Saturday, November 9, 2013

A House Update

The house continues to make good progress - in fact we will be in by the end of the month! Some busy days and weeks to follow sorting the last of that, and then hopefully everything will calm right down - and just in time for Christmas :-). Latest shots from earlier today.....

Garage door in, exterior paint still to happen
Box window roof & windows still to be replaced
Stairs and porch still to be done
Nate's room about to be painted
Master bathroom about to be painted
Looking from hall towards the kitchen & lounges
First coat of paint in the kitchen/lounge
First coat of paint on in the formal lounge & dining room
Looking back towards the front door
Painter at work in master bedroom

And check out the kitchen! We had the very talented Kira from Fyfe Kitchens help us out with the design and manufacture - we couldn't recommend her more if any of you need kitchen expertise. Here are some of the work in progress pics of what is in so far....(although all the walls have also been painted as of this week too)....

Kitchen cabinets and bench minus appliances, large island and splash backs
Scullery

And then of course, there is tradition......:-)

Master bedroom roman blind fabric
Master bedroom curtaining fabric
Master Bedroom Sanderson wallpaper

 

Friday, November 8, 2013

Sucky news. Must be our turn?!

Well things were obviously going just TOO well.

Last night we ran an at-home overnight oximetry test, after we requested to Starship that one be run this week before our next Respiratory appointment, which thankfully happens to be next week.

Nate has always had noisy breathing and snoring, and has subsequently been through a sleep study, where he was diagnosed with sleep apnea and periodic breathing. He then had a stint on cpap (until the doctors decided it was less obstructive apnea and more central apnea), and is now on caffeine therapy twice daily. His hypotonia is also thought to be a factor within his apnea, which is meant to improve as he grows.

However in the past week, Nate's breathing overnight has been more worrying than normal. So much so that Robin and I have both been up at night checking on him. At times his breathing has sounded very laboured, other times wheezy, often quite shallow, and at times very noisy. It often seems like he is struggling to get oxygen, and last night's test basically confirmed that. In fact he de-saturated so many times (oxygen levels in the blood drop), that the oximetry machine basically didn't stop beeping and flashing its red light most of the night. I turned it off at about 3.30am, as after lying there watching the numbers for a bit, I figured that the doctors would have more than enough data to know there was a problem.

Yes comforting stuff I can tell you. (Whoops the sarcasm is back).

Anyhow we are now back to Starship for another overnight sleep study early next week, followed up by possibly more nights, depending on what comes out of the study. Maybe Cpap again, or maybe it will be a move to oxygen overnight, or maybe it will now be a combo of both. Who knows. But unfortunately it's not likely to be as simple as caffeine. Bugger.

Thursday, November 7, 2013

Physio does NOT always equal fun!

Propping on ones arms, and looking at his plethora of toys, is unfortunately NOT what Nate calls fun! At times you have to harden your heart, grow thick skin, and just keep pushing him through it :-(

Mummy I've had enough for now!

It's just SO much easier for him not to do it - which is precisely why of course that he must do it - to build his muscle strength, so that he can try to offset his weak tone as much as is feasibly possible. We use all manner of tricks to try simultaneously distract him and help him - from the TV, another person/face to look at, a noisy toy, his music box, a book, moving toys, and so on - sometimes that works, and sometimes it doesn't. But we pull out all stops trying :-).

By comparison, a typical baby might do tummy time 2-3 times a day, and would develop in strength quickly. I read somewhere that a 7month old typical baby should be able to lie on prone for 15minutes at a time (general rule is of twice its age, plus one minute). Generally they can also roll and sit by around about this age.

Nate does physio at least 3 times a day, but is unable to lie on prone (either unsupported or supported) for a full 15minutes even once in a day. He is also still unable to roll, or to sit unsupported. Physically though, he is on the 50th percentile of 'typical' babies for his height at 68cm, and is now tracking just above the 25% percentile for his weight (7.64kg as at 34weeks or 28weeks adjusted, taken on the 6th November).

When comparing Nate to other T9Ms around the world, he is neither ahead nor behind what others seem to have experienced developmentally at this age - inspite of their differing levels of Mosaicism, the T9Ms generally seem pretty consistent at this early age. I don't find that overly comforting, as you always hope you have the exception!!

As I have mentioned before, the impact of the hypotonia (or low muscle tone), will be a delay in his ability to hit his early milestones. This then has the ongoing impact of delaying the later milestones. For example you usually can't walk, until you can roll, sit, crawl, and pull to standing. The delay in these gross motor and fine motor milestones, then results in a delay in cognitive development, which is due to the lack of discovery and engaging with the world around them through active movement. The 'developmental gap' between a typical and a trisomy child, generally then widens further over time.

So you can see why early intervention is a MASSIVE focus. The goal being just to limit the developmental gap. We try to do all that we can around this - currently that consists of sessions with the CDT physio, private physio, conductive education, and the early smiles programme. However the bulk of the hard work is the at-home physio that goes on around these sessions - which has to be driven by Robin and I, Nanny Sylvie, and Granny & Grandaddy. The repetitive three times a day of 25-35minutes - minimum - is an absolute MUST.

However in reality, it is unlikely that everything that we are doing will be enough to stop ALL of the possible developmental impacts for Nate. Of the 100 odd T9Ms in the world, there are only one or two 4-5year olds who are currently within the realms of 'normal' or 'typical' for their age. But they are still proof that early intervention, a committed focus (combined with potentially less trisomy cells within key organs like their brains!), is worth its weight in gold.

We hope that if we continue to throw everything we have at it, that it might be enough to stem the tide of at least some of the developmental delay. Convincing Nate of that, and maintaining that focus day-in day-out, will be our challenge!

Anyway here are some shots of our little man in action over the past week......x

Practising sitting at Physio
Lying on his tummy at Conductive Education with Ildi
Sitting at Conductive Education

 

Friday, October 25, 2013

Heart & Kidneys (LOVE ya BEAN!)

A GREAT news day! Results are in.......ta-da-da-dah.....

Nate has a completely normal and healthy heart!
And his kidneys are now completely normal too!

So while we still have some respiratory and ENT challenges to work through......this week we got the BIG TICK on Nate's heart and kidneys! Some pretty happy folks in the Ryan-Chang camps this weekend :-)

Nate 33w old (27w adjusted)

 

Sunday, October 20, 2013

House update as at the 19th October

The latest photos for those overseas who are wanting to see the progress. Mia and I popped around on Saturday to snap some progress shots, as did Robin and Ruby on the Sunday. Lots of progress happening now!

The view of the 'circus top' from the top of the street
And looking up the street
Garage door to go in this week
Looking out the garage opening
Garage storage area
Downstairs hallway, Mia in the wine cupboard!
Mia in her room
Mia in the Master Bedroom ensuite
Looking left to the wardrobe
From the hall into the kitchen & lounges
The kitchen!
Looking towards the scullery
In the scullery
The formal lounge/dining area
Mia in the formal lounge/dining
In the informal lounge

I think I have to end on a curtain fabric now, seems I've started a trend?! Check out the roman blind fabric for the upstairs guest room and the girls' rooms (although the girls will have the beading added too). Slowly coming together :-)