Williams Syndrome Wednesday: Why research if there’s no cure?

by , on
May 7, 2015

Walker Day

I’m in the midst of doing some research focused fundraising.

There have been a number of people who’ve asked me if there’s a cure for Williams Syndrome, or if there will ever be.

For Alma, there will be no cure. The chain of 28 genes that is missing from chromosome 7 in her body can’t be replaced or repaired. It is a part of how every system in her body functions. One of the genes missing, the elastin gene, means the various tissues in her body don’t resume their shape after stretching or contracting.

If you were to suddenly replace the missing genes that caused her brain to be smaller than a typical person, with neuropathways that are larger in some areas than yours and mine, and smaller in others, her brain couldn’t suddenly revert to a typical brain.

There is some research that suggests someday, they may be able to use gene therapy to make a change in babies not yet born…but that’s a long discussion for another day.

Though the cause of Williams Syndrome seems simple, 23-28 missing genes – the ramifications of the deletion are far reaching – effecting most systems of the body.

But that by no means that research is futile in improving the lives of people like Alma who happen to have Williams Syndrome.

Far from it. There are people researching the best methods for teaching kids with WS to read, curing illiteracy and helping to increase the odds of future employment.

There are others researching why kids with WS suffer sudden cardiac events, often resulting in death, when individuals with WS receive anesthesia. This can mean the difference between life and death, even during simple procedures like having ear tubes placed.

There are folks studying why some have debilitating anxiety, why kids with WS have too much calcium, what techniques can be employed to help people with WS understand the difference between a safe person and one who will cause harm, how to make a friend and read social cues.  Others are studying how to manage the serious cardiac, gastro, endocrine, digestive, cognitive, behavioral, social, epidermal, intellectual and developmental challenges that come with WS.

And in turn, they are applying these learnings to unlock clues for other issues and syndromes. Some believe a ‘cure’ for Autism lies in the overly friendly personalities found in WS. And there are a host of other questions they feel can be answered by looking at the unique mosaic that is Williams Syndrome.

So is there a CURE? No.

Will the research make a difference in her life? There is no doubt.

Research is a CURE for despair and a catalyst for hope.

And who couldn’t use more of that?

Williams Syndrome Wednesday: A good day ain’t got no rain

by , on
Apr 30, 2015

almakisses

That Paul Simon knows some things about things.

“She said a good day ain’t got no rain. She said a bad day is when I lie in bed and I think of things that might have been.”

So one of my amazing sponsors gave some lovely kids books to The Auction for Alma. And one is called “Someday my Love” and it’s the story of a new mom and all the hopes and dreams she has for this baby girl.

Except she missed a few:

Like “Someday my love, I’ll hold you without all these tubes”

or “Someday, my love, I’ll hear you say Mama, and know the 2 year wait was worth it”

and “Someday, my love, we’ll go to a park that can accommodate your walker and you’ll play hide and seek with kids instead of stuffies”.

Plus “Someday, my love, you’ll have a friend”

And, not to give the book away,  “Someday, my love, when you’re hair is grey and I’m gone, maybe you’ll know, in your heart, I did the best I could. And hopefully it was enough.”

Yeah, the book doesn’t go like that. The baby arrives, and a page later smiles, then talks and runs and skips. The little girl rides a bike and has besties and then a beau. She has a little baby of her own that the storyteller gets to hold and love like her child all over again. And then the mom is gone at the end, but the girl has a college education and a family. She’s not alone.

There are no bumps in the road. No glitches. No bad days, boo hoos or why me’s.

I used to think that would be our someday before, you know, just before.

Now our somedays aren’t the kind that people write books about. They’re the kind that make people give the pity face, and the deep sighs when they hear about you.

i know this because I’ve been telling a lot of people about you these days.

But as I picked myself up this morning and dusted myself off, I recalled that our somedays aren’t yet written. And with the right amount of hard work and love and luck, our somedays could very well exceed my wildest dreams.

I really hope the person in the auction who gets the books has all the somedays they read inside. But, please know that  if you’re like me, and the somedays look a little different, there will be many, many good days that ain’t got no rain.

