Friday, May 28, 2010

But a Vapour

James 4:14 
For what is your life? 
It is even a vapour, 
that appeareth for a little time, 
and then vanisheth away. 

Mortality - this is the common fate of all mankind. We may not have much else in common, but we all share the same destiny - the grave.

It really hit me last year when Heather lost her little girl. I saw that little coffin - not that much larger than a shoe box really - and thought "Babies shouldn't die". 

I never thought that I would have to face the same scary news - that OUR baby might die. Thankfully now, her odds are looking much better. But I don't know if there's anything that would scare a pregnant lady more than knowing that her child may not survive. 

All of this made me think for the first time of the mortality of children. I never really experienced that before - most of the people in my life who had died were either old or sick. One of my mother's best friends died  unexpectedly when she was 39 (I was about 14 at the time), and I also knew a couple of people who died of cancer before they should have (around ages 25-40).

This past week though, I've been faced with the mortality of someone my own age. One of my friends from home just died unexpectedly in his sleep. He was just a month past his 30th birthday. I wasn't particularly close to him lately - since we moved to Hong Kong three and a half years ago, I had seen him a few times when I was back home, but I didn't stay in touch with him or anything. But regardless, he was a big part of my life when I was younger. I had a crush on him for a while when I was 18 or so. He was kind of a "big brother" to the girls in the youth group at the time. He was one of the best guys you'd ever meet - so sincere. A bit rough around the edges but that only added to the charm. He talk his way out of anything the cops pulled him over for - I don't know how, but he seemed to ALWAYS get pulled over but NEVER get a ticket.

I'm thinking of his family and friends at this time. His sister was one of my bridesmaids and some of his closest friends still go to my home church in Australia. I know it must be affecting them even more than it is me. I wish that I could be back home to remember him with them. To laugh at the memories of a great guy, to cry with them because I'm going to miss him. I may not have been one of his closest friends - but he did make a difference in my life and he was a big part of a particular time of my life. 

I think with him dying, it has made me realise even more that we are all mortal and none of us are guaranteed tomorrow. So then we need to cherish each day that we do have. Hug the people you love, tell them you appreciate them. Live life with no regrets. Life truly is a vapour.

Sunday, May 23, 2010

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.

Monday, May 17, 2010

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 :)

Friday, May 14, 2010

Geneticist appointment scheduled

I got a call today around 4pm asking me to come back to the public hospital on Monday morning for my appointment with the geneticist. I was expecting to have a bit more notice than that - but I'm looking forward to hopefully getting a bit more information. I'm not sure yet whether he will go over my ultrasound images that they've collected over my past 4 ultrasounds or whether we'll be doing more ultrasounds there and then. The prenatal diagnostic specialist mentioned it could be either way. 

I don't have my hopes set on actually getting a confirmed diagnosis at this stage - I know that really they will need to do more tests once the baby is born to know for sure since we turned down the amniocentesis (which may not have given us a diagnosis anyway). It will be nice though to get his thoughts and maybe to have his opinion on what his suspicions are. I want to be as prepared as possible for the birth of this little one. 

I'm still feeling great following our appointment last Monday - hopefully the geneticist will confirm that the baby's condition appears to be non-lethal. :) 

Wednesday, May 12, 2010

What else could go wrong?

That's how I was feeling on Sunday night. It seemed like everything that could go wrong was going wrong! All non-pregnancy related though, thankfully...

To start with, late last week we discovered that the unusual aroma coming from our wardrobe was mold. We didn't notice it earlier, before we put in all our clothes. We only noticed it after 90% of our clothes were in the wardrobe and I'd asked Bernard to take out a couple of shelves for me so I could have some long hanging space (the angle he was looking at, as well as the torch he was using to be able to see under the shelf made it very obvious!). Further inspection showed that our entire wardrobe in the master bedroom as well as two sets of drawers in our spare room were both completely infested with the disgusting green growth. And mold is no good for children (like Lana), or pregnant ladies (like myself), or asthmatics (like Bernard) so we need to get it dealt with as soon as possible!!

