, it is in her best interest but that doesn't necessarily make it easier for me. I'm not looking forward to that. I'll be separated from BOTH my girls and I'm not looking forward to being separated from Lana either.

I'm really glad that this pregnancy is coming to an end - it has been a long, hard, emotional pregnancy and I'm ready for our little one to be here. I want to start our life together as a family of four :) Even so, little one, come quickly :)

Pediatrician Appointment scheduled

I got a call today from one of the nurses at the hospital where we're delivering the baby - they have scheduled an appointment with the pediatrician so that he can see the baby (on ultrasound) before she's born and they can be prepared for her birth, as well as us having a greater knowledge of what is likely to happen after she is born as well. The appointment is scheduled for next Tuesday - the 29th. 

Unlike the geneticist who will be involved in finding and confirming a diagnosis for our daughter, the pediatrician will be involved in her care immediately from birth. If she has do go to NICU (something that our obgyn said was almost definite), he will be the one supervising her care for her first few days. He probably will also be the one who will be ordering the x rays and blood tests that she will need.

I'm looking forward to being able to prepare ourselves for what is likely to happen once she is born. When Lana was born, she needed to go to Special Care for observation for about 12 hours or so and I was completely unprepared for it and found it extremely difficult as a new, first time mum. Everything happened so fast that I wasn't really able to ask questions and really understand what was going on at the time - and I was still recovering from the childbirth as well (AND it was past midnight by that time) so I was encouraged to go to my ward and sleep while my newborn was placed on a different floor to me.

I think that with Lana's situation, if I had been able to know about it in advance, it wouldn't have been as hard on me as it was. So I'm really grateful that I will be able to talk with the pediatrician (and not just the nursing staff who often convey messages between the patients and the doctors) and get a better idea of what to expect once our little one gets here :)

The annoying thing is though - on Tuesday, I've got a prenatal appointment at the hospital at 9:30am, then I've got this appointment there at 2pm. The hospital is quite far from my house - it takes an hour to get there by public transport - so there's not really any point in coming back home. So I'm going to be at the hospital pretty much the entire day - something I'm not looking forward to! But I guess it's good practice for when the baby is born...

5 weeks today til my due date!

All about Diastrophic Dysplasia

I was talking to my brother the other day and he said to me "You should post more information on your blog about Diastrophic Dysplasia so that people can understand more exactly what it is" - so that's what I'm going to do in this post.

There are a lot of great resources on the web that have helped me to learn about DD and what it is. I'm going to add some of the most helpful of them to my resources page so if you want more detailed information, you can read them. Another great resource has been blogs of other people - my favourite is probably that of little Grant. Grant is about the same age as Lana and has Diastrophic Dysplasia. His mum has been such a support to me since I first emailed her a few months ago and I'm so grateful for her!! 

So to be simple, Diastrophic Dysplasia is a type of dwarfism. Apparently the third most common non-lethal type. The rate of occurrence is 1 in 500,000 births. The term "diastrophic" means "twisted" and it refers to how in this form of dwarfism, there's a lot of "twisting" of the bones and joints. Things like scoliosis and other curvatures of the spine, also quite frequently dislocations are involved at the hips, elbows or shoulders. One very typical feature is the hitch hiker's thumb. It was this feature that initially caused me to think that maybe our girl had DD. Below is a photo of a newborn with DD's hand, next to our ultrasound photo from 17 weeks.

Other complications involve clubbed feet - or feet where the heels cannot be placed on the floor when standing. This can range in severity and from the ultrasound, it doesn't appear to be a serious concern in our daughter's case. Below is a picture of typical club feet.

Another very typical feature is cauliflower ears - in about 85% of cases, when the baby is just a few weeks old, the ears will begin to swell and if left untreated, they will end up scarred and misshapen. The current school of thought is to use compression bandages on the ears for a couple of weeks until the swelling subsides, and the result when healed will be much less scarred.

Around 50% of babies with DD will have a cleft palate. We tried to look for one in our baby on the ultrasound but it was not visible. We're praying that she will not have a cleft palate as that can complicate breastfeeding.

