February 28 - Jeans for Genes Day

When I was growing up, the school that I went to participated in the annual "Jeans for Genes" day. I had no idea what it was about at the time - everyone wore denim and had to pay $2. It was some sort of fundraiser for something to do with genes, but I wasn't exactly sure what or why. But I didn't really care since it was a good excuse to be out of school uniform! (I went to a school which was very strict on uniforms. It wasn't a "dress code", it was an actual uniform. A plaid dress with a little tab tie and all).

Turns out that this fundraiser is still going on 20 years later, renamed as "Rare Disease Day: Wear that you Care" and it is a fundraiser for over 7,000 rare diseases such as Diastrophic Dysplasia which affect 250 million people, mainly children, around the world. Why mainly children? Because many of these rare diseases have life expectancies of only twenty years. Or ten. Or five. Or not even one year. We are so fortunate that Maddy's life expectancy should not be affected by her rare disease.

Rare Disease day is coming up on Monday 28th of February, so be sure to sport your denim! And if you can, you can make a donation to help research and cure some of these rare diseases.

Visit The Global Genes Project for more information on Rare Disease Day.

To make a tax deductible donation, click on your appropriate country: Australia, USA, Canada, Hong Kong - or to find your own country, search for it here.

In future years, I'd love to organise a group for World Rare Day - maybe at the girls' school, or at Bernard's work or something like that. This year I liked the idea, but I didn't have the motivation to put wheels on it. Ah well, there's always next year :)

Stuck

I've been avoiding writing this post for a few days now. I was so hoping that at our appointment on Tuesday that the doctor would approve our plans to travel back to Australia. A couple of months ago when Maddy was discharged, he told us to not travel for a couple of months. Since then, the ENT said that Maddy would most probably handle being in a plane. In addition, her breathing is getting better and better all the time - she rarely has the stridor any more now. But it wasn't to be - the doctor told us that we should put our plans to travel on hold for another 3-6 months at least.

Disappointed doesn't even really begin to describe what Bernard and I are feeling at the moment. You see, last Easter we were planning to go to the US but had to cancel it because of my "high risk pregnancy". We thought of going to Australia in the pregnancy instead but it didn't work out. Since Maddy was born, we were initially wanting to go back in October for Lana's birthday, and then after Christmas and into January, and more recently we were starting to think about March, but each time it has fallen through. We haven't had a good break for over a year. Bernard hasn't been back home for over two years. Lana and I haven't been back for eighteen months - last time we were back, she wasn't even walking yet!!

The doctor admitted that chances were that Maddy would most likely cope well with being on a plane - but since they know she has had airway issues, IF there were any complications on the flight, her airway could completely close up and there is absolutely nothing they could do for her on a plane. Oxygen wouldn't help because it wouldn't be able to get into her lungs anyway. It could be a life and death situation. So he advises that it is better to wait a couple more months and then possibly repeat the CT scan to reassess her airway and keep our plans to travel on hold until then. He also advised that we should probably do a couple of short-haul flights before we go back to Australia (a nine hour flight) as well.

I've already had six months experience with this doctor and we have butted heads a bit over the time. I haven't always agreed with his management of Maddy's care when she was in NICU. I still believe that she could have and should have come home between two weeks to a month old and IF she had any problems after that, we could have brought her back. This particular doctor is VERY cautious and conservative. I asked him on Tuesday "If we had another child with DD with similar symptoms to Maddy, how would your care of that patient be different now that you have learnt more about the condition from Maddy?" and his response? "It would practically be identical. There may be a chance that if the feeding went well, we may let the child home slightly earlier if the parents were CPR trained, but there is very little we would do differently." It really makes me think that if we DID have another baby who also happened to have DD, I would prefer to just move back to Australia. I think that the NICU situation there would be much more to my liking, and I'd rather be stranded there than here as well if we were unable to fly!

It is so frustrating to be stuck here, and this issue really brings back a lot of my frustrations with NICU as well. When Maddy was in NICU, it felt like her release just kept getting pushed back later and later. There were times when it felt like there was never any plan to release her. And each time that this doctor tells us "Wait another couple of months to fly", it feels like he'll probably NEVER say she can fly. 

