Hands and Feet

I mentioned in a previous post that the occupational therapist was thinking of splinting Maddy's hands and feet. Diastrophic Dysplasia has a huge impact on the shape of the hands and feet of the people that it affects. One of the biggest tell tale signs of DD is what's called the "hitch hiker thumb" and it was this that first made me suspect that Maddy had DD back in February - we could see the shape of the hand on the ultrasound and it was very typically DD. 

In addition to the hitch hikers thumb, the middle joints of the fingers are often fused, which means that making a fist is impossible. The fingers can still bend at the other two joints though - and although you would think that this would make the hands pretty difficult to use, people with DD learn to adapt and do things in a different way. For example, they wouldn't be able to hold a pen in the conventional way - but they find other ways to hold a pen so that they are still able to write. 

Here are a few pictures of Maddy's hands:

I talked with the Physiotherapist the other day and she said that we will not be splinting the hands at the moment - my preference is that we don't splint them at all. People who have more experience with DD have told me that it doesn't offer any real benefits at the hands can function as they are and splinting can lead to other problems such as stiffness. I talked with the Physio about this, and she really hasn't had any experience with DD at all, but I think she at least listened to me. I know that we all just want what's best for Maddy.

Most people who have DD also have clubbed feet, ranging from mild to very severe. Most of them will need to have both splinting done at birth, as well as surgeries done when they're a little older. I personally don't think that Maddy's are particularly bad, comparing to photos that I've seen online - and the doctors don't seem to think they are that bad either because they don't want to splint them at all. I'm a little worried though, knowing that most babies DO need their feet splinted - so I don't want to be missing a problem only to find out later that we should have splinted now but no one pushed for it. 

Here are some pictures of Maddy's feet:

All baby toes are cute baby toes aren't they? You can notice that there is a pretty big gap between her big toe and her other toes. And also all her toes are not quite 100% straight. Her foot print looks a bit more slightly "C" shaped than another baby's would. And look at those chubby legs too!! I think it's cute that her diaper nearly comes to her knees too. When I see pictures of other newborns these days, they look kind of odd with their long arms and legs!!

This picture shows her "range of motion" - her feet can move to 90 degrees to her leg. Severely clubbed feet can't do that. To me it looks pretty good - but really I don't know exactly what to look for and would love the opinions of other DD mums!!

Another foot shot - in this one, you can really see the big gap between her big toe and the next toe. Also one thing I'm a little worried about is that her feet seem to bend more "outways", not completely flat to the floor, more like if she was walking on her toe and the arch of her foot, with the outside of the foot not touching the floor. I know that I'm completely over-analysing her feet - but like I said earlier, I just don't want to miss a problem because I didn't know what to look for, and then to regret not getting those issues treated earlier when she's older...

Anyway - in other "Maddy news", the plastic surgeon came to see her today with regard to the cleft palate repair. We will need to go and see him in about two months, and then he will follow up with her over the next year or so and hopefully that will be repaired when she is ready - I think usually around 12 months of age... 

Also apparently the results from the CT scan should be in tomorrow - fingers crossed!! It's about time too, I've been getting so impatient. I don't understand why everything takes so long. The ENT is anxious to clear Maddy's airways so hopefully her opinion won't take longer than a day or so, and double hopefully her opinion is that Maddy's airways are strong enough for her to not need the bronchoscopy and that she can start oral feedings with no risk her airways!! I'm so wanting our little girl to come home and I know that she's strong enough!! I'd love to have her home before she's a month old on Saturday, although I think that's probably pushing my luck a bit... 

Anyway - I'll just leave you with a few last pictures of our baby girl :)

Playing with her bunny rattle that Mummy bought when she was still pregnant :)

Sleeping like an angel :)

Genetics

Today, Bernard and I had an appointment to see the geneticist to discuss the results from our genetics tests. We already knew that we were both carriers, and that Maddy obviously inherited both of our "bad" genes and that match resulted in her having Diastrophic Dysplasia. What we didn't know were the specifics of it all.

It turns out that my mutation is the most common mutation for Diastrophic Dysplasia outside of the Finnish population. Diastrophic Dysplasia has a much higher rate of occurrence in Finland, but the Finnish population usually have one specific mutation that is not seen as frequently in non Finnish populations. Bernard, on the other hand, has a mutation that has never been reported in the literature before. 

It's funny, me being a bit of a Science-nerd took Genetics in university and was quite fascinated by it all. When Bernard and I started dating and then got engaged and married, I remember joking to someone (probably another nerd like myself!) "At least with marrying inter-culturally, I know that my chances of having any recessive genetic diseases are reduced!!" - and usually that is the case. A lot of genetic diseases have higher rates of occurrence in specific people groups, for example DD in the Finnish, and also Thalassemia is very common in Hong Kong and South Asia (in the Maldives, a whopping 16% of the population are carriers!), so when you marry inter-racially, your odds of carrying the same mutations as your spouse are lower than if you married someone of your own race.

The science-nerd in me actually got a bit fascinated and intrigued by the results of the genetic tests, particularly with Bernard having a previously unknown mutation. It is possible that for Bernard it may have been a spontaneous mutation, or he may have inherited his mutation from one of his parents. The geneticist also seemed to be "excited" by the results of the tests (if you can be "excited" by genetic diseases, that is) - and he, along with the head pediatrician, are going to write a paper for a scientific journal about Maddy's case.

If you were to guess whether or not Bernard and I were likely to be carriers for the same genetic disease, no one would guess that it would be likely. But it just so happens that Bernard's previously unknown mutation happens right on the same gene as the one for DD, which I'm a carrier of. Bernard's been joking that we've been "breaking the odds" and we really have. Some would look at it and say it was really bad luck - and in some ways maybe it was... but I still believe that there's some kind of plan and purpose in all of this, and especially now knowing how incredibly unlikely it was, it seems to me like it was too unlikely NOT to be part of God's plan somehow.