And nobody is gonna fault you one bit if every now and again, you lie in bed and think of things that might have been.

Williams Syndrome Wednesday: The Talk

by , on
Apr 23, 2015

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On this journey I’ve learned a few things. Ok, maybe a great number of things. But one of the most important things I’ve learned is that there are LOTS of pretty good days (even great days)…being a special needs parent isn’t all doom and gloom. But then, out of nowhere, when you least expect it, your heart breaks all over again.

This past weekend, the boy and I were out visiting local businesses looking for donations for The Auction for Alma. He remembers the auction from last year – we jumped into the bidding to secure the Lego set that had been in the house in the donation pile that he WAS NOT going to let go to another family. So bringing him on the walk seemed like a perfectly good idea.

Until he asked why?

“Why do we need to do an auction for Alma? Why can’t she ask for donations? What’s so special about Alma?”

And there it was. He knows there’s something about Alma.

He look up at me with those big old eyes and I didn’t quite know what to say. I got all welled up and took a deep breath and explained that when Alma was being created, all the pieces didn’t go quite in the right spots, like when you build a Lego set and miss a few pieces.

So she has a little trouble doing some of the things that other kids find really easy, like walking and talking, but otherwise, she’s just like everyone else.

Then he asked if that’s why she needs so many doctor’s appointments – something else I didn’t realize he’d noted – and I said “yes”.

And I had a little cry that I blamed on the wind. My heart broke over the need to have this conversation at all, and because there would be so many like it in the coming years. And that many of them would be far more complicated than this one.

The boy didn’t notice. He simply said “Oh, then I guess we’d better get a lot of donations so we can really help her out.” And then we kept walking and he jumped and skipped along.

I’ve learned that your heart breaks over and over again, at unexpected moments and in unexpected ways.

But when it heals, it’s a little bigger and a little stronger.

In the wake of every heartbreak there’s a little more room for courage and a little more room for determination and a little more room for love.

Williams Syndrome Wednesday: We become the parents our children need us to be

by , on
Apr 16, 2015

HangOnTight

I’ve recently been told I’ve really taken to this whole ‘advocacy thing’. Which I suppose is true, but doesn’t really say all that much about me. Other than that I am a parent. And that’s what parents do.

I’m quite certain that if you asked all the parents sitting at any given hockey rink at 6 am on any given Saturday, many wouldn’t have pictured themselves freezing their butts off 2-3 mornings a week. Ditto for the dad’s sitting at ballet recitals talking about turnout, mom’s debating the relative strengths and weaknesses of the Ninja who make up Sensei Wu’s team in Ninjago, or dog owner toodling around a park at 6:30am in the dark at -15 waiting while their fur-baby does their business.

I would never have guessed that I would be able to name every piece of heavy machinery at a construction site. But my son was a truck fanatic when he was two, and so I became a truck fanatic. It gave us something to talk about. It expanded his vocabulary. It was our thing, going to see the construction sites, chasing the garbage truck down the street. Sneaking behind the barriers of backhoes parked in the lane.

He needed someone to help him explore his passion for trucks and that someone was me.

My daughter is no different. She needs an expert in her syndrome. She needs someone to navigate the system to ensure she has all the services she can get to help her reach her full potential.

She needs someone to rage against a future that predicts that she will live in poverty, have an 83% chance of being sexually assaulted, but only a 34% chance of having paying employment.

Yep. Depressing right? It would be, if I didn’t believe it doesn’t have to be like that. If I didn’t believe the world can change…that things can change. That you can change.

I changed. How could I not?

My daughter needed me to become an advocate – for her and for every child like her.

So yeah, I really took to the advocacy thing. Just as this summer, when my boy joins his first team, I’ll really take to the Soccer Mom thing.

My #resumom just keeps growing. Champion of the construction site mom. Lego piece finder mom. Soccer Mom. Advocate mom. Speech therapist mom. PT mom. OT mom. System navigator mom. Williams Syndrome expert mom. World changing mom.

Or just mom. Just like every mom… or dad.

