The past three months

The past three months have been a busy time for our family, the most notable updates about Maddy are as follows:

1. In November or so last year, Maddy had an MRI done of her hips and spine. Orthopedically, they are her two biggest areas of concern. Her hip joints are shallow and the head of her femur is flat and misshapen. The ortho was previously talking about the possibility of surgery, but after this last MRI, they have decided that there is nothing they can do for now. Any possible surgical interventions on her hips have the possibility of making things worse rather than better. The "good news" is that Maddy is mobile and healthy so her bad hips are not currently affecting her. The "bad news" is that they will probably deteriorate with age and use and it is not unlikely that she will end up needing a hip replacement at a young age (maybe 20's-30's, but as with everything, it is wait and see). 

2. The above picture is Maddy's spine (with a couple of my fingers helping her to stand still ;) ). Even to the untrained eye, there is an obvious kink right around where the lungs are (the "thoracic spine" is the technical term). This scoliosis is currently at about 32-33 degrees, and to quote the amazing ortho we saw at our last visit: "This spine will definitely need surgery sooner or later". Spinal surgery is pretty scary and to be honest I had a bit of a freak-out after hearing that. I hoped and prayed that Maddy would avoid the spinal complications of her dwarfism - but ultimately, this is the situation and we will deal with it as we go. I should write a big long post about this particular ortho though - he was a British guy here for 6 months or a year, and we had a long talk about the Hong Kong medical system and it's pros and cons.

3. We have always known that since Maddy has a restricted rib cage, her lung capacity is also reduced and so she is more at risk for complications of the flu or other colds. Her scoliosis also affects her lungs, since it is in that region. She seems to have made up for that with a fantastic immune system and has mostly avoided just about every sickness that has made it's rounds. At Christmas time, however, we all were down with a nasty cold. Maddy got it too and was pretty miserable. One day, she slept 23 hours and we noticed her breathing was very fast, with some "insucking" or "indrawing" as they seem to call it elsewhere (see http://www.youtube.com/watch?v=C3lgqVf1fVU if you want to know what I mean). We took her to our GP who advised that we should take her to hospital. I could write another long post about that - but basically the infection had spread to the lungs and she had bronchiolitis. 5 nights in hospital and she was rearing to go again. It was our first private hospital stay and compared to the public hospital, it was heaven! 

4. Maddy's speech is really coming along. She's still delayed but she is doing AMAZINGLY. It has been such a concern over the past 2 years really, it is good to see her catching up. Her understanding is fantastic for her age, her vocabulary is about average - her main issue is with articulation (ie, she doesn't form the sounds correctly and can be difficult to understand). Even that is improving though... it also warrants another post at a later date...

For now though, I think this will suffice as a very general overview of what's been going on medically and developmentally since last time :)

The future of this blog

Three months! That's how long it's been since I've updated this blog. In the beginning, I started this blog as a way to record the pregnancy with all it's ups and downs. I've wished that recording our experiences and making them public would help other people - and it has. I've had multiple people contact me through this blog saying things like "My pregnancy was similar to yours, and reading your story has given me hope". At least one person was given a prenatal lethal diagnosis by medical practitioners, but questioned that by comparing her measurements to mine at a similar stage in her pregnancy. The doctors were wrong and that beautiful little girl now also has the middle name of "Hope". 

A lot has happened during the past few months and I've given a lot of thought about the direction that this blog will take. In the beginning, I spent so much time on here, writing updates and recording everything. As Maddy grew and there was less "medical news", the updates became less and less frequent. Simply put, I've had less to say. 

I have thought of closing the blog down - but I couldn't do that, not after knowing it has helped people who were in similar situations to where we were right on three years ago. (It was 3 years and 10 days since I first heard the words "skeletal dysplasia", and 3 years and 3 days since I first wrote this first post.) So I've decided this blog will stay online for now.

I don't want it to die completely either though - although I can't afford the time that I used to spend on it. I have realised that I am not a "blogger". I'm not a great writer. I ramble on too much. I don't "change my theme" or use the right "buttons" and link up with "throw-back thursday" or "wordless wednesday". I thought of doing it but it's just not what this blog is about.

So I will continue to update about Maddy's current condition, I may post videos and photos from time to time as well. Hopefully more frequently than every 3 months - although I'm not going to be watching the calendar either. But I do welcome a friendly nudge if it's getting too long since the last update ;)

Climbing

For many people with dwarfism, their most valuable "tool" is the humble step stool. We have a few around the place, mainly for Lana to reach the bathroom sink to wash her hands. This one ended up being used for a footstool at our keyboard and as such, lives in the lounge room. The kids have been using them as seats, but tonight, Maddy figured out that with the stool, she can manage to climb onto our sofa. Not a small achievement, given that the sofa is around the same height as Maddy's nose! 

I think I need to get more of these stools, and also figure out how to make the bottom slip-proof. We need to be very careful to hold the stool while Maddy is climbing, otherwise it goes flying from underneath her. I welcome any suggestions!

(and how's that? No posts for six weeks and now you guys get two in a day ;) )

Playground Independence

Playground independence has been a long time coming for Maddy. Many of the playgrounds here in Hong Kong have large steps which are difficult for little legs to climb (and by little legs, I mean legs that are possibly still shorter than the average newborn baby's!). Then there are high bridges with not much protection at the sides which freak me out, even though I'm not usually a paranoid parent (it would be so easy for her to fall). Last of all, there are the other kids. As you can tell in this video, Hong Kong parks are crowded places and kids are very interested in Maddy, who honestly does look too small to be walking as well as she is. Many of them want to hold her hand and inevitably knock her down in their efforts to be "helpful". 