Three weeks old :)

Yesterday, it was three weeks since Maddy was born. It's a crazy thing to see her growing up in hospital. Already the changes in her are big. When she was first born, she was so sleepy all the time. Now a lot of days when we're there, she's really alert. She's also tracking things with her eyes more and more now, watching for movements and lights and colours. It was around this age that Lana started responding more to things, smiling and laughing. I wonder how many of these small developmental milestones Maddy will hit while she's in the hospital. Will we miss her first smiles and laughs? I hope it's not too much longer until we can bring her home.

The CT scan on Tuesday went smoothly, but we are still waiting for the results. The radiologist will take a look at the 2D scans and recompile them into a 3D picture of Maddy's airways for the ENT to assess. I'm trying to be patient with it all but I think the doctors are sick of me asking every day what the results are. If the ENT is satisfied with the stability of Maddy's airways, she will then begin the oral feedings and probably start to begin preparations to come home :) (fingers crossed!!)

The occupational therapist wants to begin the splinting of Maddy's feet and possibly her hands as well. Her feet to me don't seem particularly bad, they are slightly clubbed. But I guess it's better to deal with it now and to get that extra range of motion now and maybe it will help to prevent future surgeries etc... From what I've read though, most of the time with DD babies, they don't splint the hands even though the thumb is not in the normal position, and most of these children grow up to be able to use their hands as they are, even with the hitch hikers thumb. I don't know - I'll have to talk with the doctors more about that when they are wanting to go ahead with the splinting... I'm a bit concerned that splinting her hands will lead to more developmental delays like reaching/grabbing etc... but if the benefit is greater than the cost, I guess it will be worth it. I feel like I know so little about what is best for Maddy though, even though I've been trying to learn as much as I can... 

Tomorrow morning, Bernard and I have an appointment with the geneticist to discuss the results of the genetic testing. I already know that we are both carriers of the DD gene and that any future biological child will also have a one in four chance of also having DD like Maddy. I don't know what else he's going to discuss with us. Maybe which mutations we have, often there are mutations that are more serious or more severe. We also know that DD runs in both of our families now - so any of our siblings will have a one in two chance of also being a carrier of DD, any of our cousins will have (I think) a one in eight chance of being a carrier... But even with those odds, the chances of any of them marrying another carrier are remote so I don't know if it's even worth them getting the genetic tests done or not.

And in completely non-medical news, I've been wanting to process Maddy's Australian citizenship and passport - but they won't accept a photo with a feeding tube in! So we need to wait until Maddy has that removed before we can process it all. It makes me wonder what people do if they are continually on oxygen and need a passport photo taken. Do they take a big gulp of air and then take the tube away for the photo and hope they get a good picture fast? Or maybe people on oxygen don't want or need passports? I don't know - but unfortunately we have to wait to process all that. Hopefully we'll be able to do all that soon because we were wanting to get back to Australia in October, less than two months away - and all of this takes time to process... I hope we can still get back there then. If not then, we may go back over new year instead (when the weather is actually nicer - Summer is my favourite time of year!!) We'll have to wait and see what happens though...

Let's get this ball rolling!

After much frustration with the doctors not deciding which tests to run and what to run first, they finally had a meeting last Friday with the ENT, anesthetist and orthopedic doctors to decide the best way to proceed. They agreed to do a CT scan on Maddy's neck and use that to examine both the airways and also Maddy's cervical spine. The main benefit of the CT scan is that they don't need to hyperextend Maddy's neck as they would for a bronchoscopy, so they can get a "virtual bronchoscopy" with minimal risk. 

Today they went to schedule the CT scan and asked for an appointment within two weeks. The doctor told us that we should expect it to be right around two weeks but instead, she was able to get an appointment for tomorrow! So tomorrow at 10am she's having the scan. It is the safest option for right now but it's not entirely without risk. She will need to be sedated and will also need to be given some contrast intravenously before the scan, and she will need to fast for four hours before the procedure too. Please pray that it all goes smoothly!! If there are any complications they will cancel the appointment and reschedule.

The best result for the CT scan would be that both the ENT and the orthopedic doctors will be satisfied with the stability of both the cervical spine and also the airways, and obviously that's what we're hoping for. If that happens, most probably they will start trying to feed Maddy orally and she should be able to come home fairly soon. If the doctors are not satisfied with the results of the CT scan, we'll probably need to go ahead with other tests - most likely the bronchoscopy, in spite of the risks. I don't think that it should be necessary though given that Maddy is breathing quite well on her own - although she still does have a bit of the Stridor (the squeaky noises when she breaths).

I'm pretty happy that things are actually happening now. So much was depending on this one test that I was pretty frustrated that we were just in limbo waiting for it, and Maddy wasn't able to come home or start feeding orally or anything until we had the results of this test. We'll know the tentative results in the next couple of days and will be able to move on from there :)

Diagnosis Confirmed

We got the results back today from the genetic test. It's confirmed that Maddy has Diastrophic Dysplasia. No big surprise there - it was nearly six months ago that I suspected that diagnosis in this post here. And since then, it seemed to be confirmed over and over in Maddy's symptoms so we weren't really expecting a different result. We don't have the results yet for Bernard and my genetic test - but 99% of the time, Diastrophic Dysplasia is an autosomal recessive disease - so both parents must be carriers. We will meet with the geneticist probably next week on Friday and should get the results to that then, if not before. I'd love to not have to worry about passing this on to our next child, because we would like more children. Chances are though that there's a one in four possibility of our next child also being Diastrophic. Many people would choose not to have more biological children with those odds - but DD isn't the worst thing that a child can be born with, so others still choose to have more children regardless of the odds. 

In other Maddy news, she's starting to get the ear cysts which are very common among DD babies. The nurses have put a compression bandage over the affected ear so hopefully it doesn't scar into a cauliflower ear. The ear cysts usually last around 3 weeks or so and then heal with no permanent damage (apart from scarring - but the compression bandages should minimise that). 

Also, the ENTs, orthopedic doctors and anesthetists will meet tomorrow at noon to discuss Maddy's neck issues - I'm not exactly sure what they're discussing because I thought it was confirmed that they were going to do the CT scan next. Maybe they're going to change that again on us, I don't know. But at least this meeting should finalise whatever they're going to do so that we know what's happening with her... 

