Our Aussie Holiday snaps

Mid-June we headed off to AUS for a weeks R&R - Nate's first overseas holiday! While still recovering from his virus, he was well enough to travel, and after the week prior, we were all in need of some warm weather, some schedule-free days, and some sleep! And so off to Byron Bay we went :-)

As luck would have it, it was the year anniversary of when we first received Nate's diagnosis. Wow time flies. It is said the first year is the hardest, so let's hope that's the case and things just get better and better from here!

Here are some of the shots of our time away...

Nate in the Air NZ lounge - we picked the quietest corner we could!

Reading to Daddy (and all the other passengers!)

Disembarking with Mummy!

On the coast with Daddy

And with Mummy

Me and the BooBoo

Selfie x 2

At the playground, discovering the donuts!

And the swing!

Another day with the swing! Love it!

Swinging with Daddy!

Hitting the beach!

Not sure about this water thing - let me sit down in it!

Another day exploring the playground!

Trying the BIG slides with Mummy!

At Crystal Palace with Mummy

At Crystal Palace in their gardens

Hanging at our unit (taking a break from the Wiggles!)

Heading home, tuckered out!

 

Posted with Blogsy

Developmental expectations...what's possible?!

For those of you who crave understanding more about chromosomal conditions (come on, you know you want to!) please see the link below - it's an interesting read :-)

Click here for the article

It highlights the many types of genetic conditions, which include trisomies, mosaics, partials, duplications, deletions, rings and so on. I remember one of the doctors at Starship saying to us that individually Nate was incredibly rare (being one of only 110 known cases), but collectively that he was one of thousands, because of the many different types of genetic complications that can arise across the 23pairs of chromosomes. And with the recent advances in testing, it's amazing how many more are being diagnosed (albeit still rare on a world population scale). Fascinating stuff. And coming from a non-science-y person, that's saying something!

It also highlights how little is known about these rare conditions, and how what little research there is, is mostly on the medical front. There has been even less around the developmental potential, and how where there is, it often reflects extreme cases, or is questionably researched / summarised / referenced. Given this, it suggests that actually practitioners should err more on the side of positivity and optimism when breaking the news of a diagnosis to parents - after all who is to say what is possible and what is not - at either a rare genetic level, or at an individual child level? And it encourages practitioners to collate case studies that will help give more context and understanding in the future.

There is something to be said for that we think - although on the flip side, the shock diagnosis, it's delivery, and the lack of concrete information or future expectation, really did prompt us to really come to grips with the condition and seek out all information and opportunities that we could. Ultimately we think that has benefited Nate - we have started early intervention EARLY, and we are seeing the developmental benefits of this everyday :-).

So in essence this blog is our case study contribution. And speaking of which, here are some shots of Nate 'working out' at his various playgroups, therapy sessions and at home over the past week.....he's looking good, working hard on his crawling, standing, and supported walking :-)

Local Area Playgroup

Hanging out with Ildi at Conductive

 

 

Posted with Blogsy

An unplanned stint at Starship

Well so much for the planned sleep study! By the Sunday immediately prior, Nate was full of a bad head cold, so we were forced to cancel it. He was a very unhappy camper on Sunday night, and we might have got four hours sleep - between us all! But by Monday morning, he also had a mucous-y cough, was off his solids, his nose was streaming constantly, he was working harder on his breathing (faster and shallower while sleeping), and projectile vomited a few times after a very small lunch. Worried, we took him straight to Starship A&E.

After a few hours there (or was that 8 hours?!) where he was given six puffs of salbutamol every two hours to help him breathe, it was decided that we would be admitted. They felt that Nate probably just had a virus but given his respiratory challenges, it made sense to watch him more closely. And so off to Starship Level 6, Ward 26B we went...and by 9pm Monday night we had made it there. A long long day.

Chewing Daddy's collar in A&E

Cue three nights and four days in hospital, and an unhappy little BooBoo.

Salbutamol every two hours and then every four hours, day and night was the start of the treatment, as well flixotide junior morning and night. Sleepless nights resulted - Robin and I took turns staying at the hospital. Hard yakka!

By the morning of Day Two, it was felt he should also be on a steroid to help him fight the virus more quickly, so he started a three day programme of that.

The second night - in addition to the four hourly six puffs/6 breaths of salbutamol - the team also ran an overnight oximetry to check his oxygen saturation levels, and that was not a great night at all. For anyone. Nate desaturated quite a few times (the machine beeps loudly to tell you he has gone below 85% oxygen saturation - although thankfully he rebounds himself back up again), and he had an overall average read of about 92% which is not great. That result strongly suggested a need for Cpap support, which we have been off for some weeks now following a previous more positive oximetry result, so it meant another overnight test was required and a re-evaluation of next steps post that test.

Our planned upcoming holiday away was definitely looking like it wasn't going to happen - and these were the original babymoon flights that we first missed with my Dad's intensive care stint and Nate arriving prematurely, and then missed again after Nate's diagnosis and his respiratory challenges - we were starting to think perhaps we should just let those flights go!