In the meantime, we have SO much time off that Bernard can take (over 7 weeks) - and so little that we can do with it. There are not that many places you can go to from Hong Kong that don't require flying. We have already been to Macau and we spent a couple of days at Disneyland too. We could go to some places in China, but the places that are close to Hong Kong may not be so clean and child-friendly. There are no cruises that depart and land in Hong Kong - but we could possibly do two cruises back to back - say one from HK to Singapore and another one back to HK.

Being stuck here is really hard for both Bernard and I. And for me, it makes me realise more and more that Hong Kong is not "home" for me. I do like it here and we have made some wonderful friends here (some of who have already moved back to their homes, and others who are leaving HK shortly). If it was completely up to me (and it's not), on some days (but not every day), I would love to just call it quits here and move back to where I DO call home. But that plan is not in our immediate future at the moment.

We have another appointment on June 2 with the respiratory team, including the ENT, the pulmonologist and a couple of other doctors that I can't remember right now. I can and will ask them again about flying then - but my past experience with them says they will likely just defer that decision to our neonatologist. Our next appointment with him isn't until July 12. So chances are, we may not be going anywhere before Maddy turns one.

Growing Up

In the past week or two, Maddy has started doing two new things:

1. Eating solids. She's still not too keen on the idea. She spits out more than she swallows. But it's a start, and I know she'll get better. We're currently just trying once a day, but I think I might increase to twice, just so that she gets a bit more practice.

2. Sitting up! She can currently sit completely unassisted for about 15 seconds, and improving every day. She's not at the stage yet where I can leave her sitting and playing by herself - not unless she's surrounded by cushions anyway, but she really likes being upright instead of laying down. 

I know this blog has been a bit sparse on pictures lately, so I hope you enjoy these ones :)

525,600 Minutes

Five hundred twenty-five thousand six hundred minutes,
Five hundred twenty-five thousand moments so dear.
Five hundred twenty-five thousand six hundred minutes
How do you measure, measure a year?

Today marks exactly one year from Maddy's diagnosis of Skeletal Dysplasia (the broad term that covers all kinds of dwarfism, both lethal and non-lethal). What a year it has been! I've written so much about the past year in previous posts, such as this review of 2010 (which wasn't that long ago really) so I'm not going to write another one of those. I've been remembering though, thinking of how far we have come, how much our lives have changed, and how blessed I have felt through it all. The past twelve months have included six months of pregnancy, four months of NICU and only two months of Maddy being home with us! And next Thursday will be my first "anniversary" of this blog :)

Today, Maddy had her MRI. In some ways it was easier than I expected, in other ways it was harder. Maddy was very settled and managed to sleep pretty well in the time before her appointment. I was a little worried that she wouldn't be able to sleep and would be cranky and hungry, but she did really well! The doctor inserting the cannula on the other hand didn't do so fantastically! It took at least four stabs and about 15 minutes before he managed to find a vein. I was about to ask him to stop and find someone who had more experience with babies! Poor Maddy did not like that experience one bit - from that time, she was pretty much screaming inconsolably for half an hour until it was time for her to be sedated - and even then she was still whimpering in her sleep for a while.

After that though, everything was fine. Maddy was knocked out pretty good. The sedation is meant to wear off after 30-60 minutes, but Maddy slept for two hours! The MRI went fine, but it will still be a couple of weeks until our orthopedic appointment to find out the results and what, if anything, needs to be done for Maddy's hips.

Anyway, back to the original topic though - I just wanted to say thanks to all of you, my readers/followers who have supported us SO much over this past year. I've had emails and messages from so many people, people who I wouldn't have even expected to know or care about our situation. I've made countless new friends who have helped us along the way. When I started this blog, it was mainly so that I could pass the information about Maddy on to whoever wanted to read it (and hopefully in the process, I wouldn't have to tell it over and over again!) - but I wasn't expecting to receive so much love and support from all you guys. This past year has been a crazy journey for us - but thanks for being there with us through it all :)

A bit of Disney Magic

At Disneyland, I saw a beautiful girl of about fourteen. She was waiting for the Cinderella's Carousel with her mum and dad. As the gate opened, her dad picked her up out of her wheelchair and helped her up onto a horse. A pretty, pink horse with his mane flowing in the imaginary breeze. And as I watched, tears came down my face. A year ago, I might not have thought much of the scene, or I might have looked away, not eager to be seen looking at someone who was disabled. It's hard to remember exactly what I would have done, that was a lifetime ago. 

