Fun with Grandma

Bernard's mum was recently in Hong Kong and she visited with Maddy last weekend. She was only the 4th person other than doctors and nurses etc to meet Maddy because of the strict visiting rules at the hospitals here in Hong Kong. Here are some pics of their time together.

You can see from the pictures that they're trying to give Maddy a more stimulating environment now that she's getting older. She has a little seat that she can sit in so she's not just laying in the bed all day - she can be a bit more upright as well, and also she has a funny little mobile that they set up for her. She's actually quite fascinated by it and loves to stare at the hanging toys :)

One Month

I don't have a lot to say today but just wanted to write and say

Happy One Month Birthday Maddy!!

Maddy celebrated by meeting her paternal grandmother. One of the "benefits" of being in NICU for a month or more is that grandparents are now allowed to visit her. Maddy only has one grandparent living in Hong Kong (Bernard's dad) - but Bernard's mum is visiting at the moment so they were able to meet and spend a bit of time together today :) The visiting hours for grandparents are even more strict than the visiting hours for parents so Bernard's dad is planning to meet Maddy next weekend. 

This past month has been completely crazy - but I'm glad that our little girl is here and that she's safe and getting stronger in the hospital. I wish more than anything that she was able to be home with us - but I'm just thankful that she's here... 

How can I help?

I found this great link yesterday when I was looking up random NICU information. I agree nearly 100% with it so I thought I'd post it over here too... It's mostly specifically about premature babies (as probably 90% of NICU babies are there because of prematurity - that's my estimate from my limited experience in NICU anyway). But whatever reason a baby is in NICU, I think the principles below generally hold pretty true.

from http://www.prematurity.org/baby/preemie-baby-helping.html

1. Don't judge the parent's reactions. There is no right or wrong way to deal with a premature birth.

2. Don't compare the baby's needs to those of a full-term baby OR to other preemies.

3. Don't just say "Call me if you need something." Do something! You can provide dinners, do yard work, go grocery shopping, offer to drive them to the hospital, and/or clean their house.

4. Be available when parents ask for help. If we ask for help, that means we needed it a long time ago.

5. Don't discuss the possibility of death or severe complications unless the parents initiate it.

6. Be inconvenienced. Helping someone should not always be bound by our comfort zones and busy schedules.

7. Buy appropriate gifts for the family, such as disposable cameras, calling cards, rolls of quarters, snacks, magazines, photo albums, journals, scrapbooks, and gift cards.

8. Support and praise a mother who is pumping breast milk during the baby's hospitalization. If is very difficult to maintain a milk supply when the baby is unable to nurse directly from the breast.

9. Baby-sit free of charge if the parents have older children. You can do this so parents can visit the hospital together or go out on a date.

10. When asking about the baby's progress, always listen carefully to the parent's response. Then, the next time you speak with them, refer back to the last thing they told you.

11. Offer encouragement during setbacks and gently remind parents of previous obstacles the baby has overcome.

12. Don't ask "when is she coming home?" The parents want the baby to come home too, but there are no quick fixes in the NICU. Besides, they will let everyone know when the time finally comes!

13. Don't be fooled by smiling faces. Just because the parents are smiling doesn't mean everything is going well.

14. Don't offer too much unsolicited advice.

15. Show interest in the baby and the parents throughout the hospitalization and after the baby has been home a while.

16. Make sincere compliments about the baby whenever you're visiting the hospital or looking at photos.

17. Don't compare their experience with someone else's hospitalization.

18. Offer a hug when the parents are expressing grief.

19. Avoid discussing disappointing news or concerns within hearing distance of older siblings. The older children are suffering as well.

20. Nicely recommend that counseling be sought when parents show signs of losing control.

Not going to happen...

I talked to the doctors today about the possibility of bringing Maddy home first and bringing her for the hospital as an outpatient for the MRI/bronchoscopy but they said it wasn't safe to bring her home. Even though she's been stable for the past few weeks already, because her trachea is so narrow, it would be very easy for it to become blocked. If it did become blocked for whatever reason (eg, a common cold could be dangerous for Maddy), they may need to take emergency action such as giving Maddy an emergency tracheostomy. 