On the upside, our little man retained his cheery spirit :-). Here he is up to his usual tricks...playing with and using what Nanny Sylvie had nabbed from the ward playroom - we had the best push-walker and high chair around and he adored them!

Reading to Claire on Night Two!

Enjoying the hospital high chair

Walking Dolly down the hallway

By Day Three, it was felt a chest X-Ray was needed, just to make sure the lungs were clear. Thankfully they were :-). Nate was also starting to perk up even bit, even though he was still clearly unwell. The prior nights oximetry result warranted another night in though, so we headed into our third night and hoped Nate would fare better. Our little man continued to be a happy little camper though, as you can see from the below....

Watching the cars from his window!

Cheeky snotty nose!

The third night the oximetry was much more favourable - an average of 97.5% oxygen saturation, which is 'normal'. Yay! So on the fourth day, Nate was released, with a continuation of his salbutamol until he has worked this virus through, and ongoing doses of flixotide junior as an asthma preventative measure twice a day.

Thank goodness for Nanny Sylvie, and Nanny Helen for helping us during the days - and to Claire and Mike, and Chris and Norm who brought us some dinners - much appreciated everyone! Here is the little man back at home and coming right - and just in the nick of time to allow us to take the long awaited holiday :-)

Back home and checking out my new tunnel!

Back home and on my stool!

 

Posted with Blogsy

Rare Chromosomal Disorder Awareness Week - Part II

A few little extra additions to a blog Update I did in early June around Awareness Week. With all that has happened in June, I hadn't had a chance to update earlier. This information was released by Unique, which might help people understand conditions like Nate's......

Our bodies are made of billions of cells. In each cell is a set of structures called chromosomes that carry all of the instructions (genes) that tell the body how to develop, grow and function.

A chromosome disorder is when there is a piece of chromosome missing, extra or when a section from one chromosome changes places with a section from another chromosome.

For healthy development, chromosomes should contain just the right amount of material - not too much and not too little. Even a tiny change can disrupt development, and may cause physical and/or learning disabilities.

A child-friendly way of explaining this is to use the metaphor of a jigsaw puzzle. Most children are born with all the right pieces that fit together just like a jigsaw does. But for some extra-special kids, they get a little extra jigsaw piece, or conversely might be missing a piece, and that is what makes them unique and special.

Every month 150 new families join Unique every month, as more and more children are being diagnosed with a rare chromosome disorder. In 2007 there were 5,000 member families, in 2014 there are now almost 12,000. There are many many different types of chromosome disorders within this number - the last official count of those with Nate's condition is 110.

Awareness week saw a lot of articles generated worldwide about these disorders. It is really great to see heightened awareness, and most importantly understanding growing worldwide, even though there is still a long way to go. (Certainly before we had Nate, we had little concept..... in fact I'd say no concept. Ah how times/lives change!)

Everyday I read of posts where trisomy kids or syndrome kids, have experienced some form of challenge beyond that of their particular diagnosis, or of what any parent would see as acceptable for their kids.

These range from discrimination of a child in a special wheelchair-pram from being able to eat in a restaurant with their family, because the restaurant has a no pram policy (be watching TV3 this week for more on that), to no funding be available to fund teachers aid support for a local 14year old who has the reading comprehension of an 8year old, and all his other milestones at the 6year old mark, because he is 'doing too well' to apply for funding (imagine the angst for the parents - how do you help your child?!), or even just straight out bullying of our special kids by others less-informed, less tolerant, or straight out ignorant.

Heartbreaking. And we hope hope that we can avoid as much of that as possible for Nate, although that will be a challenge and a half in the years to come. For example the latest NZ Government budget looks to take a further $300k out of the special needs money pot, and funding is already just about impossible to get. It's bad enough that these kids have to deal with all the medical crap that they have to manage in life. but all this other stuff too?? Come on world, we can all do better than that!!

Here are a few articles that might be of interest, certainly they have been thought provoking and meaningful to us....

Interesting article that challenges the 'as long as it's healthy' concept

Example of another diagnosis and link to Unique and Awareness Week

Great article about the challenge of processing a diagnosis, pre birth

Processing the concept of becoming a special needs parent

Article about Mara - I have Down Syndrome, I am not Down Syndrome

Looking outside for Monet the cat

First time at Jumping Beans

And favourite past-time, wrestling with Daddy

 

Posted with Blogsy

Rare Chromosomal Disorder Awareness Week

Did you know you are far more likely to have a chromosome disorder than win the lottery?! More than 1 in every 200 people actually have one (unbelievable we know) - some will only realise when they try to start families of their own, while others will have physical or learning disabilities that are evident from early on, and can range from mild to severe.

