A FIRST - a Trisomy 9 Mosaic Kiwi get-together!

After a failed attempt last year (kiddos with bugs), we finally managed to catch up with the other Trisomy 9 Mosaic families in New Zealand. There are currently FOUR kids in New Zealand with T9M (at least that we know of), which is a lot, considering that globally each T9M child is literally one in a hundred million!

Having said that, there are SO many different types of genetic conditions (across 46 chromosomes or 23pairs, from small deletions or duplications, from partial to full copies, from balanced translocations to unbalanced etc), that separately they seem very very rare (about 155 T9Ms globally), while combined they are actually far more common that you would typically think. Not all of these are severe either...many people don't even know they might have some genetic anomaly themselves. Check out these facts....

So pretty special to have 4 in one place at one time! Interestingly enough, each one of these Kiwi T9M kids are about a year apart in age too. The oldest is Tegan at 4years of age (parents Jackie and David), then Amira who has just turned 3years (parents Andrea and Mo), our Nate who turns 2 this coming week, and Lily-Grace who is 10months now (parents Warner and Amanda). Three girls and one boy so far. All just beautiful kids, and so lovely to have everyone altogether in one place!

Check out some of the photos below.....

Getting to know each other better over lunch

Celebrating Amira's 3rd birthday!

Amanda feeding Lily-Grace

Attempts at getting shots of us altogether...minus the respective photo-takers that is...

Mo with Amira, Jackie with Tegan, David with Georgia (non T9M), Amanda with Lily-Grace, and me with Nate!

As above, but also with Andrea (Amira's mum on the left)

As above, but including Warner (Lily-Grace's Dad), and Robin with Nate instead of me

Kiddies having a play on the mat - Nate, Georgia, Lily-Grace, David holding Tegan, Jackie in the background, and Warner on the right

Nate and Lily-Grace

It was just so awesome to finally meet these gorgeous kids and their parents, after many months of chitchat over a closed Facebook group (which Jackie actually set up for T9M families all around the world). Amazing how different our respective families are, and yet how a shared diagnosis of Trisomy 9 Mosaic can bring everyone together so well :-). We spent a lovely lunch, shared in cake with birthday girl Amira, and spent a few hours talking, sharing stories, comparing meds, discussing development challenges and solutions, and watching our kids hang out altogether.

But one of the BEST things about the catch-up, was the opportunity to hang out with people who actually 'get it'. 'It' being the challenges of raising a special needs child, the emotional angst of wishing with all your heart that your child didn't have to deal with this, and the ongoing challenges with getting the support and help that our kids need from 'the system' (be that medical, developmental, or aid support). People who understand what words like cpap or airvo, desaturations, reflux, hypotonia, or what global development delay actually means, or who can use makaton signs! We even touched on what I personally find the most worrying of all topics (yes I know I've mentioned it before - it's a bit of a recurring worry!), around how we ensure adequate care for our kids when we are gone. We don't even know the answer to that. But as older parents, that was pretty concerning for all of us :-(.

But that last point aside, it was great to be able to relax and hang out with a bunch of other parents, who share in the below. Who absolutely get it. Who fiercely love their adorable kids, and who will do whatever it takes, to do the very best possible for them....

Thanks for a great day.....Jackie, David, Tegan,and baby Georgia,....and Andrea, Mo, and Amira,....and Warner, Amanda and baby Lily-Grace! It was just so awesome to meet you all - looking forward to next time!

 

 

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Nate and his BFF, Aunty Helen

We haven't written much about Nate's 'Aunty' Helen as yet, but we really should have. Beyond Robin and I, the girls, and my parents (all of whom dote on Nate on a daily/weekly basis), Aunty Helen is a firm favourite with Nate - he simply ADORES her!

Helen is the girls' Mum, and as family, she jumped in to help us out with Nate late last year when our Nanny left us rather suddenly. Helen happened to have some free time, and offered to help us out. And very quickly, Helen has become one of Nate's favourite people in the world!

As Nate's BFF, Helen spends some time with Nate every week, taking him to all of his various therapies, and spends lots of time each day helping his speech development too. Helen also takes him other places to, like the local library, the local park and paddling pool, and even Daddy's old football ground. Nate just adores hanging out with Helen - it's amazing to see how far he has come!

Check out some of the photos of Nate and Helen in action on just some of their many escapades.....

 

Very few people are allowed to 'share' Nate's mat....Helen though, well now that's fine!

Tunnel time with Helen....

Out and about with Helen, having a run around Daddy's old football ground......

A happy little man at the park, during a spot of dancing and horsing around....

Handstands!

Some snaps from just a few of his many trips to the library with Helen....

