A visit with Dr Mackenzie

Last month, we went to the US and Canada. The main reason for this trip was to see my brother get married (both of our girls were flower girls :) ). While we were there, we wanted to take the opportunity to visit Dr Mackenzie at Alfred duPont Hospital in Wilmington Delaware.

Dr Mackenzie is somewhat of a celebrity amongst the dwarfism community. He has the most experience maybe out of any orthopedic surgeon in North America when it comes to dwarfism in general, and more specifically Diastrophic dysplasia. We wanted to take Maddy's x-rays and MRI's to him so that he could consult with our doctors in Hong Kong and ultimately get the best medical care for Maddy here.

We had high expectations from this appointment and were not disappointed. The hospital itself is gorgeous, with a large outdoor playground. While we were waiting to see Dr Mackenzie, the kids were entertained by a large model train set. After the appointment, in the waiting area, we were surprised to find a hands-on reptile show which the girls loved. Also we were very happy to meet two families I've known online for some time - Ian (who also has DD) and his mother Ren (who I blogged about here - although unfortunately the video is no longer available online :( ), and also Sonia and her mother Melissa (I emailed Melissa when I was pregnant with Maddy! Sonia has Osteogenesis Imperfecta, or "Brittle bone disease").

The staff were all warm and friendly, and Dr Mackenzie himself was amazing.There were two main things that Dr Mackenzie would change about the way we manage Maddy's orthopedic issues.

Of greatest concern is Maddy's spine. Her kyphoscoliosis is significant and she will inevitably need spinal surgery to correct it. In the mean time, Dr Mackenzie recommended that we start casting and bracing for her spine - this would hopefully delay the need for surgery and could make surgery easier when the time comes. It will, however, be hot and uncomfortable to deal with on a daily basis!

Secondly, Dr Mackenzie was concerned that Maddy's ankles did not have enough support. She currently is using an orthotic insole to try and support her ankles, but Dr Mackenzie feels she would benefit from orthotics which cover the ankles as well. Again, I'm sure this will be a difficult change and will be uncomfortable for Maddy.

We have an appointment next week to discuss these thoughts with our orthopedic surgeon here in Hong Kong. Hopefully he and Dr Mackenzie will liaise with each other. While I know that these changes may be difficult to manage, I also know that if the long-term benefits are significant, it is the best thing to do. The aim always is for long-term mobility rather than short-term comfort!

Finally, some pictures from the hospital playground:

(and I'm still kicking myself that we got no pictures of Maddy with Ian!)

Pregnancy update

I am currently just about 23 weeks pregnant with our third daughter, who has also been diagnosed with diastrophic dysplasia. I am far more relaxed this time around, but there have been moments of freaking out as well. One of the things I assumed was that this pregnancy (if it was a baby with DD) would be very similar to the last, that the ultrasounds would show similar issues but we would know not to be concerned since we'd already been there. 

Even from 14 weeks when we first had early warning signs though, this pregnancy has been very different. 

With Maddy, our first "warning sign" was the nuchal translucency scan. For a "normal" baby, the nuchal fold should measure around 2mm. Maddy's, however was 4.5mm. I was expecting for this baby to be one or the other, however this baby had a nuchal fold of nearly 10mm - double even what Maddy's was! 

At that stage, this was of great concern to me. While it could be due to the dwarfism, we also have the same risks of other genetic diseases as other couples. What if this child had a different genetic disease? How would we cope with that? And since we have the same risk of, for example, having a child with Down syndrome, that potential child with Down syndrome has a 25% chance of having Down syndrome AND dwarfism. Prior to this pregnancy, that thought hadn't even occurred to me. 

It was recommended that we have the NIFTY test - a blood test that can very accurately detect many chromosomal abnormalities such as Down syndrome. The test has no risk to the baby so we agreed to do it, just for our own information. Thankfully, our test was negative meaning that the chromosomes (at least the ones they test for) are all "normal".