This week is Rare Chromosome Disorder Awareness week, the first in Unique's history, which celebrates their thirty years of supporting families worldwide with information and providing connections on such rare conditions. (Not sure I'm a fan of the word 'disorder' though - we go by 'condition' around here!). Anyway Unique is "the leading charity for chromosome disorders with 6,000 families in the UK, and 12,000 worldwide. Around 150 families join every single month. Unique has over 10,500 member families across 95 different countries!". Pretty elite membership though :-)

Click here for an interesting article about Unique and increase of RCD

And click here to watch a Unique film about children with RCDs

It feels like it has been a really busy month - both Robin and I have had a lot on at work, and we are both now looking forward to getting a week away in mid June. Let's hope it is as relaxing as we'd wish it to be with a 15month old in tow!?!

Having said that we've been trying to get out a bit with Nate in the weekends - we frequently do morning walks along P-Road, and the other week we took him to town to test out the stroller we got to take to AUS this month (didn't fancy taking our fantastic - but bigger, heavier, and more expensive mountain buggy one with us). While we were out, Nate insisted on getting a new Adidas Tracksuit.....wait, was that him? Or Robin? I forget :-).

Out and about testing my other stroller and modelling my Adidas trainers :-)

Rocking my new Adidas Tracksuit!

Health-wise Nate has kept well recently, and has his 15month old jabs and health check coming up soon. We're looking forward to getting his new height and weight measurements so we can track his continued good progress there. He has just picked up a case of what we think is ringworm (how we've no idea, as Monet is up to date on her treatments), so had a brief visit to the doctor today to verify that.

In terms of medical updates.....

• He didn't pass his recent hearing test (no surprise there), and unfortunately they couldn't get the accurate read on the hearing loss in his right ear as he wouldn't play ball with the test itself. To test the levels, they put earphones in his ears and play soft sounds through them - when he turns to the sound, an animal in an illuminated box to his right, lights up as a reward (think Pavlov's Dogs for those that studied psychology). Well the little monkey figured out the animals in the illuminated boxes were very cool to look at, so while he would sometimes turn to the sound, he would also randomly turn to check, in the hope of seeing the animal in the illuminated box anyway. Sigh! So it's now looking like he will have to have a GA so they can get a proper read of the hearing loss and then outfit him with an appropriate aid. My guess is we will be waiting another 3-4months for that now....kind of good to delay being out under while still so young, but then everyday we wait also impacts his speech development. So a double edged sword really :-(
• And we got the call today, for another sleep study next week. We're currently not due until September but we let the Respiratory Team know when we were last in at Starship that the Cpap wasn't really a happening thing, so when a cancellation came up, they slotted us in. So this coming Monday we go back in for a night of wires......hoping hoping hoping that he does okay without the Cpap machine. Please!!!

Regardless of all of that, the little man continues to be quite the charmer, as you can see from the pics below...

Modelling my new cardy from Granny!

Holding my own bottle with Nanny Sylvie

Chilling with Daddy before bed

Nate has also been doing well at the local Playgroup, having attended 3 or 4 times now with Nanny Sylvie. We think it will be a regular addition to his existing therapies - he is still seeing the CDT physio, goes to Conductive Education weekly, sees his private physio about once a month, attends a Developmental playgroup for chromo kids which has physio support, has private speech fortnightly, and will likely soon start Jumping Beans if he can manage the activities, and possibly music therapy too if we can afford it. And swimming in the warmer months too - we're on a waiting list. Here is his very first painting from the local playgroup.....followed by a few of the more recent.....clearly the little man has some skills :-). Plus I'll post some pics from his playgroup in the weeks to come of him in action :-).

One of Nate's favourite times is still bath time, which is a great time to work on his vocalisation too. He is always very excited!

Nate has long had an interest in Apple products (well, 'long' as in the last 4-5 months anyway), and has always grabbed at any going - Mummy's, Daddy's, or Grandaddy's. Lately he has progressed to swiping the screens, although no one has been brave enough as yet to offer up their lock-screen pin :-). Here are a couple of his first selfies....

First selfie while hanging in the GP's waiting room!

And another, far too early, while Mummy and Daddy try to keep sleeping :-)

Some small progress on the house the last couple of weeks, but we expect June to bring a lot more. Below is the recently cleared and mostly flattened back lawn area - now all it needs, are more railway sleepers, some more flattening, some trees planted for the council, and oh yes some lawn! Definitely planning to hit summer next year on this one, as I think Santa might be bringing Nate a trampoline (good for the muscles and tone, we hear!).

Cleared back lawn off the deck area

Even soil down the side of the deck

And this week the laundry and the master bedroom wardrobe go in (I'll add a couple of photos over the next couple of days), and hopefully the painting also gets finished off. And maybe if we are extra lucky, the front planter boxes might get done too (that one feels like it's been the longest job in history, and with the wet winter weather coming, finishing it gets that bit trickier). And the fencing also gets done around mid to late June too, which will be great - goodbye purple fence! :-)

 

Posted with Blogsy