There's not much else new going on. Maddy is still stable, still off all the machines but still on the NG feeding tube. The occupational therapist still hasn't come to start the oral stimulation, hopefully that will start soon so that she can get off the feeding tube as well. She already does suck on a dummy (that's a pacifier for all you Americans ;) ) so hopefully she learns quickly and can get the feeding tube out soon :)

Three to Four weeks

I asked the pediatrician today for his estimate of how much longer Maddy will need to be in NICU. He said probably another three to four weeks. I was pretty shocked - she's doing so great, she's not on any of the machines at all and is only on a feeding tube. She's meant to start oral stimulation any day now so that she can come off that as well and feed via her mouth instead. 

I think that the doctors are being super cautious with her. Maddy is the first case of Diastrophic Dysplasia that they've ever seen so they are taking their time to do all the relevant tests and examinations, which all take time. They decided to cancel the MRI and to do a CT scan instead. They think it will be better for Maddy. I don't mind what they do as long as they decide what she needs done and then do it so she can come home already...

Maddy's two weeks old today - that means that she'll likely spend her first 5-6 weeks in hospital. It also means that we've got another three to four weeks of going up to the hospital every day at the same time for those ridiculous visiting hours (unless it becomes possible to breastfeed directly, in which case I'm allowed at any time and don't have to honour the visiting hours). Another three to four weeks of our lives being on hold...

When Maddy was first born, the pediatrician mentioned that she may be in for two weeks. Now that those two weeks are over, I can't believe that we're probably not even half way through this NICU stay... 

Having a child in NICU is a weird thing... it's like having a baby but then not really having a baby. Our every day life is so similar to before Maddy was born, we have no newborn to feed every few hours, no little nappies to change, no stroller to push around as we go out. But my mind is on Maddy practically the entire day.

I know that in many ways, life will be "harder" once Maddy comes home. I know that she will be demanding (particularly if she's gotten used to being fed every 2 hours around the clock! That's not a schedule I relish). I know that we will have worries about her health too. But I feel as though our family is incomplete without her here... 

I've heard parents who have lost babies talking about how they feel like they have empty arms. They have gone through a pregnancy and have no child in the end, and that leaves an empty hole in their arms and heart. Women aren't meant to go through pregnancy and not have a child to hold in the end. I don't pretend to know the pain of losing a child - but I do know what it's like to feel that emptiness, like something very important is missing. 

I miss Maddy, and I don't want to go another three to four weeks before we can be together as a family for the first time...

Maddy Cuddles

Bernard and I have both had the chance to give Maddy cuddles :) She's so snuggly, I can't wait to be able to get her home and snuggle with her on the sofa instead of the hard plastic hospital chairs!! 

Here's some of the pics for you all to enjoy :)

In other Maddy news, I mentioned yesterday, she's now off all the machines other than the monitors. She is still being fed primarily through the feeding tube, however they're going to start "oral stimulation" with the occupational therapist soon to help her remember her sucking reflexes. She's very stable and I wish we could bring her home already. The doctors want to wait until after the MRI though which is meant to be another 2 weeks away. I'm going to keep asking them every day though, because in my opinion, if she's stable enough to be at home, and if there's no medical reason for her to be there other than just waiting for a test, I'd rather her be at home and I can bring her back for the MRI... I don't know if the doctors would be open to that but I figure if I keep telling them it's my preference (in a nice way of course), it can't hurt and it may help... I don't want for her to have to spend her entire first MONTH in NICU!! Especially if she's healthy and stable. We're hoping and praying that she can come home soon... we need more of those cuddles!!

Past, Present and Future

On the 17th of February this year - exactly 6 months ago tomorrow - my life changed drastically. A couple of weeks before that, I'd had bad results in the OSCAR test and the doctor said we had a 1 in 7 chance that our baby had downs syndrome. After much thought and prayer, Bernard and I decided to go ahead with the amniocentesis so that we would know for sure. We knew that our OSCAR results were bad, but surely with odds of 1 in 7, that meant that we had a 6 in 7 chance that our baby was perfectly normal right? 

And so six months ago tomorrow, we went for our appointment for the amniocentesis. However it wasn't to be. After a quick look at our daughter on the ultrasound (we found out that she was a girl), our doctor said that our baby did not have Downs Syndrome and instead had something wrong with her skeleton. It was outside of his realm of expertise so he would call around a few specialists and get me an appointment ASAP. 

I went back into the waiting room knowing that something was wrong, very wrong. I couldn't contain my tears. After a couple of weeks of reading about Downs Syndrome, I had prepared myself to accept it, if that was the case. But this all of a sudden seemed so much worse. 

The doctor got us an appointment with a specialist within a couple of hours, and off we went. That was when we first heard the term "Skeletal Dysplasia". We were told that the chances of our baby being "normal" were extremely unlikely. We were also told that we had a high chance that the baby would not survive the pregnancy, let alone be able to live once she was born. I went home and researched Skeletal Dysplasia and what it really meant, and I found there was a 30% chance of stillbirth and 25% chance that the baby would not make it longer than a couple of days. Our "odds" were probably even worse than that since we found out relatively early in the pregnancy. Usually if Skeletal Dysplasia is detected at 17 weeks gestation, it is bad news. 

I spent the next month or two trying to prepare myself for the worst - but I never truly believed that our child would not survive. The thought that it was even a possibility tore me apart. But somehow I "knew" that she would make it. I also "knew" that she would not be like other babies, and I knew that there was a purpose in that, even though it would be a hard road for our family to walk... 

As I look back to that time, it feels like it was a lifetime ago. There was a time when I was blissfully ignorant of all these issues. There was a time when I never thought it would happen to our family, that we'd be that statistic - the one in 500,000. 