After we came back from the US, we had the 20 week scan and in this scan, we found that the baby has a cystic hygroma (basically, a fluid filled sac at the back of the baby's neck). This is often linked to high nuchal fold measurements, and it is something that is generally associated with chromosomal abnormalities. It's also something that was never noticed in my pregnancy with Maddy. Once again, our obgyn referred us to a prenatal diagnostic specialist for further tests. 

Basically, it is known that this baby does have diastrophic dysplasia. So many of her skeletal measurements are almost identical to Maddy's at the same stage. There is still a very slim possibility that this baby has two genetic diseases - but the NIFTY test has ruled out the most common ones. Most likely, the cystic hygroma is caused by diastrophic dysplasia.

I did ask my wonderful diastrophic network whether they had heard of this issue being associated with DD. One mother with a gorgeous baby who reminds me so much of Maddy said that they had a similar experience. In their case, the hygroma was still significant in size at 32 weeks, but it had disappeared by the time the baby was born (which is not uncommon, hygromas often resolve naturally). 

So we are hoping and praying that our experience is similar to that - that this issue will resolve itself naturally, and that it is only a symptom of dwarfism and nothing more. We will have to keep an eye on it throughout the pregnancy and see what happens.

Our next scan will be next week (at 24 weeks) and we will see how things go from there. I still am only seeing the private doctors who I saw in my pregnancy with Maddy and they are wonderful and sensitive. I'm a bit apprehensive about registering at the hospital where I need to deliver at because I know the doctors there generally are not. I am leaving it as late as possible before I register because I don't want or need the stress! 

That said, whenever I think about the hospital, the delivery, and in particular NICU, I get very stressed... but more on that another time...

Happy 3rd Birthday Maddy!

It's been a long time and I have lots to update with... this pregnancy, our trip to the US - in particular Maddy's appointment with Dr Mackenzie... but for now I'm going to keep it simple.

This time three years ago, I had started my induction and was waiting with bated breath for Maddy to arrive. In the past three years, she has grown from this baby (one day old in NICU):

...to this little girl (just 3 weeks ago as flower girl in my brother's wedding)!

It's been a crazy three years - we've had our ups and downs, many of which have been documented right here in this blog! But at the end of the day, we have a healthy, strong and feisty little girl who has brought so much joy to our family.

Happy birthday to my little girl! We love you!

Off to the US of A!

I have been so busy lately that I don't even know if I have mentioned on this blog yet, we are off to North America TOMORROW! We will spend most of our time between New York and New Brunswick, Canada and will be gone for a total of four weeks. This trip has been a long time coming - we were planning a trip to the US when I was pregnant with Maddy and we cancelled it due to the complications. It is somewhat ironic that this time, we are going having just heard similar (but oh so different) news. 

Most of this trip will be spent just the four of us, travelling around through New England. But there are two "highlights" of this trip. First of all, my younger brother is finally marrying the girl I told him ten years ago was perfect for him! And my two girls will be flower girls :)

Secondly, we plan to go and see the leading orthopedic surgeon in Maddy's diagnosis, Dr William Mackenzie. I've heard nothing but good things about Dr Mackenzie and am eager to have his opinion on Maddy's condition and future treatment options. I'm thankful that our orthopedic doctors are willing to consult with him as it's unlikely that we will be able to travel to the US for surgeries. 

We will have other highlights as well, NYC, Boston, Philadelphia, roadtripping through coastal Maine... but those are the two main "events". The rest will be a whole lot of relaxing and spending time together. 

I probably won't be blogging much over the next four (or five) weeks until we settle in back to HK, but you never know. 

I also want to thank so many of you who in the last 24 hours have poured out so much love and support for Bernard and I. I'm thankful to have such good friends.