Instead, I watched. I was struck by the love in this family, the tender way that the father held his daughter and supported her as she went around and around. I was moved by the grin on the girl's face, she was obviously loving the ride. And I was happy with them - they were obviously having the time of their lives there.

I felt no pity for her or for this family. They obviously weren't feeling sorry for themselves. They were having a wonderful holiday together. I wanted to run up to them and tell them what their devotion to each other meant to me, how I'm a new member of this "special needs parent club" and I'm still learning the ropes - but I just watched in silent appreciation. I will remember her with fondness - the princess who left her throne for a while to ride a horse instead.

When Parents Exaggerate about their Kids

I will always remember Lana's six month developmental check-up. The nurses wanted to check her pincer grip, so they gave her a Cheerio to hold. Lana held it between her index finger and her thumb, but she wasn't using the fingertip of the index finger to hold it, instead she was using the flat part of the index finger. The nurse kept offering the cheerio over and over, and each time, Lana held it in the same way. I could tell that Lana was failing this part of the test - so what was my maternal response?

"She always uses her fingertip for the pincer grip when we're at home!!"

But did I know whether or not that was true? I don't think I had even observed closely enough to know. I just wanted to say "Stop being petty, my daughter is holding the cheerio, who cares what part of the finger she's using - and how dare you fail her!"

I've thought about this many times since this occasion. Probably part of it is my conscience, I typically don't "lie" - and as I observed Lana over the following weeks, I noticed that the nurse was correct, Lana wasn't using her fingertips. Another part of it is that I was surprised by my own maternal urge to exaggerate Lana's abilities in order to make her look better. I've observed this instinct in other parents as well, not just in myself, and I think it's probably pretty universal.

But now that I am the mother of a child with special needs, my response in this kind of situation is completely different. With Lana, my urge was to say "My daughter is advanced for her age in every area. Can't you see how awesome she is? And if you dare offer any criticism, I'll fight it tooth and nail.". With Maddy, my urge is more "I know that Maddy is not like other kids - and when it comes to therapies, she can benefit from whatever help she can get. So where do I sign up?" With Maddy, I think nothing of telling nurses and doctors "Maddy's grasp is extremely poor, she still doesn't do well on her tummy, she can't sit yet and she only can roll from back to stomach in one direction." I know that with their help, Maddy can succeed in these areas faster than without their help.

I'd like to think that I've learned something from having Maddy - and that is, it's not a bad thing to be aware of your child's strengths and weaknesses. And if your child does have weaknesses in a particular area, it's for the best to be honest about them and if help is offered to you, take it for their benefit. If someone (particularly a medical practitioner) points out a weakness that you were previously unaware of, they're not being critical, they're trying to help. So it's not wise to get defensive (and boy, I have a lot of experience with getting defensive - just ask my husband!), the best thing is to listen to their concerns and take them on board.

I was actually in a similar situation with Maddy last week. We were at the Cleft Palate team appointment and one of the doctors asked about what sounds Maddy makes. She really only makes guttural sounds like "grrrr" along with vowel sounds like "oooohhh" and "aaahhh". She doesn't really say much of "babababa" or "dadadada" yet. I've wondered if that could be because of the cleft - although the doctors at that appointment said that it should affect that. It could also be from being socially deprived for four months in NICU - although the nurses did talk with her, just probably not as much as if she were home with us. Or I also wonder if it could be from the laryngomalacia - that affects the voice box so maybe it could affect speech development. But one of the doctors at the cleft palate team appointment said "Maybe she's developmentally delayed". My mothering instinct reared it's head and responded with "With this syndrome, she SHOULDN'T be!"