As the child ages, the joints degenerate faster than usual and mobility can become a problem. Many adults with DD need to use some form of aid for walking - whether a wheelchair, crutches, or a walking frame. 

There will be physical delays for a child with DD, although mentally the child is completely normal. Things like surgeries or foot/leg/hip casts can further delay these milestones.

Here are some facts about DD:

• Average newborn length is either 33cm or 42cm depending on which website I believe ;) 
• Average adult height is around 118cm but can vary greatly
• The most well-known person with DD is probably Matt Roloff from "Little People Big World" (pictured to the right)
• DD has a much higher occurrence in Finland - there, the rate is 1 in 30,000 births as opposed to 1 in 500,000 in the US. It's estimated that up to 2% of Finland's population are carriers of the DD gene.

I was going to post some pictures of people with DD but for copyright reasons I can't post them on this blog. This site has some wonderful pictures of people of all ages with Diastrophic Dysplasia so if you like, you can go check it out. It's a wonderful site with lots of information and has been excellent in helping me to understand this condition better.

I hope this helps to explain a bit better the most likely condition that our daughter has. We'll have to wait and see if it is or not - but there's never any harm in learning more about things like this. I know that regardless of what happens, I've learnt a lot from this journey. A lot about myself and about other people - and although it's been difficult, I'm thankful for that opportunity.

Geneticist Appointment

Today we had our appointment with the geneticist - and it went much as expected really.

The geneticist agreed with my "guess" that it looked most like Diastrophic Dysplasia - and that would be his first suspicion. However we won't be able to know for sure until after the baby is born.

When the baby is born, the first thing that they will do in order to get a diagnosis is to fully examine the baby. Then they will take x-rays of her entire body. This should be able to get us a fairly good idea of whether or not it is DD or if it is something else. They will also collect some of the cord blood (so they don't need to take the blood from the newborn) to do the genetic tests which will say whether or not she has the gene mutations that are indicative of DD. These tests will take up to 6 months to give us a definite answer. 

Diastrophic Dysplasia is usually inherited - which means that both the mother and father are usually carriers. So if we do get a positive diagnosis for this condition, Bernard and I will also need to have genetic testing done to see whether we are carriers (if the baby has it though, it's generally pretty probable that both parents are carriers - although there are exceptions to that rule). If we both are carriers, the chances of a future child also having the same genetic disease are 1 in 4. This may affect our future plans to have more children (we'd like more), but we haven't really talked about that yet. We'll cross that bridge if/when we get to it. 

The good thing is that there are no obvious fractures on any of the bones (we went over all the limbs and all the ribs), and they appear to be well ossified (hard rather than soft/brittle). This suggests that it may not be Osteogenesis Imperfecta (where the bones are brittle and break easily) and I think I should be able to have a natural birth and shouldn't need a caesarean. Particularly now that the little one is head down!

The other good thing is that the geneticist agrees that it appears to be non-lethal - although we're not completely in the clear yet, but I'm happy with the news regardless. This news means that we aren't going to be planning a funeral just now :)

The visit with the doctor today gave me a bit more confidence in the medical system here in Hong Kong. The doctor who we saw (and will see again after the bub is born) was very knowledgeable about these issues - he's really the first doctor who could answer all of my questions satisfactorily.

So we're still really in the "wait and see" mode - but I do feel quite confident that probably we are looking at DD. It was the first thing that "fit" when I was trying to diagnose it myself  way back here in February - and to have a doctor's opinion confirming that's probably the most reasonable option (although not the only option) makes me think most probably, that will be the diagnosis. I've already done quite a bit of research and I'm planning on doing more. I know that there's still a chance that it's not DD but a bit of research never hurt anyone - and I want to be as prepared as possible to be the best mother I can be for our little girl :)

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!!

What if...?

I've always been the kind of person who has thought through all the possible outcomes to a situation and worked through them, even when they're not likely to happen. I remember saying to my husband 5 years ago before we got married "If anything ever happens to my parents, I want my (then) 7 year old sister to live with us". Bernard was flabbergasted that I even had THOUGHT of the situation in the first place as it's not something that is particularly likely. Whenever we talk about anything regarding death or bad things happening, it's because I brought it up in a "What would you do if..." kind of question. Bernard rarely knows how to answer because he hasn't really thought about it.