In order to completely deal with the problem, we need to do a few things. First, remove EVERYTHING from the wardrobe/drawers and rewash it (great, that also means re-ironing it as well!!). Second, completely wash down the inside of the wardrobe/drawers to remove all the mold, and third wash the entire thing down again with bleach or alcohol to kill any remaining mold and prevent it from re-growing. 

The bright side to this situation was that on Thursday I found out that all the paperwork for our helper would be complete by today actually, and so I was thinking we may be able to have her come as early as the 13th (tomorrow) and that way she'd be able to help me to deal with the problem. 

However, when we contacted her to set a date, we found out that she is busy until the 23rd preparing to leave - so now she won't be arriving until the 26th, two more weeks away!! Some other employers probably would push for their helpers to fit into their schedule rather than working around the helpers' requests but I figure that she's the one making the move overseas to help our family, the least I can do is be understanding of her needs and ultimately, it's only 2 weeks (it's 2 weeks less pay that we need to give her as well, along with one less public holiday!) Unfortunately though, that leaves us to deal with the bulk of the mold problem!

In addition to this, Lana's new single bed mattress arrived last Tuesday so we decided to set it up on the floor and start getting her used to sleeping in a "big girl bed". We wanted to teach her this before the baby arrived and took over her cot. The first night (last Wednesday) went like a dream. We laid her down, she closed her eyes and didn't get up until morning - when she yelled out for us to come and get her. Her first nap in it went just as smooth - although when she woke up, she figured out that she could get herself out of bed and come and say hi.

It was all downhill from there. The 2nd night in her big girl bed, we had to sit with her and keep putting her back in bed because she would NOT stay there. She finally ended up falling asleep 2 1/2 hours after her regular bed time. The 3rd night was slightly better - she fell asleep after 1 1/2 hours, and the 4th only took 45 minutes. Last night was particularly good - it was really only about 15-20 min and she didn't make too much of an effort to get out of bed.

Nap times have been a little more difficult - the first day, she was a dream - but the second day we ended up putting her back in her cot because it was not working and we had a birthday party that afternoon so we couldn't afford to spend 2 hours fighting with her to stay in her bed. A couple of days we've been out and so she napped in her stroller, and today it was 1 1/2 hours of testing each other's will power again. (Mummy won in the end!!)

I know that ultimately she needs sleep and she WILL learn to sleep in her big girl bed. I can see improvement already - although sometimes I think it's a step forward and then two steps back again - but we'll get there. In the meaning though it's so draining and tiring for us!! (hence I'm using her nap time now to blog rather than cleaning more of the mold away! Our wardrobe is nearly all done now, need to finish that and start on the drawers...)

So just when we felt like we were dealing with enough issues, on Sunday afternoon, our furniture was delivered. We had a wardrobe made for Lana and the baby's room, two wooden toy boxes to replace the cardboard/fabric kind that we had been using, the single bed for Lana, and a bunk bed with wardrobe/storage/desk underneath for our helper. They set it all up, it all looked great, then we went to put the mattresses down - and they didn't fit!!! All the furniture was custom made and we were sure that we had requested a particular size, however when we looked at the plans (which we had signed), the guy had written a different length for the beds! So the beds are 3 inches shorter than the mattresses. 

Fortunately Lana's bed has no foot board so the mattress can still fit on the bed, even if the end doesn't fit properly. But our helper's bed has a rail around all 4 sides so the mattress can't even go on the bed!! 

Thankfully, when we called the guy who did the plans, he admitted his mistake so they are fixing the furniture at no extra cost to us. They theoretically could have refused to do so since the measurements were clearly written on the plans that we signed - even though we had verbally expressed that we wanted the longer size. So I am very grateful that they are doing the honest thing and fixing the situation for us though.