Maddy will most likely need speech therapy when she gets older, just from having the cleft palate, and so we will be able to deal with whatever speech issues she does have. But I will keep an eye on her speech development milestones and ask the pediatrician about them when we see him on the 22nd. I've learnt now that it's ok to ask for help when we need it, and that sometimes I need to put my mother's pride on the shelf and really look at what my kids strengths and weaknesses are so that I can help them with those weaknesses in whatever way I can :)

Sophia and Lily

As I've been blogging, I keep finding more and more blogs that I love reading. There are two blogs that I have been reading lately that have really impacted me and I thought I'd share them with you. They are both a bit heart-breaking as both of them have lost little ones in the past few weeks, so go on over and offer them a bit of your support.

The first blog, "The Dinkel Family", I found about a month or so ago. At the time, the couple were expecting their first child, a little girl Sophia diagnosed in the womb with Skeletal Dysplasia (the same diagnosis as Maddy). Towards the end of their pregnancy, the doctors told them that Sophia had a lethal form of Skeletal Dysplasia - and I was hoping and praying so hard that little Sophia would defeat the odds. I know MANY little babies with skeletal dysplasia who were given lethal diagnoses but when they were born, it was obvious that they would be able to survive. But this was not the case for Sophia. She was born and passed away soon after her delivery. This was my worst fear during my pregnancy with Maddy and reading Sophia's story has brought back some of our dark times but also reminded me of how blessed we are that Maddy has a non-lethal form. Please go over to the Dinkel's blog and give them a bit of love and support.

The second blog that has been impacting me lately is called "Booferd". This family has just lost their daughter, Lily, to the same chromosomal disorder that their eldest daughter had. The older sister, Charlotte, lived for nearly four years but Lily lived just a few months. One reason why this blog has really impacted me lately is because like this family, we have the possibility of our future children having the same condition that Maddy has. But unlike this family, the consequences of Maddy's disability are comparatively soooo small and insignificant. Yet for me, the decision to have more children is now a much more difficult one now that DD is in the picture.

Another reason that I love this family is because of Lily's name. Quoting from the blog, When we chose Lily's name it was to remind us that Lily was in God's hands and He would care for her, just as He clothes the lilies of the field. Again, this morning I was enjoying all the beautiful flowers--especially the Lilies we have received, and I thought that Heavenly Father doesn't let the lilies stay long on earth, but that doesn't make them any less special. In fact in some ways it makes them more special. He lets them bloom on earth for a short time and their beauty is not wasted. Lily's life was not wasted. Lily was worth it. 

Our girls both have similar names, their Chinese names were named after the same verse in the bible. Lana's Chinese name, "Si-Lan" literally means "Contemplating Orchids" (orchids are my favourite flower and were the flowers we used for my wedding bouquet, six years ago today!) and Maddy's name, "Si-Hei" means "Contemplating Buttercups" ("Hei" is also very similar to the Chinese word for "Hope", kind of like a "Hope flower"). They are based on the verse which says "Consider the lilies", and both of their names are a reminder to us of God's care and protection towards us, and how if He looks after the beautiful flowers, how much more so will He look after us! When we named Lana, I had no idea that our parenting journey would take us on such highs and lows, and just how deeply this scripture would speak to us. But through it all, I realise just how much He HAS been looking after us and how blessed we are to have two beautiful girls.

Please check out the blogs of Sophia and Lily's families and give them a bit of support during this difficult time. And while you're at it, remember to thank God for the ways He has blessed you and looked after you too :)

Medical Update

This week, we were very busy with various appointments. We had three different therapies and one doctors appointment.

We started the week out with physiotherapy on Monday and Maddy is doing pretty well there. In fact, she showed us her brilliant skills when this week she rolled over for the first time! At six months old, that's a little delayed but considering a) her limbs are so much shorter than the average baby, and b) she's spent two months with her legs pretty much immobilised by the Pavlik harness, I think that's pretty great!!

Tuesday was our one day off this week, and Wednesday we had some Occupational Therapy. Maddy is still struggling to use her hands, and it frustrates her a lot. She can pick things up, as seen in this previous post, but she still struggles to hold onto things for any period of time. We have been going to the Children's Hospital for OT but they will refer us to a hospital that is closer to us for continued follow up for Maddy's motor skill development. 

