Rare Disease Day

First Time on Skates

It is Rare Disease Day!

In honour of this, I would like you to meet Owen- my 8 year old son. He has a rare genetic anomaly- specifically 11q23.3 (x4). Looks pretty technical when I type it like that! Here is a quick explanation of what it all means. Everyone has 23 pairs of chromosomes- these are the structures in each of the body’s cells that carry the genetic information (DNA) that tells the body how to develop and function. They come in pairs, one side inherited from each parent, and are numbered 1 to 23 approximately from largest to smallest. Each chromosome has a short (p) arm and a long (q) arm. Sometimes, there are errors within these chromosomes (missing genes (deletions), extra genes (duplications), genes that have ended up in the wrong spot or wrong chromosome, or structural differences like the arms being fused). All of which can effect how an individual develops.

In Owen's case, he is triple rare- 
1. He has a small section of triplicated genes (meaning he carries 4 copies instead of the usual 2) on the (long) Q arm of the 11th chromosome- at the junction of 23.3. Deletions are by far the most common issues, followed by duplications (meaning 3 copies)- triplications (4 copies) are extremely rare.
2. The second part of the rare equation is that it is found on the 11th chromosome. It can be a lonely chromosome. So far, the only known person (in the world) that carries the same anomaly is Mr Cleverly Disguised as Cake. Sure, there are other known syndromes on the 11th chromosome (Jacobson's, Emanual, Neuroblastoma, Ewing's Sarcoma, Ectodermal Dysplasia type 4) but none are exactly what Owen has.
3.The third part you ask? He's freaking fantastic! He has a number of super powers- like hyperlexia (the ability to read before being taught- in Owen's case, he was spelling words on my fridge when he was 2- even though he didn't speak until he was 5) He has a deep understanding of empathy, and the brightest, happiest attitude I have ever encountered. He sees the world from a different angle than most- which often boggles my mind and makes me think that I need to look harder to see if I can catch those things that escape me. He is a computer whiz- no password is safe from his enquiring mind. Perhaps the coolest part? The unique and not often found ability to fall down, grin, brush off the dust and start all over...WITH A SMILE.

"It's pretty slippery out here Mommy!"

He has his challenges. Feeding difficulties. Unique language. Hypomyelination in certain areas of the brain. Motor planning, control and coordination difficulties. And while these things can be tough on a little guy that wants to be in the centre of the action, he takes it all in stride.  Not much stops him from participating and enjoying in every moment of life.  And that is something that I am eternally grateful for. He is not dis-abled, he is differently abled.

So what does it all mean?
Well, nobody really knows for sure.

The one thing that I do know for sure?
It is frightening to hear a specialist say "we don't know" in reference to your child.  But it will not stop us from enjoying every moment of every day.

xoxo

Snow Day and Heavy Work

I don't know what the weather is doing where you are, but it feels like we've had nothing but bitter cold (minus 37C with wind chill!), freezing rain and more snow than we know what to do with since Christmas.  It feels like the kids have been on an extended holiday for weeks now because of all of the bus cancellations.  The mercury is so low that they haven't been having their regular outdoor breaks at school either.

Even the kids are wondering when it will stop

All of this is throwing a bit of a monkey wrench into our daily life.

The kids are bored but also full of energy. Which spells trouble. Are your kids driving you nuts yet? Are they a bit out of sorts?

Either we all need a vacation (not likely to happen) or we need to help them sort themselves out!

Looking for the "bright side"? I sure as heck am!

One of the best parts of being a special needs parent is learning some cool tricks to make things run a little smoother. I wish I had realized the mechanics behind this a long time before now- because I find it works wonders for all three of my kids and it is so simple to do.

Heavy work activities (i.e., proprioceptive input) are used for children with sensory processing difficulties to help increase attention, decrease defensiveness, and modulate arousal.

Oh yes, the snow IS WAIST DEEP!

Proprioceptive input is the performance of tasks that involves heavy resistance and input to the muscles and joints, and is essential in helping our bodies (both typical and atypical!) assimilate and process both movement (vestibular) and touch (tactile) information. This resistive input obtained through heavy work activities is generally organizing and can improve attention, arousal level, body awareness and muscle tone, as well as decreasing defensiveness.