In the mean time though, we have our helper's mattress propped up against a wall in our dining room since it has no where else to go - and we have all the storage underneath Lana's bed which we can't really start to use since they are going to come and replace the bed for us. 

Maybe it's a good thing that our helper won't get here until the 26th because her bed should be ready by then - and also we should have dealt with the mold situation by then as well and we'll have our stuff put back in the wardrobes rather than thrown all over the house. I can assure you that she's going to have the biggest ironing pile she's ever seen in her life though!!

After hearing a good report at our ultrasound on Monday though, things started looking up. The wardrobe is slowly getting back to a state where we feel comfortable putting our clothes back in it (maybe once or twice over with bleach or alcohol just to get rid of the few remaining spots).  All the clothes have been washed, even if they have not been ironed. The beds will be replaced within about a week or so. Lana's learning to sleep in her big girl bed, slowly but surely... our helper should be here in 2 weeks time. Surely we can get back into "normal life" sometime soon and leave this chaos behind :)

Monday, May 10, 2010

Oh and one more thing...

I forgot this in my previous post - but the bub is now head down!! WOOHOOO - which means that my chances of needing a C section are lower. There still is a chance that the baby might turn back around, or a chance that we find that her condition necessitates a C section (such as if she does have, or is likely to have Osteogenesis Imperfecta) - but in most other situations, we'll be able to deliver naturally - which means a lot shorter recovery time for me. So happy for that bit of good news too!!

"Probably non-lethal"

Today, we went back to the public hospital for another scan. I'm now 28 weeks and the last scan was 4 weeks ago. We got to the scan and found out that our previous doctor has moved to a different hospital so we had a new doctor who didn't know anything about our case - although she had obviously read our file in advance. After a small amount of apprehension, my mind was put to ease when I found that she was by far the best doctor we've seen since our regular obgyn (who is also great) transferred us to someone else since this was "outside his area of expertise". I googled her once I got home and found that she's actually the department head for the Prenatal Diagnostic group, so no wonder she's so good :) She was both caring, but still forthcoming about her medical opinion about our baby. 

At the beginning of the scan, we started by just talking about the situation, about what I specifically wanted to look for, about what a possible diagnosis was. She was very attentive and she acknowledged that we had done a lot of research about the situation!! 

So here are the results from our scan this time. Again, being in the public hospital, we didn't get pictures to bring home so I've got nothing to show, I'll just explain the situation.

Limbs: the limbs are all still behind, now all the bones are 7-8 weeks behind. Some of the bones do not appear to be straight, but they don't appear to have been fractured or anything like that which is good news. I want to be able to rule out a condition called "Osteogenesis Imperfecta" or brittle bone disease because if the baby has this condition, a vaginal delivery could potentially be harmful for her. The doctor said that she does not think that it is the most severe form of OI, but she could not rule it out completely at the moment.

Head size is normal, body size is normal, no problems with any of the internal organs, no fluid on the brain, nothing to worry about there. 

Rib to abdomen ratio: this is the measurement I've been keeping my eye on the most - and it's better today! Up to 0.8 which is in the "normal" range! This means that the lungs do have quite a bit of room to grow and show be able to function normally once the baby is born. 

At the end of the scan, I asked the doctor what she thought some of the likely causes might be, and she said that it was probably not Achondroplasia (the most common form of non-lethal dwarfism - I already suspected that though) but she did say the words I've been waiting for hear a doctor say for the past 3-4 months now - she said "It's probably non-lethal"!! 

I was so happy to hear that.  I mean since the beginning of this journey, when I researched these issues, it really seemed to me like medically, it was most likely non-lethal - and even when our previous doctor told me that he was leaning towards a lethal diagnosis, I didn't really believe that he was right. But it's so reassuring to hear a medical doctor look at our scans and come to that conclusion for herself!