But as my daughter sleeps in NICU, I wouldn't have it any other way. It has been a difficult six months, probably the hardest of my entire life, I think. It is still hard now, not being able to change anything and just having to trust God and trust the doctors. I know that this journey has made us stronger, it has made me stronger. It has opened my eyes to issues that I had never thought about previously. I feel like being Maddy's mother has already made me a better person, and it will continue to do so as she grows up. 

Today, I had the privilege of holding 12 day old Maddy for the first time. (I didn't have my camera, once again!! So you'll have to wait for photos ;) ) The first thing she did when she was placed in my arms was to let out a massive poop. It was so nice to hold her after nearly two weeks of waiting. I noticed she felt "different" to Lana as a baby. Her centre of gravity is so much higher. I'm sure that we'll get used to her differences soon though. I already don't notice her short arms and legs, and the different shape of her hands. 

Maddy is doing awesome - she's now off ALL the machines, she doesn't even have the oxygen tube any more now. She's only connected to the monitors. She is still being fed by the NG tube, but they are going to start trying to feed her orally today. I hope that goes well - however she may have lost a bit of her sucking reflex since she has never been fed orally before, and also her cleft palate may make it more difficult as well.

The head of the NICU was back today and he is trying to coordinate with the other doctors a way to do Maddy's endoscopy and MRI. However, he was amazed at how much Maddy has improved in the past week. Her Stridor (noisy breathing) is already much less than it was a week ago and it is getting better every day. He also doesn't think that her cervical spine is as unstable as previously thought. Hence we are now able to hold Maddy. He doesn't think that either the endoscopy or the MRI are very urgent and his focus seems to be more on getting Maddy ready to come home. It was really a light at the end of the tunnel. I didn't get much time to talk with him as he was very busy on his first day back, but I want to ask him how soon he thinks Maddy will be ready to come home.

I'm so glad to know that Maddy is getting better and stronger and will be coming home soon. I don't know how soon, but I'm happy to wait for her. After all, six months ago we didn't even know if we would be able to bring her home at all. But now, the future looks so bright. I'm ready to begin life at home with our daughter and to see where this journey continues to take us :)

More Maddy pics

Nanny had a great time visiting Maddy last week before she left Hong Kong

A big yawn from an alert little girl who is off CPAP

There, now you can see her pretty face better!

Hi Daddy!!

Daddy take 2

Mummy's turn

Now let's smile together for the camera :)

Having a heart to heart with my daughter :)

Hospital frustrations

Madeline is 9 days old today. And for all the people asking, we decided on the spelling "Madeline". We always agreed on that spelling, but I had a freak out moment in labour where I asked Bernard "What do you think about the spelling Madelyn? I think I like it better." Actually, I prefer the more "traditional" spelling Madeline, but I don't want people pronouncing it as "Ma-de-Liiiine", and "Madelyn" is spelt more like it sounds...

Today when I went to visit our baby girl, I was happy to find her CPAP free!! They put her on a bit of oxygen though, but it's so nice to be able to see her face better now. Now there's just a very thin tube under her nose, that's all :) Unfortunately I forgot my camera though! She's looking really good though and is pretty stable too.

Yesterday I forgot my camera too and was kicking myself because yesterday she was so alert and awake my entire visit. And also yesterday was my first time to see her with the hiccups, and also to see her sneeze :) Silly little things I know, but when I only see my daughter for such a small amount of time, it is actually quite special. Yesterday as well, she was spitting up some milk so she even smelt like a regular newborn :) 

I've got a few frustrations with the hospital at the moment. The first frustration is their policies on bringing in the breastmilk. I understand that they just want to make sure that it's all safe - but they don't accept breastmilk storage bags, only bottles. And they only accept frozen milk as well. And it's one bottle for one feed only, they'll throw out any remaining milk. 

I'm currently doing great with pumping, I'm pumping about 800mL a day and Maddy's only drinking 480mL a day. Yesterday she was drinking 60mL eight times a day, so I was putting around 100mL into 8 bottles, knowing that they'll throw out the extra 40mL but at least I know they have the milk there if they wanted to increase her feedings.

Anyway, I went in today and the nurse told me that they're now feeding her 40mL twelve times a day. So what that means is that in the past 24 hours, they've given her the eight feeds that I sent up pouring out 60% of the milk, but then also feeding her another four formula feeds. I know it's just a stupid thing, and that formula isn't going to kill her. But I hate knowing that I have plenty of milk that she should be drinking that would be better for her than formula, but because of the hospital policies, they pour out that milk and give her formula instead. I'll have to bring up 12 bottles a day now, and then when the pediatrician changes the system again, it will probably mess up how much milk I've been putting into each bottle, and then they'll have to feed her formula to make up for it. It's crazy... I know I shouldn't let it bother me but when I'm pumping for hours each day, waking myself at 4am to pump, knowing that this is the ONE thing I can do for my daughter, it really gets on my nerves that they're not giving her that milk and pouring it down the sink instead. 

My second frustration at the moment is that the doctors are at a headlock as to who is going to do the next tests on Maddy. She needs two things assessed - her airways and her cervical spine. The ENT wants to do the endoscopy to see her airways, and the orthopedic doctors want to do an MRI to assess her cervical spine. For both procedures, she will need to be sedated by the anesthetist. The ENT is refusing to do the endoscopy until the orthopedic doctors assess the spine, the orthopedic doctors are refusing to do the MRI unless Maddy is sedated, and the anesthetist is refusing to sedate Maddy until she knows the state of Maddy's airways and the results of the endoscopy. So no one wants to make the first step there. 

The pediatrician has been trying to get those three departments to sit down together and find a workable solution, but so far he hasn't had any luck there. The head of the NICU department is away at the moment but will be back on Monday and the pediatrician we've been talking to is hoping that he'll be able to help get it all done somehow. 

In the meantime, we're pretty much just waiting for the results of those two tests. I asked the doctor when we'd be able to hold Maddy now that she's off the CPAP, but we can't until we know the state of her cervical spine. I asked him when they are going to try feeding Maddy by mouth rather than by the NG tube and he wants to know the results of the endoscopy before they do that. 

I asked how much longer Maddy is likely to be in for, and his vague answer said that they had no immediate plans for her to come home. I think it will probably be at least another 2 weeks.