Thursday saw us back with another Occupational Therapist, this time for the oral motor training, to see how Maddy goes on solids. I waited until this appointment to introduce solids for Maddy - I knew most likely she would be fine since she drinks her milk very well now with no choking, but I figured better safe than sorry. And Maddy was much like any baby, I think. At first, she was curious and somewhat interested, she swallowed the first few mouthfuls well but then tired of the experience when some cereal got into her nose through the cleft palate. Her cleft won't affect her eating solids at all, but she will have more food going into the nasal cavity and so there can be a bit of discomfort, but she'll learn :)

Speaking of the cleft, today we had our first appointment with the cleft palate surgical team. I was looking forward to this appointment as it would give me some idea as to when Maddy's palate repair surgery would be. Palates are repaired at different times in different places but here in Hong Kong, the palate is typically repaired between 9-12 months old. Although since Maddy has had airway complications, they will delay the surgery until she is between 18-24 months old instead. When the cleft is repaired, it obstructs the airway a little so it can exacerbate any airway issues, so by waiting until Maddy is bigger and stronger, the risks are lower. In some ways, I'm a little disappointed because I tend to be impatient, I know it needs to be done so I just want it over and done with already. Also by waiting longer, it can lead to more speech complications - and if Maddy is anything like her big sister, by the time she's 24 months she could have a vocabulary of hundreds of words and be able to communicate in full sentences! But I know I need to be patient because it is really in Maddy's best interests to wait. Ultimately breathing is more important than speaking, right? ;)

Next week will be another big week for us. Monday and Tuesday, we have some more "staycation" plans, then on Wednesday we have more physio (I want to ask them about the possibility of transferring Maddy's physio to the hospital closer to our home as well - we're travelling to the Children's hospital for that as well).

Thursday, the 17th, will be a big day for us all. For one, it is the first anniversary of when we first heard the words "skeletal dysplasia" - the day when we had scheduled the amniocentesis that we didn't end up having, the day that we first heard the news that Maddy might not make it. It's been a bit emotional, remembering all that was happening this time last year. Bittersweet, really. 

Then of all things, the hospital had to schedule an MRI on the same day this year! I'm not really looking forward to it - the MRI itself is scheduled for 3pm, but Maddy has to fast from 11am and we have to be admitted to the hospital at 1pm for the preparations. I know Maddy and she probably won't be able to get much sleep in between everything else, and usually if she's cranky but cannot sleep, a feed will settle her - but we don't have that option. I joked with someone that I'll probably be counting down to when she's sedated ;) So if you get a chance to remember us, please pray that Maddy has a fantastic morning and eats well before 11am so she is settled at the hospital rather than hungry, tired and cranky! The MRI is primarily to examine her hips and to see if we need to do anything more to manage them at the moment. 

The one appointment now that I'm really counting down to is on the 22nd. We will follow up with the pediatrician who cared for Maddy in the NICU. I'm sure that most of the appointment will be very routine, but I want to ask if Maddy is safe to fly now. I think she SHOULD be ok now, the ENT said that she most probably would be fine in a plane - but I want to know this doctor's opinion before we go booking anything. Both Bernard and I are in desperate need of a break, and as soon as we get the news that she is ok, we'll probably be booking flights back to Australia that afternoon! Bernard hasn't been back for over two years now, and for me it has been a year and a half. Last time Lana and I were there, Lana was ten months old and not walking yet! So here's hoping that March will see us back in Australia :)

And that's all the "medical" news I have for now! Until next time...