I asked the doctor whether she thought it would be beneficial to meet with a dwarfism specialist/geneticist before the baby is born, and she is now going to set up an appointment for me with him. He should be able to provide us with more information about a specific diagnosis and also what to expect after the baby is born. Hopefully we'll be able to see him soon.

This visit today has really raised my hopes - not only of the situation of our child, but also of the medical system here in Hong Kong. I'm looking forward to being able to talk with the geneticist about it and getting his opinion on it as well, and I'm looking forward to once this bub is born and being able to settling in at home with her. I know it's still a long road but I'm so relieved that most likely, we will be able to bring our little one home.

Thursday, May 6, 2010

Little People

In all my life, I don't think I've ever had anything to do with someone who has dwarfism, or "Little People" as they often like to be called. I've never met anyone, talked to them, anything. I've passed them in the street and noticed their short stature, but that's about it. It's only now that my daughter has been diagnosed with Skeletal Dysplasia that I've been learning more about the subject. If our daughter does pull through all this (and we're praying and believing that she will), she will most likely be a "little person" or dwarf as most people would say. (note - most people in the little people community find the term "midget" very offensive, so I won't use that term.)

Most people with dwarfism (I think about 80%) are born to parents of average height - that probably means that a whole lot of parents are just like me, thrust into this situation with little exposure to this disease. It also means that this situation is probably just as likely to happen to you (if you're not done having kids yet) as it was to me.

The most common cause of dwarfism is Achondroplasia. This disease accounts for 60-70% of cases. The average height of an adult lady with achondroplasia is about 4"1' (the same height as an average 7-8 year old girl). I don't think that our daughter has achondroplasia because usually it isn't able to be seen on ultrasound until around 25-30+ weeks of pregnancy, but our daughter's condition was evident much earlier at 17 weeks of pregnancy. I still think that most probably our daughter has Diastrophic Dysplasia - which is the third most common cause of dwarfism. The average height of an adult with DD is around 112 cm, or 44 inches, the height of an average 5.5 year old girl. Some of her features suggest that she may have a more mild case of it though. We should get a diagnosis once she is born.

I've been considering the role of little people in Hollywood and popular entertainment - and it seems like often little people are left to play the roles of leprechauns, or oompa loompas, or the angry dwarf that goes around kicking people in the shins. I don't think I have seen a movie where there was a little person who actually played an "everyday life" kind of a role. My brother tells me that there was a TV show which had a lawyer who was a dwarf - but I've never seen it. There are some reality TV shows that have included people with dwarfism, "Little people big world" is all about a family affected by dwarfism, there was Chandra on "The Amazing Race" (one of my favourite shows ever!!), there's another show called "The little couple" but I've never seen that either. You see a lot of other disabilities being used in various situations in Hollywood - there have been deaf actors and actresses, and compelling stories about their lives. People in wheelchairs, people with Autism and other similar conditions. I don't know why little people are still primarily in Hollywood to be laughed at. It doesn't seem very politically correct to me!!

Many people with dwarfism do not consider their short stature to be a disability, rather in the words of the opening credits of "Little People Big World", "we can do anything an average height person can; just in a different way".Yes there are obstacles of course - but a lot of them are more mental and social rather than physical. There are many people with dwarfism who live very successful, fulfilling lives. Some are doctors, some are lawyers - there is no restricting what they are able to do as their minds and souls are not affected by the condition which limits their bodies.

The next time I see a little person in the street, part of me wants to say to them "Excuse me, I noticed you're of short stature. My daughter is expected to have a form of dwarfism. Do you mind if I ask you a few questions? I hope I'm not being rude..."

Wednesday, May 5, 2010

Resources Page

I figured out how to add pages and I've added a resource page here. On it, I've added the links to a few sites that have helped me through this pregnancy journey so far. I have found a lot of support and answers to my questions online and wish to share it with anyone in a similar situation to me. There are many many resources available - but I've just selected the ones that I found most helpful.