I think this book is in the wrong place!

I'll pop it over here instead!

Too. Much. Fun. !

Mischief alert.....looking, scanning....

Library mates! So exciting!

Who me?

With Helen, at Conductive Education therapy, playing with Ildi....

And at the park having a 'selfie' on the swing with Helen......

We know some people might think this modern age of blended families, is a bit odd! But it seems right to realise the concept of extended families in its fullest sense. Family is family after all! And it totally works - Nate and Helen adore each other!

It's lovely to have the happiest of little boys, who gets to experience lots of fun and adventures! Like the other day when they went to the park and did some dancing (yes, public dancing), as well as some running around and wrestling - a very happy wee Nate came home with a scraped knee and a grass stain on his shorts - totally brilliant, the real little boy stuff we all dreamt of and hoped for! :-)

We really are blessed to have 'Aunty' Helen in Nate's life - thank you Helen!! Xx

 

 

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More holidays with Mummy and Daddy - Week 2

For the second of those weeks on holiday, we had the absolute luxury of borrowing some close family friends lovely holiday home in Onetangi on Waiheke Island (thank you Jenny & Steve!). Spectacular! A relaxing idyllic beachfront haven. We had a week filled with exactly the sort of cool stuff that you don't get to do when you work full-time.....here are some of the snaps....

Nate's private pool

Every morning we walked down to get a coffee at one of the little cafés along the road, with our little man in his trike. He loved it!!

Time to go, enough photo-taking!

Here are some of the shots of the little man hitting the beach on various mornings, some days with more success than others....(mostly affected by how recently he was fed!).

A morning meander and swim with Mummy and Daddy...

An afternoon on the beach.....

Getting near afternoon tea time, and no yoghurt or bottle in sight here! Grumpy!

We enjoyed a lovely lunch at Mudbrick with Granny and Grandaddy to celebrate their Wedding Anniversary (that was on the 31st Dec)....gorgeous day, a lovely Viognier, and some yummy sharing dishes. Divine!

We managed to fit in a couple more vineyards during our week too - a lovely lunch for Robin, Nate and I at Casita Miro, and another lunch at Passage Rock with Granny, Grandaddy, Mia, Ruby, and Mia's boyfriend Jordy. Sadly no photos taken, other than a few of Nate, Mia, and Jordy enjoying the trampoline at Passage Rock....

We also to ate out a bit at Granny and Grandaddy's - nice to be able to just pop around to their place with ease. It was tempting to leave the little man there for a night, but we didn't, knowing what a monkey he can be!

Playing in Granny's trolley

Showing Grandaddy how to work the lid...

Playing 'boo' with Granny..

Here he is teaching Granny and Grandaddy how to dance to his favourite Wiggles tunes....skills!

Here is Nate playing his favourite game - chasing Grandaddy! Whether he is at our place, or Grandaddy's place, it's the first thing Nate wants when he sees Grandaddy! He also LOVES to watch these videos of him and Grandaddy over and over again - gets excited all over again!

We kicked back and ate some good food, and drank some nice wine - including a lovely bottle of 2004 Wolf Blass Grey Label that Robin and I had bought when we were in the Barossa in January 2009. Yum!

Cuddles on Granny & Grandaddys deck

Too funny!

And the fish was THIS big!

Butter wouldn't melt....

Robin and I also had a quick look at the sculpture walk on the headland. It's a walk that is set up every second year at Waiheke, and there are some amazing pieces.....here are our favourites of this years...

All in all a lovely short break away, before 2015 gets too much away on us. Nate continues to be (mostly) healthy, and our focus continues on his development.

Physically he is getting much stronger and is back at Conductive Education, and Jumping Beans this term to help further with that - along with all of his trips to the park, and out and about, that he does with Helen. We have also enrolled him in Music Class this term, which after two classes he already seems to adore - loves to dance (or 'drop his butt', as we call it), and get as close as he can to the teacher with the guitar. We also tried a group swimming class, but that proved a bit overwhelming for Nate, so we've canned that for now, perhaps in another six months we'll try that again.

But our main focus for this term will continue to be speech - we've had the support of Emma from the CDT helping us the last few weeks and we have a couple of sessions left with her. We will also continue with private speech as much we can manage. At 23months Nate speaks very little (really just 'more' or an approximation of that, and 'round and round' for his wheels on the bus book). But we occasionally get an 'up' and and 'elmo', which shows improvement, even thought its not often. His signing however is coming along very nicely and we are starting to try to learn some new signs so that we stay ahead of him! Our big hope for this year though, is that it brings with it some serious speech development for Nate.

Let's leave everyone with some more summer fun....

 

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