We all become the parents our children need us to be.

Obi’s Film Debut

by , on
Jan 15, 2015

My friend, the talented director Rob Quartly, was pretty interested in Alma’s story, the lore around Williams Syndrome and her super cute smile. So he created this lovely little film about our family to help spread awareness of Williams Syndrome. Have a look and share with friends. One day, no will have to ask me to explain what Williams Syndrome is. Through films like this, I’ll have already told them.

Enjoy!

[vimeo 108925607 w=500 h=281]

Williams Syndrome Wednesday on Thursday: Using my power for good

by , on
May 29, 2014

All the fundraising and workshop planning is going great. The auction closes tonight!!!

*http://www.32auctions.com/williamssyndromeworkshop*

But real life continues. Obi currently has a team of 14 doctors, specialists and therapists and this we added two more, which stung more than I thought it would… And her name came up for a preschool spot today. This specialized pre-school enrolls special needs and some ‘community’ kids (not special needs) and we’re going to check it out in 2 weeks to decide if we want to enroll her or stay on the wait list for another year.
Again, another moment of really realizing my little miss is a disabled child with special needs. I spend a lot of time compartmentalizing everything into immediate tasks and immediate needs and try not to spend too much time on the big picture – but this call with the preschool was very big picture.

Sometimes is all seems insurmountable. I had a little cry in my car after I parked at home earlier this week.

Then I got out, found 5 bucks on the street, and had a ‘it’s just life princess, ups and downs, ups and downs, suck it up’ moment.

While it’s true I can’t change that Obi has Williams Syndrome and I can’t change that there are gonna be days that it stings more than others, there are a few things I do.

I can raise awareness of Williams Syndrome. I can help connect families so we can share information and share the experience of living with someone with WS.

I can love that little chicken to bits so she never has to question her place in the world.

From the bottom of my heart, thank you to all the donors, the bidders, the sharers and the listening to me blather on incessantly about my fundraiserers. In doing all these things, you’ve used your powers for good too. For good and for Obi.

 

Williams Syndrome Wednesday: A shout Out to the Villiage

by , on
May 23, 2014

If you know me at all, you know that I am currently hounding people for silent auction donations and silent auction bids. I am a pain in the ASS. But I’m also committed to raising awareness for little Obi and that commitment requires funds. In this particular case, funds to help cover some of the costs for a 1-day educational day at Sick Kids in Toronto for WS families. A noble effort and a huge ton of work… but I see it like this: When you’re new to the neighbourhood – or in this case, a rare genetic syndrome – you’re not gonna meet people sitting in your house. You gotta throw an open house, invite them over and make some new friends. Or in this case, plan a work shop, raise a bunch of money, invite all the other people walking in your shoes and (hopefully) make some new friends.

I know, great idea right? But where is all this money going to come from? Enter “the village.” All the folks who are happy to step right up and help me raise my child. Not in a ‘change some diapers’ way, but in a “help me change the world” way.

People have been saying over and over again how amazing this is. I see myself as a Mum, perhaps a pretty proud of herself mum, doin’ what I gotta do for my little. But the rest of you…you’re not biologically programmed to help little Obi no matter what. And yet, you’ve stepped UP. Local stores where we shop regularly and businesses we interact with on a daily basis, big companies I have some kind of connection to (the whole 6 degrees thing), and random places I emailed out of the blue have been so very generous, and more than that, so gracious.

People have told me they are interested in her unique story, they are ‘taken’ by the video I shared with a number of kids, I’ve touched their hearts and it’s stories like ours that give them purpose. Wow, that is a whole lot of nice things to say. People I know have reached out to their contacts, pulled in favours, pulled strings, and donated out of their own pockets.

They have just helped. And of course I am grateful for the donations, but more than that, I’m grateful that this process is introducing me to a world that is embracing Obi. People are taking the time to ask questions, do research and learn more about Williams Syndrome. I could never have imagined the response I’m getting and it makes me feel good, deep in my Mom heart. I love that little chicken, and I want her to be able to find her way. But I almost feel that with so many people lighting the path, everything is going to be ok.