And it's incredibly simple and easy to build into your day- especially in the winter months.

Are your kids a little out of sync? Dress them up in their heavy winter clothes- for some kids, the heavier the clothes the better this works. Take them out in the deep snow have them fight their way over the snow drifts! Stretch! Climb! Work it!

Oh yes- while they are out there, hand them a shovel.  Heavy work is about pushing, pulling, and lifting. I'm sure you could use a hand clearing the snow from the side walk and driveway! Grab a sled and fill it up with snow. Drag it around the yard a few times.

The Trailbazers hard at work

She tried really hard, but required a tow!

Connect and engage with your kids.  They are totally worth it! Snow days can be rough on everyone but I think that we owe it to ourselves to find positive ways to use the time we are given.

Do you have any tips or tricks for coping with kids on snow days?  Please share! I am dying to know!

Leave me a comment below- don't worry, I promise I won't bite! :)

No tears here! She's a very good sport!

The Year in Desserts

 It's been a long time since I have done a post dedicated mainly to the stuff that comes out of the kitchen.  I can't think of a better time to do it than during the holiday season.  My Facebook feed has a ton of what we call "food porn" pictures, but my blogging has been shoddy at best lately.  I have a TON of things to talk about- I just have not been able to find the time to get it all out.

Where does the time go?

It seems like only yesterday I had a toddler and a newborn. Suddenly I have an *almost* 8 year old and an *almost* 6 year old.  They are growing well, and learning lots, and not a single day passes that I don't marvel at just how wonderful they are.

So without further adieu, some of the best food porn of the year-

I'm not going to lie. There was an obscene amount of chocolate. It sort of edged it's way into everything. Sometimes, like in the case of these Triple Chocolate Espresso Brownies with Chocolate Sauce and Peanut Butter Cup Ice Cream, it was present in copious amounts, as well as many different types.

You may notice another trend- peanut butter.  I am not usually much of a fan. I will happily blame it on this divine indulgence. Pretzel base, peanut butter buttercream, homemade caramel topped with melted chocolate.  I'll admit- there were more than a few kcals in them but an extra lap of the track evened it all out.  It sort of naturally led to the next recipe. Oy.

Chocolate Fudge Cake with Peanut Butter Buttercream and Chocolate Ganache. Not too shabby. Even if I do say so myself.

Of course there were cookies.  And I mean A LOT of cookies. I think I counted 50 batches of plain old chocolate chip.  If you're counting, that is almost one batch per week.  Then throw in the various other cookies I made over the year and well.... Um. Let's NOT count. Let's just say that while I made a whole bunch, they weren't always made just for us.  

There were chewy brownie cookies.





And Milk Chocolate Chunk with Salted Cashews. Oh boy.  Totally worth it. Totally.








There were an awful lot of chocolate stuffed things after I discovered Chocolate Butter.  Think of Nutella, minus the nuts.  And then let your imagination take you away- chocolate filled croissants, chocolate stuffed french toast.

I know I just said Chocolate Filled French Toast, but I feel the need to say it again. And again. And again!








Ditto for the homemade Caramel.  It took a number of tries to get it right.  Thankfully it is versatile and my family choked it back not matter how much I complained that it just wasn't to my liking and that I'd have to make it again. It goes with lots and lots (and lots) of things. Like brownies.
And ice cream.
And chocolate.
And apple crisp.
And puddings.
And cheesecake.

Heck. Who am I kidding. It goes with everything.
Like oatmeal.

And Apple Grenades.
An apple, hollowed out and filled with vanilla bean ice cream and caramel.

Did I mention just how much I hate Pinterest?

Sigh.










There were buttertarts.  And pies.  And lots and lots of crumbles and crisps.

And that brings us back to Christmas again doesn't it?  I haven't even touched on the fruit filled delights of the summer.  I've left out a lot actually. And suddenly I feel the need to do another post based on all of the healthy eating we've done.  Tomorrow is another day- and I have a ton of pictures left to talk about!

Did you like this post?  Don't be shy!  Let me know what you think in the comments below!

Happy Baking!