Monday, May 3, 2010

The things doctors say...

I had a prenatal check up last week. It was just a check up for me, no ultrasound or anything like that. Because I'm going to a hospital which is the largest teaching hospital in Hong Kong, I had some student doctors in the process. It's possible to say that you don't want student doctors but I figure, they've gotta learn with someone as the patient - might as well be me! (as long as they're not cutting me open or anything like that!). One student doctor was going over my medical history with me, as a kind of "pre-consulatation". She consulted with me, then wrote down a bunch of information and then reported back to the doctor I was about to see. She was remarkably sensitive and a couple of times, when she saw I had a tear in my eye, she passed me a tissue and said "I'm sorry if my questions are causing you any pain". 

Fast forward half an hour and I had a consultation with the doctor. You would expect the doctor to be more experienced, more sensitive, more knowledgeable about the issues surrounding these kinds of pregnancies. And as a doctor, she wasn't a bad doctor - but one question she asked me completely floored me. She asked "So, you want to see your baby grow up?"

Seriously now - what kind of a question is that? And what kind of an answer am I meant to give to such a question? "No, I don't want to see her grow up" - duh. I think she was trying to ask in a different way "So, you have decided against termination?" but in a softer kind of a way but the way she worded it was completely wrong. 

In another situation, today I had to take Lana for her 18 month immunisations (a couple of weeks late, but she was sick when we were meant to do them). I quite like our family doctor. She is close to us, she is great with kids, she's pretty easy to get in to see, she's not ridiculously overpriced like most of the doctors that expats in Hong Kong see. We found her from our insurance company and when we see her, we just need to swipe our insurance card and don't need to pay anything for the consultation or for any medication that we need. I've only had one time in the past that I haven't been happy with her and that was when Lana was 10 months old and I was having breastfeeding issues. I found her to be not very knowledgeable about breastfeeding and felt like she gave me wrong medical advice in that situation. I do forgive her for it though because I understand that breastfeeding is not very popular in Hong Kong culture and so most doctors over here (apart from the expensive expat doctors) aren't that supportive or knowledgeable about it.

I thought that I would mention the issues we were having in this pregnancy just to a) prepare/inform her about it, and b) ask whether she had any experience in something so rare. I mentioned that this baby was diagnosed with skeletal dysplasia at 17 weeks and what was her first response? "And they let you continue with the pregnancy?"

Well first of all, no one can force you to terminate, no matter what the situation is. Maybe if I was unconscious and they couldn't get in touch with my family and it was either take the baby or else the baby and I would definitely die, maybe then they would be able to act without consent - but apart from those extreme situations, termination is always the choice of the parents, not the choice of the doctors. And secondly, there is currently no medical reason to believe that our child will not be able to live til she is 80 and have a normal life. Sure that chances are lower, and the other medical issues are greater. But there's nothing saying that she definitely will NOT be able to do that.

I am very aware that our decision is not the "normal decision" in this culture and this situation. I haven't asked the doctor specifically (I may do that at our next ultrasound) but I would guess that the vast majority of people here in Hong Kong would have made the decision to terminate is they were in our situation. You can read my thoughts about that here.

I guess I need to expect that people will not know how to respond to our different decision, even doctors obviously do not know how to respond to it. I wish though that there was a course that doctors had to take called "What not to say" or "How to be sensitive to your patients difficult situations" - it seems that quite a few doctors are unaware of these things. 

The first doctor with the public hospital, I probably will never see her again since every time I have a prenatal check up, I see a different doctor (although I do have one doctor who does all the ultrasounds, but he only checks on the baby - not on my blood pressure and weight and whether or not I have protein or sugar in my urine). With our family doctor, I'm not going to stop seeing her based on her insensitivity in this situation. I will even bring our daughter to her once she's born and hopefully she'll be open to learning more about our daughter's condition because despite the difference in culture, I do think she's a good doctor.