The good thing about the CT scan is that now we know exactly where the narrowing is, and we know that the rest of her airways down into her lungs look ok - so if Maddy DID have to have a tracheostomy, it would completely bypass the problem area and hence (hopefully) solve the entire problem. However I'd prefer if we could avoid that altogether!! I guess that's one thing I can remind myself of - that if her being kept in hospital as a precaution prevents her from needing a tracheostomy, maybe that's a good thing. And it's definitely a good thing that they know what to do if Maddy's small trachea does happen to become blocked for any reason...

I've got mixed emotions about the whole thing. I am happy to know that Maddy is there for some kind of "medical" reason beyond just waiting for the tests - but I'm still frustrated at how long everything is taking. They booked the MRI for September 15th, two weeks away. And that's not even going to assess her airway (the main problem area) at all. So we've got a long wait to have any kinds of answers about what we're doing next. 

The doctors are going to have another meeting with the ENT and orthopedic doctors next week to discuss whether this approach (MRI and then bronchoscopy after that) is the best for Maddy - and given their past track record, I wouldn't be surprised if they end up changing it up again!

I really don't relish the thought of Maddy being in hospital for two months or longer, all up - but like I said in my previous post, I need to do what's best for her, not what's best for me... and I know that even though it doesn't always seem like it, the doctors aren't my enemies who are playing a tug-of-war with me over my daughter. They want the same thing that I do, and that is for Maddy to be completely healthy :)

CT scan results

Last Tuesday, Maddy had her CT scan. There were two purposes to it, a) to check the stability of the cervical spine, and b) to assess the airways to see if there was any narrowing. 

We got the results back today and a) the stability of the cervical spine was inconclusive from this test, and b) the CT scan showed some narrowing of the airways at the larynx (voicebox area). 

The main concern at the moment is Maddy's airways. Although she's doing great at the moment, breathing independently (she has been for weeks now), and her O2 stats are always very good (I haven't seen them lower than 95 or so for weeks), the narrowest part of the airway is about 1.9mm instead of the normal 3.5-4mm. The doctor explained to me today that this narrowing would make it very easy for something like a simple cold to be a serious problem for Maddy, and also if she were to get a bit of milk or something in her airways, it would be very easy for this narrowing to become blocked. So as a result, oral feeding is probably out for a while at least.

Because of the results, the doctors want to go ahead with the bronchoscopy which will give a better image of the airways than the CT scan, however they still will not do it unless the orthopedic doctor clears the cervical spine first. And the orthopedic doctors will not clear the cervical spine just based on the CT scan, so the next step is to do an MRI.

The MRI is a bit more risky than the CT scan. It takes a longer period of time and so it will require a heavier sedation, and also as a part of the MRI they will maneuver Maddy's neck to be able to get images of her neck in different positions.

The MRI will be done in a week or two, and then IF that clears the cervical spine, the bronchoscopy will be done a week or two after that. (If it doesn't clear the cervical spine, I don't know what the plan is then...) Then based on what they find in the bronchoscopy, we'll see what we need to do from there. But in any case, it still looks like it will probably be at least another 3-4 weeks from now... 

I'm getting more and more frustrated and down about the whole situation. It just seems like with each step that they take, the end seems further and further away. And Maddy is just there waiting for the tests, not attached to any machines, doing seemingly so well. When she was born, I knew that she would need to go to NICU but I was expecting it to be for maybe around two weeks. It has now been a month already, and it's looking like it will probably be at least another month... I think I would be happier about it all if I could see an obvious "reason" for Maddy being in there, but the only reason she's there is to get these tests done, and also because I don't know how to replace a feeding tube and she can't feed orally... 

I want to try to talk with the doctors and see if it would be possible to bring Maddy home first and then to bring her back to the hospital as an outpatient for the tests. I've already asked that question before though and they weren't very receptive to it then... I might try again though and see what the doctor says this time. I'm just getting so worn down by all this... but I do want what's best for Maddy, not just what is best for me...

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.