The situation we are in at the moment lends itself to soooo many different "what if" kinds of questions that my mind is working overtime trying to process it all. Usually right at bed time when I'm about to fall asleep. Most of the time, Bernard is already pretty much asleep and I whisper quietly "Baby, are you awake?" I hear a grunt and so proceed with my latest thought, "What are we going to do if..." - then after he says "I don't know, I haven't thought about it", I fall asleep and leave him awake frustrated at me disturbing his sleep (this isn't a new thing either, I've been doing that to him our entire married life!!)

Most of my questions lead to more questions and I know that it's impossible to know the answer to all of them before the baby is born, or at least, diagnosed... but just thinking about it helps me to prepare myself for whatever is to come.

Best case scenario, what if the baby lives and is perfectly normal? I know that medically it's unlikely - however I also know that stranger things have happened and so we can't completely rule out the possibility. Would we be glad that we found out that there may have been a problem, even if it turned out to be wrong? Hard question. But I like to think that in this situation, we would be so thankful with the blessing of life and health that we wouldn't be bothered being mad about a wrong diagnosis. Yes it's caused extra stress throughout the pregnancy, but it's also caused a greater awareness for these issues - I had never really known about skeletal dysplasia before this pregnancy, and it's also given me a greater appreciation for good health - particularly the health of our first born daughter. 

Worst case scenario, what if the baby doesn't make it? Will we have to go through all the labour and delivery and funeral in a country which we don't really call "home" without our closest friends and family around? Would we go back to Australia for the birth of the bub if we had a lethal diagnosis? Would that be in the best interest of the baby? Would the doctors even LET me travel back since I'm now a "high risk pregnancy"? Would we have the baby here in Hong Kong and then go back to Australia for the funeral? So many questions but I don't really want to even start looking into the answers to those unless we get the dreaded news. I think that while it may be helpful for me to think of the options, answering these questions would be particularly stressful and not something I want to do unless absolutely necessary. 

The "middle ground" scenario - what if the baby lives but has a form of dwarfism that she has to live with for the rest of her life? Is Hong Kong the best place to raise a child with disabilities? I've always said that it's not - and even before I was pregnant, I told my husband (in one of my "what if" moments), "If we ever have a baby with special needs, I'd want to move back to Australia right away". Now that it's actually a likely outcome, I don't know if it is the best option. I guess I need to really look into the medical system over here AND in Australia and see what each offers. From my online research, most of the specialist doctors are in the US - would we want/need to travel there for some of our medical advice? There's no doubt in my mind that socially, Australia is a much better place than Hong Kong for people with special needs and disabilities.

From reading other peoples blogs, I know that some forms of dwarfism (particularly Diastrophic Dysplasia, which is my suspicion) come with a whole lot of medical issues. Pretty much from birth, most children need to have some form of leg casts and braces to try and correct clubfeet. Many children also are born with cleft lips/palates which may need surgery to correct. Some babies also need braces or casts on their hands to correct the hitchhikers thumbs (which it seems like our baby has). Since this is such a rare thing (I think for DD, it's something like 1 in 500,000), do the doctors here have the experience to deal with these issues? Or the doctors in Australia, are they any better? I really have no idea of the answers to these questions. I just want what's best for my child.

I do know that if the baby lives and does have a non-lethal SD, more than anything I will be glad that she made it. And I would rise to the challenge of meeting her needs and raising her to the best of my ability. I sometimes feel completely inadequate for the challenge. 

When we first got the SD diagnosis, I remember crying with Bernard and saying "I'm not strong enough for this" - but I realise that really, no one is strong enough. No one thinks that they are going to have to go through something like this - but having to face it brings something out in you and you realise "I can do this. Not because I want to, but because I have to."

At the moment, everything feels so uncertain, there are more questions than answers. But I know that one by one, over the next less than 5 months until the baby is born, we will have to answer those questions. Not all of them, because I know that each ultrasound will give us more information and let us know what the likely outcomes are. I know that things probably won't be "certain" until the little one is here and we know more clearly what's going on.

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 :)