So that's where we're at right now. Maddy's getting stronger and looking good. She's getting more alert. But we're just waiting on the results of a couple of tests before they can start thinking about managing her condition and sending her home with us.

Please pray that the doctors can work together to find a solution so that Maddy can get these tests done soon, and that the results of the tests will be good so that she is able to come home soon. I really miss her...

One Week Old :)

Today is Maddy's one week birthday :) Bernard also went back to work today so I went to visit Maddy by myself. I'm so tired of the whole NICU thing. Some parents have to keep their babies in NICU for months though - so I should be counting my blessings that Maddy is overall pretty healthy and should only be in there for weeks, not months... 

In the last week, I've seen babies come into NICU and babies leave. When we first were there a week ago, there were mainly bigger babies but now there are a bunch of new little premies... I have no idea exactly how premature they are, but Maddy would easily be four to five times the size of the smallest one (although they're probably the same length!!)... I know that really Maddy's very healthy compared to some of those little ones...

Maddy is still doing pretty well - getting stronger and healthier. She's now up to 60mL per feed, 8 times a day!! And she is completely off the IV as well. Her CPAP has been turned down once again - although the setting it is on now, you can still hear her wheezing - but her oxygen stats are good even with the wheezing noise. 

I've been a bit worried the past few days that Maddy may need a tracheotomy - that is one of the ways that they treat the tracheomalacia "floppy airways" issues that she is having. Although her endoscopy isn't for another week and if they keep turning down her CPAP, I think she should be fine without the need for a trach. 

The orthopedic doctors still haven't really given an assessment of the spine. A few orthopedic doctors have come to see her, but none of them really have the expertise to comment on Maddy's cervical spine. There are some who are experts in pediatric orthopedics, and others who are experts in spine orthopedics, but as our pediatrician said, we need the right doctor who has the right expertise in pediatric spine orthopedics to be able to give his assessment of Maddy's spine. So far, they haven't found that doctor, or he hasn't come to see Maddy yet. It's frustrating for me because so much is hanging on that particular assessment, and it feels like we are no closer to getting it than we were a week ago.

Maddy's still being treated for the jaundice, but she's not even looking very yellow now - I think most likely she won't need the phototherapy for much longer. 

I have to keep reminding myself that this NICU thing is not forever, it is just for a couple of weeks. And I know that it is the best place for Maddy for now. Yesterday when we went to see Maddy, she was particularly wiggly and got out of her CPAP too many times to count. She was also pretty cranky and so she'd get herself worked up and cry really hard - and every time she did that, you could see her oxygen stats dropping. She's fine off the CPAP if she's not crying and just breathing calmly (although it is still obvious that her breathing is not "normal"), but as soon as she gets cranky, her oxygen levels go down. It helped to remind me that she does NEED to be there for now. So I know that I need to be patient about it all, even though it's very hard!!

Five Days Old

I've been trying to update my blog every day because I've got so many people asking after Maddy - and it's easier to update here than to explain it over and over again. 

Maddy's still doing pretty well, pretty stable. I noticed today that they've decreased the pressure on the CPAP machine again, so that's one step in the right direction :) I'm a bit frustrated though because at the moment, the focus is on keeping her stable and letting all the specialists from every department come and examine her in their own time, rather than on getting her ready to come home. But then again, I also know that Diastrophic Dysplasia is extremely rare and all of the doctors (apart from the geneticist) have never seen a case before, so I understand them needing to spend more time examining Maddy. 

Maddy's eating pretty well at the moment too. The other day, they started feeding her 10mL each feed, 8 times a day, then they stopped for a day or so because of the concern over the neck issues but they started again - yesterday she was on 15mL each feed, and today she's on 25 or 30mL a feed :) I'm expressing and bringing milk up for her so I'm glad to be doing my bit to help her get stronger :) It's one of the small things I can actually do for her at the moment... I don't know if I mentioned before, but Maddy was born with a cleft palate - something that we knew could possibly be an issue before she was born. So breastfeeding will likely be difficult, if not impossible, even after she is out of the hospital. But we'll cross that bridge once we get to it. For now I'm preparing myself to pump long term and if it turns out I don't have to, then that's an added bonus.

Today we had an appointment with the anesthetist and the ENT. Maddy has what is called Stridor which is a high pitched whistling sound when she breathes. Normally, the ENT would do an endoscopy, where she looks at the airways with a little camera in order to find the cause. However with Maddy's neck instability, it could be dangerous to do this. They have tentatively booked her in for the procedure next week on Wednesday but are waiting for the opinions of the orthopedic doctors about her neck instability first. The appointment was in order to explain the endoscopy to us and explain the risks (which include "sudden death" - not something you want to hear when talking about your 5 day old daughter). I figure though that if Maddy was fine with delivery, hopefully that means the neck is stable enough for this procedure because it will help us to know how to manage Maddy's breathing issues long term.

 

Maddy is also slightly jaundiced and is now under the phototherapy light. I guess it is to be expected when they didn't feed her for the first three days or so! In comparison to her other issues though, the jaundice is a mild thing which is easily corrected, and she's in the hospital anyway so it doesn't really make that much difference whether she's there under the light or not. And now that she's under the phototherapy and eating better, I'm sure it will pass quickly :)

 

My mum left Hong Kong today after being here for a bit over two weeks, and Bernard will go back to work on Wednesday, so it will be a bit crazy around here I think. I'm so glad that we hired a domestic helper though, it makes it so much easier for me to get up to the hospital. Without help, it would be near impossible since I can't take Lana at all. I need to go to the hospital every day to take my milk up, and we don't live particularly close to the hospital unfortunately!!  

 

Please keep us all in your prayers, we really appreciate all the notes and emails we've been getting as well - even if we haven't been able to reply to everyone individually.

