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! :-)

 

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