Until next time :)

Holding onto Hope - again

In this pregnancy, although Bernard and I had come to accept the possibility of having another baby with dwarfism, we were of course hoping that this child would not have dwarfism. For one, having a baby with dwarfism is a lot of extra work. Doctors visits. Therapists. Working a lot harder to do things that come naturally for other kids. Secondly, dwarfism (particularly diastrophic dysplasia) is debilitating. While people with this condition are usually mobile to some extent, they have restrictions on that mobility. They can't walk as fast or as far, and mobility can decrease as they age. Thirdly, particularly with this condition, people often suffer from chronic pain as their joints deteriorate. In many ways, this is the worst thing about diastrophic dwarfism. And who would want to choose that, if we could pick? Finally, for myself, I thought that after the trauma of the last pregnancy, having a "normal" pregnancy would be healing for me. I never appreciated so many things with Lana. I didn't appreciate being able to breastfeed. Or to bring her home from the hospital with me. Or being able to do whatever we wanted without multiple appointments a week throughout her first year. I was wanting to have another "run-of-the-mill" baby that I could really appreciate every single thing that we missed with Maddy. 

On the other hand, I've recognised that so many positives have come into our lives because of Maddy's dwarfism, and that although we didn't choose it, it is a part of who Maddy is and I wouldn't change her for the world. I also know that there could be benefits for Maddy in having a sibling with the same condition as her - camaraderie, support, understanding... things that we as "average height" parents cannot fully give her in the same way that someone who shares a diagnosis can give her. 

Despite all of that, I have not prayed for "my will" to be done. Just like the gender of children is (usually) out of the parents' control, so it was in our situation. And I've prayed that God will complete our family (as this will likely be our last child) with the child that He knows is right for us. 

This week, we found out that our third (probably) daughter also has diastrophic dysplasia.

There are mixed emotions of course - Disappointment? a little. Fear? not really. Acceptance? a lot. 

Is there a chance that the doctors are wrong? Simply - no. The limbs are already off the charts. The hitch-hikers thumbs are exactly the same as Maddy's hands. The feet are slightly clubbed. Small jaw. Bell-shaped torso. All things we have seen before and recognise very clearly. For "average babies", these issues do not exist at this stage.

It's only been in the last few days that I've realised that this pregnancy can be healing too. The worst thing when I was pregnant with Maddy was that fear of the unknown. The searching for a diagnosis. Not knowing if it was lethal or not. This time, that fear is completely gone. There's no need for "prenatal diagnostics" because we know the diagnosis already. Is there still unknowns? A little - there is a range of severity with diastrophic dwarfism, even with between siblings. So this baby could be less severely affected than Maddy, or she could be more severely affected. We don't know until she is born.

I've chosen not to register yet at the public hospital where Maddy was born simply because I don't need the extra stress. I have a wonderful doctor who is happy to support me through the rest of my pregnancy, although we both know where this baby needs to be born. We both agree that technically, my pregnancy is not "high risk" to me, I'm not at risk of premature labour, there's no extra care that I need (other than frequent ultrasounds just to make sure the little one is growing). So I can at least have a "normal" pregnancy. That in itself is healing.

Please continue to keep our family in your thoughts and prayers - I'm sure that we will have ups and downs, even though this was not a completely unexpected outcome. Also please pray for our child - that she will grow stronger, particularly her ribs, lungs and airways. Pray for the doctors who will care for us during the pregnancy and for her after she is born. And for our family as we will possibly be spending this Christmas in NICU (although it would be really nice not to!)

We are all older and wiser, and a lot more educated, than we were this time three years ago. "It's not our first time at the rodeo", they say. This time, we're holding onto hope - again :) And with a whole lot more confidence, and a lot less fear this time too.

Ma - I very small...

We try to be very open about Maddy's dwarfism in our family. I've heard stories of kids with dwarfism starting school and not even realising until then that there is something "different" about them, and then it comes as a huge shock to them when they are told "Oh by the way, you have dwarfism!" I don't want that, I want Maddy to always know (in an age appropriate way) that she has dwarfism and that's ok. As a result, we talk about dwarfism at home. Usually to Lana, since she is older and asks more questions and makes more comments. She understands that Maddy is small because she has dwarfism, and that she will never grow as tall as most adults. She also thinks at times that when she was a baby and was small, that she must also have had dwarfism but she's grown out of it now. It's a process, but I want for there to always be that dialogue there. 