Day Three

Today I had the pleasure of seeing my little Maddy twice :) (usually we only see her once because of the strict visiting hours at NICU). I wanted to take some milk up for her in the morning and got to sneak in as well (even though it was outside of the visiting hours). She was awake and looking around, although she couldn't see much because she was laying mostly on her stomach. It was cute to see her little eyes though, I don't think I've seen her with her eyes open before :) 

Maddy's still pretty stable, not much change there. They did stop feeding her orally though for now, I think they want to take it slow, just to be safe. They want to avoid intubation so they're not pushing her too fast, they're not in a hurry to take her off the machines until they know she'll do great off them, and now there are still many unknowns.

They did end up managing to get the blood from her for the genetic test, so they'll send that off and we should know the results within a week and a half or so. Everyone's pretty confident that it's DD though, I think we all would be surprised if it's not. Plus, I don't think that they have any second guesses - so if it's not DD it will be back to square one! 

I also asked the nurse today how long Maddy was. When she was born, they had other priorities than measuring her, so we didn't find out on day one and I hadn't remembered to ask again since. I knew that she'd be short because her legs are so short, but I wanted to know exactly how short she was. She's only 39cm long - which I think is pretty average for DD babies. But it explains why she's so rolly polly - she's got 8lb of weight (a bit above average for full term babies) squished into the length of an average baby born at 29 weeks gestation!!

In non-Maddy news, we had tickets to take Lana to go see Sesame Street Live, Elmo grows up. We bought them knowing it was right around my due date, but thinking that if Bernard and I couldn't go, we could give the tickets away, or have my mum take Lana to see the show instead. With all that's been going on, we thought it was important for Bernard and I to take Lana and spend some quality time with her as well. She had a great time joining in the singing and pointing out all the characters. When it was finished, she burst into tears - "More Elmo?? More Elmo??" She was not happy that it was over!! It was great to spend some time with our big girl because I think she's had a bit of a hard time with me being in the hospital, and then with Bernard and I leaving her for a few hours every day. 

Another thing - my mum is going home on Monday. She has been a great support to me over the past couple of weeks during the end of my pregnancy and the birth of Maddy. She's been great with Lana too, she's now officially better at putting her to bed than Bernard or I ;) One thing that was difficult for her (and also for me) was that because of the NICU visiting rules, she wouldn't be able to see Maddy before she left. They only allow parents, unless the baby has been there for over a month - then after that, grandparents are also allowed. I talked to the nurses though and explained the situation and they are going to allow Mum to come and visit as a special exception. I'm so thankful that Mum will be able to see Maddy before she goes home :)

I think that's all my news for today :) Keep praying for Maddy, I'm sure that this time will pass quickly and before we know it she'll be coming home with us :)

Two days old

We went to see Maddy again today and we're pleased that she's doing well. The CPAP machine was originally giving her 50% oxygen but now it is down to only 21%, the same as we all breathe. Her blood oxygen levels are great too, her lungs are doing their job well. The main problem is her airways though -  the pressure of the air coming out of the CPAP machine is helping to keep her airways open so that she can breath well. The airways are a bit like a floppy straw that tend to narrow when air goes through them but with a bit more pressure, they can stay open well.

We had an appointment to talk with the geneticist today and he talked with us through all the x rays that were taken yesterday. He is fairly convinced that Maddy has Diastrophic Dysplasia and blood tests will confirm whether or not that is the case. Bernard and I got our blood taken today because this is a recessive disease which means that we both would most probably need to be carriers in order for Maddy to have inherited the disease from us. They will try to take Maddy's blood in the next couple of days - but they need between 2-3mL of blood for the test which can be difficult to get from a newborn. Once they have her blood, they will send off all our samples together and we should have the results a week and a half later. 

One bit of good news about Maddy is that they've started feeding her orally now. She seems to be tolerating it - although she needs to be fed by a feeding tube directly into her stomach. Hopefully the food will help her to get stronger :) It means that I need to be more disciplined about expressing - I haven't been as good and consistent as I should have been because I've got so much on my mind and so much to do as it is. 

While we were there today, Maddy seemed to be much happier. She was sleeping a lot, which was nice to see because on most of our other visits, she's been crying and struggling against the machines. I didn't want to disturb her though so we didn't spend as much time patting her back and tickling her toes as we have on other visits. 

The x rays that were taken yesterday gave us a bit more of an understanding about her condition. One of the main things that is of concern is her cervical spine (the neck area). The vertebrae in this area are misshapen and there is one particular area which appears quite unstable. This is quite common in DD babies and they often wear special neck braces that help to give them extra stability. The danger is that if this instability becomes a dislocation, it may cause the bones in the neck to press on the spinal cord possibly causing things like permanent paraplegia. 

We had a bit of a fright tonight - Bernard had a call that went like this:

Nurse: Bernard? This is the hospital, the doctors need to urgently speak to you about your daughter.

Bernard: Ok, let me talk to them.

Nurse: They'll call you back soon. *click*

Talk about getting our hearts racing! We lasted about 2 minutes before we called the hospital directly to ask how Maddy was doing. Turns out she was fine, as stable as she was this afternoon, the doctor just wanted to discuss her case with us. 

It was another half hour before the doctor called us back so I'm glad that we at least knew that Maddy was ok! The doctor actually wanted to talk to us about the dangers of the cervical spine so that we are fully aware in advance. The problem for them is that since Maddy is having trouble with her airways, IF something happens and the CPAP is not enough to keep her airways open, they may need to intubate her. Intubating will require moving her head around in order to get the tube down to her lungs - and in doing so, they may inadvertently cause her spine to dislocate since it is already unstable, possibly causing damage to the spinal cord. If there is the need for this, they will just need to go ahead and do it because it would be a life or death situation for Maddy - but we need to know the risks in advance. It's definitely scary for us, so let's all pray that she WON'T need to be intubated - or worst case scenario that God will guide the doctors' hands so that nothing goes wrong. If she does need intubation, we will likely be informed after it has happened because at that particular time, all of their energy will go to looking after Maddy, they may not have the resources to spare to contact us at that time. And while that's hard to know, it's the way it should be. I don't want their care of Maddy to be diminished because of my "need to know". It is definitely sobering though... even though Maddy is doing well now and is pretty stable, she is still quite delicate and she's not completely out of the most dangerous stage yet.

