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 :)