As the weather cools down, we find ourselves at the park more and more frequently - and this year, Maddy is starting to hold her own! She has mastered the smaller stairs, she can go down just about any slide and controls her speed with her shoes, and she avoids the extra-friendly kids as much as possible. It makes me so proud!

Talking

Maddy's speech has been one of her main areas of delay. I've spoken about her issues here many times before, starting in this post nearly a year ago (that's half a life-time for a 2 year old!) and in greater detail in this aptly named post, "Worry" which was subsequently followed by "Communicating" less than a week later. Speech for Maddy has been a bit harder - mainly due to the cleft palate. Her "receptive language" (that is, the amount of language that she understands) is pretty average/age appropriate. Since her surgery, her vocabulary has been improving exponentially. Currently, her main issue is with articulation (ie, what she does say is very difficult to understand - even for people who are with her all day, every day). 

I know though that she will "catch up", but it will take more practice and speech therapy. We have a really nice therapist who we have been seeing weekly, and sometimes I have to remind myself that Maddy's cleft surgery was only 4 months away - so really, she's only been talking for 4 months. When that is considered, she's doing awesome!

I shot this little video in the bath a week or two ago and thought I'd share it to show you all what her speech is like these days:

(transcription)

Me: Can you sing "Twinkle Twinkle little star?"
Maddy: Twinkle twinkle... HOLD!
Me: No, you can't hold - you're in the bath.
Maddy: Hold please...
Me: No, you cannot
Me: Sing twinkle twinkle
Maddy: Baby!
Me: Twinkle twinkle... oh, Baby

Maddy: Bath!
Me: Ok, Baby do twinkle twinkle.
Maddy: (singing "Twinkle Twinkle") - Again!
Me: Again? What's baby going to do now? Maddy? What's baby doing? Oh - bye bye baby!
Maddy: Bye bye baby! Bye bye baby! Bye!

Meet paralympian, Grant "Scooter" Patterson

I love reading stories about other people with diastrophic dysplasia and the things they have accomplished. It's a rare condition and not easy to find stories of people specifically with this form of dwarfism. Two years ago, I first read about Chris Errera, a pianist who has since gone on to appear on The Rosie O'Donnell show.

I first heard of Grant "Scooter" Patterson when Maddy was still in NICU. Prof Sillence brought a few photos of people with different forms of dwarfism who had been patients of his. Scooter was one of them. I didn't realise at the time that I would also read about him in the news paper.

A year or so ago, I stumbled upon this story of Scooter I copied the link to a draft post intending to share it here but never got around to it. It is only because the paralympics are on at the moment that he's come to my attention again.

A dear family friend (Hi Aunty Susan!) was talking to my parents and mentioned that she'd seen Scooter on TV and thought that "diastrophic dysplasia" might have been the same thing that Maddy had. My dad looked him up and sent me this story, complete with a video!

I love how Scooter inspires me to keep Maddy fit and active - particularly with swimming (as a low-impact sport, it is perfect for someone with joint issues). Who knows, one day we might see Maddy in the paralympics too!! Why not??

(an interesting side-note: Scooter's next event in London is the S4 100m Freestyle. Also representing Australia in the same event is Amhed Kelly, the brother of the X-Factor contestent, Emmanuel Kelly.)

Scoliosis and other stuff

Wow, it's been a full month since my last post! It's been a great and busy month. We had two weeks in Australia which was fantastic, then since we've been back I've been trying to catch up on uni work (I'm still behind!), we've had a bunch of appointments for Maddy, and we've been trying to enjoy summer as well. Also, we have a very special 2nd birthday coming up in two days! 

We've had a bit of a hard time finding shoes to work with Maddy's new insole orthotic - her feet are so small and wide. We have a pair that are ok but are really a size too big for her. We tried to find a smaller size, but they don't sell them in a solid rubber sole here in HK - so the pair that did fit her well didn't support her feet as well as they needed to. I've ordered some from the US that should work, fingers crossed! It's always a risk when you can't try them on before buying them.

In other news, Maddy had her orthopedic appointment yesterday. She sees two teams of orthopedic doctors - the spinal team and the pediatric team. The spinal team follows up on her spine issues (obviously) and the pediatric team follows up on everything else. The appointment yesterday didn't go as well as I'd hoped. 

First of all, Maddy's scoliosis is progressing. I'd suspected as much since I'd noticed a bit of a hump in her upper back. It is currently at a 32 degree angle. It's too early for surgery now, but we will keep an eye on it and within a few years, it's likely that she will need a spinal fusion.That's one surgery I was hoping to avoid, but I know it's fairly common for people with diastrophic dysplasia.

Secondly, the pediatric team are still quite concerned about Maddy's hips. The joint is still very shallow and they are concerned about possible dislocations. If the joint really is at risk of dislocations, she may need a "hip containment surgery" to protect the joint.

For both of these issues, we will need an MRI in order to get more information. This should be scheduled for the next month or two - and I'm not looking forward to that! For MRI's, they need to place the IV cannula, which is always quite tricky and traumatic for Maddy (and me!!). You can read about our last cannula/blood test experiences here and here. The MRI in itself is fine, and Maddy tolerates the sedation well too - it's just the IV which is rough.

I was going to add some pics but blogger is taking forever so will add them next time. Hopefully I'll update sooner than next month!