I know that through all of this, God has brought us this far and he won't leave us know. He's given us so much strength, more than I thought was possible. And I know with all my heart that He has a purpose in all of this. I might not understand it exactly but I need to trust Him. 

The night that Maddy was born, I was pretty emotional about her health and as I was praying after I had visited her in the NICU, I said to God, "She's not mine, You gave her to me and I dedicate her back to You. Her life and all that it involves belongs to You and I need to trust that You have a plan for her and You will look after her and give us strength to be the best parents we possibly can be for her." I have to keep reminding myself of that because there's not that much I can do for Maddy at the moment except for love her. I can't hold her, I can't feed her, I can't bathe her. The medical staff are doing all the day to day things of looking after her, and they're doing a much better job than I would be able to do in her current delicate state. I just need to keep loving her and keep trusting that God is watching out for her. I know that He is :)

Maddy Pics!!

Here's our first picture of Maddy, one day old in the NICU.

She's a chubby baby - part of her condition means that she's got a lot of excess skin. I think it's cute ;) She'll grow into her skin with time ;)

Her bed is kept under this cling wrap. I haven't asked why yet! The nurses let us take it off her so we can touch her and hold her hand though.

There, now she's uncovered :)

The CPAP machine helps her airways to stay open so that she can breathe stronger. Maddy has a velcro headband that holds it in place. Stylish!! Looks like she's just been to the gym ;)

She doesn't really like the CPAP and wiggles around so it will come off.

Here's all her machines - she's already got a few computers especially for her!!

This is what Daddy sees when he's sitting down looking at his angel :)

The NICU ward

Maddy after she successfully wiggled out of the CPAP ;) I think she looks like Lana!!

Maddy - one day old

I just wanted to update about Maddy's condition today. Last night, it was a bit difficult for us to hear that Maddy had been transferred from the Special Care Unit to the NICU. In my mind, I thought there were two levels in the SCU/NICU. I thought that SCU was where the babies are for observation when they're not that sick, and that NICU was for the babies who were critical and in danger of dying. And although there are some truths in that, I was thinking about the two extremes of both NICU and SCU. Maddy isn't in a critical condition at all, I think that they just don't use the CPAP machine in the SCU wards and so she's in the "least serious" NICU ward there. The other babies in there with her aren't the delicate, frail premature babies fighting for every breath but are also mostly full term and not very seriously sick.

Overnight, Maddy was pretty stable and by morning, they had even turned the CPAP down a bit. The doctor is going to be weaning her off it slowly. Maddy doesn't like the machine at all, she fights against it and cries quite a lot - but when she actually succeeds at ripping it out, she calms down and is happy. I know that's a good sign ;)

Maddy's already had quite a few specialist visits, and has even more lined up. She has seen (or will see in the next couple of days) the radiologist for a full skeletal survey (x rays of her entire body), the ear nose throat specialist, the geneticist and the orthopedic doctor (whatever the proper name for that is). I can't remember if there are more than those. She's mostly in the care of the pediatricians and nurses at the NICU though and they're really good with her. The pediatrician is a sweet heart - I was talking to him last night and he said to me "She really is a sweet little thing, isn't she?". She's in good hands there!

I came home from the hospital today - I asked for an early discharge because there's not much that I can do for Maddy at the hospital. I will be there every day and will be making sure I know medically what's going on, and I will be pumping and taking milk up for her - but I know that I can look after myself better at home where I can rest, eat good food and be with my family instead of alone in a hospital ward, unable to sleep because of the cries of other peoples babies when my own is four floors above me.

It was hard to leave Maddy in the hospital, but I know that's where she needs to be to get the care she needs right now - and it's only for a time, until she gets a bit stronger. I know I could be anxious about it but really I'm not. I knew that this might be necessary for her, and so we were a bit more prepared for it. Neither me nor Bernard have held her yet - although we've tickled her feet and patted her on the back lots. She is on an IV drip and can't have anything orally until her breathing is a bit more stable, but I'm pumping for when she can eat and drink because I know that's the best thing for her too.

I know that most mothers don't go through this kind of thing with their newborns, but I know that Maddy isn't like most babies... and most babies like Maddy do need a bit more care and attention as they transition into the world. It's only for a time and we know that she'll be home with us as soon as she can be :) She's going to be ok :)

An email from Bernard

Bernard wrote this email the night that Maddy was born (ie, last night) and I thought it was so great that I got his permission to post it on my blog too. I want to set him up as a contributor on my blog but he said he wouldn't post - so I'll just have to post his emails myself ;) 

Dear family, relatives and friends,

I just wanted to let you all know that our little girl Madeline (or Madelyn - we're still deciding on spelling) arrived at 4:53pm today.  She is by-and-large quite healthy so we're all really grateful and thankful for that.

As some of you may know already, the doctors had suspected that Maddy might have a form of skeletal dysplasia called "diastrophic dysplasia" (also called "DD"). (I guess a number of you might have been following Nicole's blog (http://nicolejoy81.blogspot.com) about our journey through this situation but I thought I would send around an e-mail for the benefit of those who don't follow it.)  DD is s a genetic condition, and what this means is that there may be complications with the formation of her bones (which can affect her height and appearance).  We found out at 17 weeks that Maddy might have this condition - but we nonetheless decided to continue with the pregnancy.  It wasn't an easy decision, but we knew it was the right decision to make.  And it's certainly been a rough ride for us (and family also), and we're extremely grateful to everyone for their prayers and support.

Anyway, since DD affects the formation of the skeletal structure, one of our biggest concerns was that Maddy's chest wouldn't be large enough for her lungs.  Well, the doctors and the consultants have had a look at her and they think it sort of looks ok.  But having said that, Maddy's been moved to the NICU (Neonatal Intensive-Care Unit) for observation because she's having trouble with her breathing now - they've put her on CPAP (see http://en.wikipedia.org/wiki/Positive_airway_pressure) to try to help improve her breathing.  The doctors have said that we might need to be prepared for this (i.e. the issue with her breathing) to be a long journey.