Maddy is often mistaken for a "baby". People ask me all the time whether she is 6 months old, or 9 months old... they try to guess her age and are way off. The fact is, at first glance she does look that young. Her hair isn't even very long yet and she's the height of a 6 month old so it's a natural mistake. She is in fact very much an almost-three-year-old, walking and talking, getting into mischief, being cheeky and silly, singing little songs... She both acts and thinks like any other nearly-three year old. I often explain to people "She's not a baby, she's just very small", or "She's not a baby, she just looks a lot younger than she is". At this stage, I think that's the best explanation. Particularly being in Hong Kong, most people (particularly non-Native English speakers) have no idea what you're talking about if you mention dwarfism. 

For ages, if you asked Maddy if she was a baby, she would say "Yes! I'm a baby!" and giggle. I think she liked being the baby, and maybe was called "baby" so often that she thought it was true. Recently though, she's been telling strangers "I'm not a baby!" and rightly so - she's not! 

The other night, I was heading to bed and I heard Maddy was still awake. Since she's still in a cot, she can't sneak into our room in the middle of the night like Lana would at that age. I thought it'd be nice to smuggle her in for some cuddles. As we were laying there, staring into each others eyes and every now and then grinning and giggling like schoolgirls staying up after curfew, out of no-where, Maddy said to me "Ma, I very small".

I was taken aback at first, and said "Yes Maddy, you are". It's the first time she has commented on her size by herself. I'm sure she's heard it a bunch of times. I still don't know how aware of this she really is, but I figure it's baby steps. 

She is very small, and that's ok.

Best Buddies

Kids here in Hong Kong start playgroup and preschool very early. Because Maddy is not delayed socially, cognitively or behaviourally, I thought it was important to get her into a class where she could meet some other kids her age and interact with them. So when she was 18 months old, I signed her up for a playgroup that she attended for three months before her cleft surgery. I wrote a little about it here.

In this playgroup, she met two very sweet and very cute twin boys who really took a shine to her. Check out this photo from February last year... (the twins are directly behind Maddy in the blue jackets).

In September of last year, Maddy started going to preschool, or "kindy" as they call it over here. She has been attending five days a week, two hours every morning. She is at the same school as her playgroup, and I was happy to learn that these sweet boys would again be her classmates. 

One of these boys in particular has been a very special friend to Maddy. He's always looking out for Maddy, but not smothering her.

 Maddy adores him, and whenever I ask her who she saw at school that day, his name (along with the wonderful teachers who have made this year amazing for her) is the first mentioned.

 As you can probably already tell, they stick together like glue in class, often dressing up together and doing activities together.

 Check out where Maddy's hand is in the above picture! Cracks me up. 

We will be travelling in June, so I decided to take the girls out of school at the end of May to save a little on school fees. Tomorrow will be their last day at this school. 

In the new school year, Maddy will be moving to a new campus that I feel is more suitable for her physical needs. It is all on one level with no internal staircase, and also has access to a fantastic outdoor playground which the kids can use. While I feel this is the best choice for Maddy, I know that she will miss this very special friendship - as will I. 

So far, we don't see this little boy outside of school. I'm hoping that this will change. I sent a little note home to his parents today with my contact details, so fingers crossed...

I know that this friendship is just as special to these boys at it is to Maddy. When they had to choose their "best friend" to be the sun in their birthday celebration a couple of weeks ago, they chose Maddy. They also both wanted to give Maddy THEIR gifts that they received from the school at the Christmas play!

Whenever I think of Maddy's first friends, I will always think of these two gorgeous boys who have made Maddy's first year of "school" one to remember. I hope we are in touch with them for years to come!