Dwarfism is not just about being short

When I talk about Maddy's condition to other people, one of the most common miss-perceptions that people seem to have is that they think that dwarfism is just someone who is extraordinarily short. If I look back a year, I may have thought the same. I don't know what I thought really, I guess I had never thought about it much at all. And I guess probably also many people reading this blog haven't either. I know that most of the people I know have never met someone with dwarfism before, and those people who DO know someone with dwarfism probably met me through Maddy's dwarfism so that doesn't really count ;) 

There are many, many kinds of dwarfism and each of them have their own serious complications. The most common form, Achondroplasia, not uncommonly leads to life-threatening brain stem compression requiring emergency brain surgery at a young age. Cartilage Hair Hypoplasia (the form of dwarfism that Verne Troyer, best known for playing Mini-Me in the Austin Powers movies, has) leads to immunodeficiencies sometimes needing a bone marrow transplant. Osteogenesis Imperfecta leads to reduced bone density that means that people suffering from this disease can have hundreds of breaks in their childhood. All of these things are extremely serious conditions - but yet when most people think of dwarfism, they usually have no idea about these complications. 

One of the most severe complications of Diastrophic Dysplasia is probably the possibility of cervical spine issues. If there is neck instability or severe curvature, damage to the spinal cord can occur at a very high location, possibly leading to paralysis or even death. If these issues are detected, spinal fusion is often necessary to prevent damage to the spinal cord, but that is not a surgery without serious risk. So far, Maddy's neck looks good so fingers crossed, we can dodge that one.

There are other complications with DD that we cannot avoid, and one such issue is very early degeneration of the joints, much like arthritis. One of my friends who has a five year old with DD was recently told that his hips look like the hips of a sixty year old with arthritis - but you can't just do a complete hip replacement on a five year old. He is in pain because of his joints. 

Because of the issues with their joints, most kids with DD need an electric scooter or a wheelchair to help with mobility. They can walk a bit - but they can't walk for a whole day at the mall or go hiking up a mountain or anything like that. Some people with DD could never walk independently, although they do manage to get around for a long time with crutches or walkers. With the knowledge that a wheelchair is probably inevitable for most people with DD sooner or later, it can be a hard thing to know when to encourage the little ones to get around by themselves and when to encourage them to use a mobility device. In the words of one of my DD mum friends, We thought it best to "save" some steps now so that she would be able to use them "later".

A side issue to this is, a wheelchair is NOT a horrible thing. For people who need wheelchairs, it gives them so much more independence than they could have without it. Most kids with wheelchairs love their new-found freedom and think their wheelchair is the coolest thing in the world! So if Maddy does end up needing a wheelchair, it's not something that people should feel sorry for her about, it will be like a new shiny bike or scooter to her and I know already that if it comes to that, she will love her chair! So don't feel sorry for us ;)

There are things that you can do to help with the joint issues - stretching, therapies, swimming is a great exercise since it doesn't involve any weight-bearing (I'm planning on starting Maddy on swimming lessons soon). Some of my DD mum friends recommend various supplements such as omega 3 and glucosamine helpful. My dad suffers from arthritis and also finds these to be helpful for him as well.

Recently, I've had a few questions/comments about "How is Maddy recovering?" and "I'm sure that everything will be normal and that she'll grow out of it", etc. Things like this completely floor me and I have no idea how to respond to it! (any suggestions??) For one, this is not something that Maddy will grow out of, and Maddy will not "recover" from it. Instead she will need to learn to adapt. Some people can't seem to process that Maddy will have long-term implications that will need to be monitored for the rest of her life, and want to "normalise" her condition by saying "Oh I knew someone extremely short once" or something of the kind. Maddy will never be just like everyone else (not even a very short person), but that doesn't mean that her future is bleak.

It's hard to explain Maddy's health to others - on the day to day aspects, she is extremely healthy and has been ever since she was two weeks old. Even when she was in NICU, she was as healthy as a horse. She's had colds being Winter and all, but she handles them fabulously - probably even better than Lana did at the same age. Some people have the misunderstanding that she is or was sick but that hasn't been the case. Yes there are things that are less than ideal in her little body but really, they are "structural" things and so far, she functions fine with them as they are.

Yet in spite of this, there are long-term issues for Maddy that we will need to continually monitor. No one can say yet exactly how everything will end up for her, so we will keep an eye on the issues that she does have and hope for the best. Whether or not she needs a wheelchair, whether or not she does develop issues with her cervical spine and needs spinal fusion. All these issues are so much greater than how tall she will be. And I hope and pray that whatever happens with the "structural" aspects of Maddy's unique little body, that she will always be as healthy and as happy as she has been for the past six months :)