I suddenly remembered reading someone else's blog (see Lindsey's blog at http://eviejayne.blogspot.com/2010/07/prodigal-daughter.html) a month ago or so, in which she shared her thoughts and fears about her daughter who has another form of skeletal problem.  I read her post and cried - and I realized that's what I need to do.  I need to nail my fears and burdens on the cross.  You see, Nicole is quite vocal and outspoken, and in her blog, she explains a lot about the condition our Maddy has, and she also shares a lot on how she's been feeling personally.  I, on the other hand, tend to be a bit more reserved and I'm not really that much of an open book for all to read.  I tend to let people only see the calm exterior, even though a whirlpool of emotions may be churning up inside of me.

Which makes this next part a bit out of character, but I also need to nail them to the cross.  So here goes:

I'm a bit scared.
Ok, I'm actually very scared.
I'm scared of not knowing how Maddy's breathing is going to be.
I'm scared of not knowing how to deal with Maddy's skeletal issues.
I'm scared that I can't control things.
I'm scared that I don't hold my destiny in my own hands.
As a daddy, I just want my little girl to be ok.

Lindsey also mentioned a Scripture in her blog which really spoke to me:

When I am afraid,
I will trust in you,
In God, whose Word I praise,
In God I trust, I will not be afraid.

                    ~ Psalm 56:3

So yes - I'm afraid.  The little girl whose medical condition frightened me 6 months ago is the same little girl I can't bear to lose now.  I'm afraid that my little girl will slip through my hands like a vapour in the wind...

But I'm so grateful that someone greater than I is holding my little girl in His hands.  Someone greater knows how it's all going to turn out.  Someone greater is the author of my little Maddy's destiny.  So while I'm scared that my hands are enough, I have a blessed assurance that His hands are larger than mine, and that He'll look after Maddy and my family.  Isaiah 59:1 says this about my God: "Behold, the LORD'S hand is not shortened, that it cannot save; neither his ear heavy, that it cannot hear."

So yes - I'm afraid.  But when I am afraid, I will trust in the Lord.  I will trust in Him and not be afraid.

Please continue to pray for Maddy that she'll breathe strongly and independently (without the need for any assistance), and that her breathing will stabilize very quickly.

Thank you all for the support you've been over this period.

Lots of love,
Bernard and Nicole (and Lana)

She's here!

Our little girl is finally here!  Maddy (her name's Madeline or Madelyn - we haven't decided which spelling yet) arrived at 4:53pm today.  The doctor's expected her to weigh around 2.4kg - so imagine our surprise when they told us her weight was 3.62kg (which is even heavier than what Lana weighed at her birth)!  She also scored slightly higher on the APGAR test than Lana did (scoring around a 9 out of 10 or so) so that was good to hear.  There are still the skeletal dysplasia issues but I guess that didn't really catch us by surprise.

The main thing however is that Maddy is having some issues with her breathing now - I went to check up on Maddy later in the evening and found that they had moved her into the NICU ward for observation.  She was breathing via CPAP.  That's the main thing we're concerned with right now - once she's stable in that regard, we can start worrying about the other issues.  She's our little girl - and we just want her to be all right.

So we would appreciate if you could all please continue to pray that her breathing stabilizes and that she can breathe strongly on her own.  After all, our little Maddy is a fighter and she's strong.  It's hard for her daddy to see her struggle, but whatever happens, I am supremely confident that God knows what He's doing.

Thanks everyone for your love, prayers and support.  We'll keep you posted as things progress.

Love,
Bern (and Nic)

Inducing!

Just thought I'd write a quick update, I'm currently at the hospital and will be induced tomorrow morning. I've already had the prostaglandin gel to prepare the cervix - there's a chance that in itself will get things moving. I'm already feeling a bit crampy and all that, so maybe - hopefully! If not, I'll have the pitocin in the morning and baby girl should be here by tomorrow night!! I'm so glad that we will finally be able to meet her.

Thank you all for all your prayers and support over the past 6 months or so. If you can please continue to pray tonight and tomorrow for the safe arrival of our daughter, for a smooth and uncomplicated labour and delivery, and that she will be healthy when she gets here, able to breath normally.

Looking forward to being able to update with news of her arrival!!

I blame Bernard ;)

When we first found out I was expecting again, at our first Doctor's visit, he said the baby would be due in the last week of July or the first week of August. He said that the most accurate time to predict the due date was at the 12 week scan though. At our 12 week scan, the "accurate due date" was given as July 28. For some reason though, whenever someone asked Bernard when the baby was due, he would say "early August". I corrected him over and over because I was "sure" that the baby would be born in July. After all, Lana's due date was also the 28th (but of October), and she was born on the 24th. Even if this one was a whole week later than that, it would still be born in July, not August. Because surely you're "similar-ish" from one pregnancy to the next right?

I was so wrong though. It's now the first of August and the bub is still not here, she's now 4 days late. A couple of weeks ago, I was "sure" that she was coming any day now. My prediction was that she'd be here on the 20th - I really felt that she'd be earlier than what Lana was. Now if she doesn't come in the next few days, I'll likely end up being induced!! 

It's funny though, a couple of weeks ago, I was really anxious for her to be here. I was expecting it at any moment. And now that I'm overdue, I'm actually less anxious and impatient. I'm glad that she decided to wait - last week we were all so sick, now we're all doing much better. But it feels like the birth is getting further and further away instead of closer and closer. I know that it will almost definitely happen some time this week though. If not naturally, then I think they'll want to induce this week. I'm hoping and praying that it will happen naturally though!

So a note for all the ladies: mother's intuition isn't all it's cracked up to be ;) At least for me in this area anyway. I expected to go late with Lana and I was wrong. I thought that this baby was a boy and I was wrong about that too. And I was sure that this one would be around a week early and I was wrong there too. Maybe there's something to be said for father's intuition - because Bernard's been far more correct than I have been! Or maybe he just jinxed me ;) Anyway, I blame him ;) ;)