Thursday, August 29, 2013

Baby girl 3 - 24 weeks

Early last week, I had my 24 week ultrasound for this baby girl. Bernard wasn't able to come with me to this appointment, instead I brought along the camera man and producer from TVB Pearl! The appointment went really well - baby is growing well (she still obviously has DD, but considering that, she's growing well). Limbs are now around 5 weeks behind - Maddy's at the same stage were 6 weeks behind so maybe this one will be a bit taller? I'm sure it's too early to predict that. Good news is that the cystic hygroma seems to be shrinking a bit. The doctor is unconcerned and honestly, I am too.

It's amazing how relaxed I feel about her having dwarfism. Having a glimpse into the future takes away most of the worries. The one thing that I do get myself worked up about is the whole NICU thing - we had such a bad experience with Maddy and I hope we won't have a repeat of that... 

I still haven't registered at the hospital that I need to deliver at - I know that doing so will add stress to me as well (the hospital is a stressful place for one, also the appointments take forever and the location is inconvenient as well, along with the archaic attitudes of many of the staff there). My private doctor is so supportive, I feel as though I'm still in great hands - and whatever makes this pregnancy less stressful is a good thing. The hospital cannot turn me away so there's no "need" to register at all - although it's better if they have your medical records before you deliver, particularly in situations like this (besides, if you haven't registered, you can only be admitted through the emergency department!). 

The best thing about this past appointment is that we got to see a 3D picture of our little girl's face and hand - you can see she has very similar hands to Maddy, with the hitch-hiker's thumb as well. 


Friday, August 23, 2013


A month and a half ago, I was contacted via this post by a producer from the Hong Kong TV station, TVB Pearl. He was filming an episode for The Pearl Report, a current affairs/documentary kind of show, about skeletal dysplasias in Hong Kong and asked whether we'd be interested in being a part of it. At the time we were still in the US but I figured when we got back, why not? Personally I feel as though the biggest reason for discrimination is ignorance - and if I could share anything that might help dispel a bit of ignorance, it can't be a bad thing. 

Over the past few weeks, we spent a bit of time filming different things - we filmed a bit at the beach one day, then another day the crew came to our house, they joined us for speech therapy one day, and they joined us at a prenatal appointment another day. We were meant to also go to see Maddy's orthopedic doctor and go to occupational therapy, but unfortunately both of those appointments were cancelled due to a typhoon! 

Overall, it was interesting filming with them. I hope that this show does bring a bit of awareness to living with dwarfism and other skeletal dysplasias within Hong Kong. My main concern is that it may present an overly negative, sensationalised perspective. Many of the questions that the producer asked me were negatively phrased... things like "What are the biggest challenges..." and "what are your worries for the future" and "what has been the hardest times in Maddy's life". I wanted to make it clear that while dwarfism does raise unique challenges, Maddy is no more of a "burden" than any other child. Maddy is a joy, and a blessing - just as she is. There are difficulties with any child - and many of the things that have been hardest with Maddy have nothing to do with her dwarfism. In fact, our biggest issues lately have been sibling rivalry. So very "normal"! Also, many parents of "healthy" children have far more difficulties than the small, physical things that we deal with.

I'm looking forward to seeing the final product - it will air around mid-September or so. When I know the exact date, I will post it here in advance - in addition, the episodes are available to view online for a period of time (I'm not sure if there are regional restrictions though). I hope there will be many viewers and that this show can raise positive awareness about dwarfism :)

Saturday, August 17, 2013

My first "Guest Post"

For a long time, I have been reading the blog "This Little Miggy Stayed Home". Miggy has two daughters who are very close in age to my two girls, and is also expecting a third daughter in December, just like we are as well! Her 2nd daughter, who she calls "Lamp", was born with limb differences. She is super adorable and smart :)

One of my favourite features of this blog is the weekly "Special Needs Spotlight", where Miggy features different families affected by special needs. I look forward to reading about a new family each week, and learning more about special needs in general. 

It wasn't until recently that I thought "Hey, maybe I could write about Maddy!" and so Miggy kindly agreed to do a spotlight on our little family. 

I'm so excited to share it with you - check it out here :)

Friday, August 16, 2013

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!)

Thursday, August 8, 2013

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...

Sunday, August 4, 2013

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): 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!