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!!