That is, above all, what I am most thankful for. Thank you to the village that is not just helping my child, but helping me in the process.

There are now too many sponsors to mention – some of which haven’t even been added yet. So if you want to see who all the great people and brands who are participating in Obi’s silent auction, head over here.

Maybe you’ll even find something that makes you smile.

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The long overdue review of Stokke Crusi

by , on
May 18, 2014

I’ve had the Stokke Crusi for about a year now, give or take. Which is a long time to take to get around to a review. I discovered the Stokke brand in 2009 when I was preparing for the arrival of the Bubble and googled best stroller for bad back. Up popped the Xplory. I was instantly sold, despite the hefty price tag.

Fast forward to April 2013. After a long winter of being stuck inside with obviously not typically developing Obi hiding out from RSV season, I set about getting a new Xplory. I already had an upgraded seat so I thought I’d go and buy a new chassis.

When I arrived at the store, there, in all it’s Black Melange glory was the new Stokke Crusi. It was a vision. I pushed it around the store, doing laps past the new version of my much loved Xplory and decided to forgo the stroller I had already owned for the new one – complete with sibling seat (with the intention that it could be used later when Obi started a nanny share like we had done with Bub.)Stokke Crusi 1

It is a wonderful stroller. It really is. It’s lovely. Turns well. Is easy to push. Sigh. But it’s not the Xplory, my one true love.

That being said, there is much to love and I’m certain that if the Xplory was not the one that got away, I would be wholly sold on the Crusi.

Crusi Blue

It really is an eye catching stroller, even though it has a more conventional look than the Xplory. It does have a large storage basket. (You can see my amazing Epiphanie Camera Bag in there) And it has a nice high handle.

Crusi Feet

Babes, especially those with low tone like little Obi do better when their feet can touch. The Crusi and the Xplory share the same seat design with the one hand foot rest adjust you can see here.

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Like the Xplory, the Crusi is one of the Stokke Connection strollers and I think you can see from this photo, the seat is HIGH. Obi loves to look people in the eye and this seat means she never misses an opportunity… except when she’s sleeping, like in this picture. It’s easy nappin’ because of the super easy adjustment of comfy seat positions.

Crusi Adjust

As you can see here, Stokke makes it easy to figure out how to make the stroller work by making all the parts that do something a different colour. The top push button adjusts recline and the lower one collapses the buggy for transport.

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Crusi is totally suited to our big city life. Obi’s caregiver pops on and off the transit, it has a cup holder for trips to cafes and for water bottles required for long beach walks. It’s easy to maneuver, did great in the snow this winter and has an adjustable handle making it easy for me to push and for her caregiver who’s quite a bit shorter.

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And of course, as with all Stokke products, the attention to detail and design is top notch.

There are a few little things that get on my nerves. While the 2 stage fold works for me because of the whole bad back issue, I find it doesn’t get super flat and doesn’t lock in the folded position. Not all that important because we have a big enough car but still not perfect. Also, I kick the crossbar when I walk.

Which I didn’t with the Xplory. Which folds flat. And locks. And well, is my first and one true love. Sweet Obi will likely be in a buggy for much longer than a typical kid, and with the latest version of the Xplory hot off the press, I may bite the bullet and buy that frame I was considering last year. No I am not made of money. But I have that second seat. And sometimes you just have to do crazy things for the things you love.

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If you like a slightly bigger basket and a slightly less avant garde but still high design look with the same amazing connection, quality and customer service you expect from a premium brand like Stokke, go for Crusi. And don’t forget the option for the sibling seat…(which I didn’t even touch on but we did use a few times when I brought the stroller home and found it would be great for 2 kids around the same age or close in age but was only so-so for my 3 year old who couldn’t understand why the baby got the top bunk and he had to be on the bottom. As this was my original intention – to have Obi have a nanny share before we knew she would do better with one-on-one care – it was a great feature and selling point, just not one that has been used to full potential) which is a nice addition to the Stokke line.

If you are me – loving the look, not needing that much space, not gonna use a sibling seat, have a slightly longer stride, knowing you did the right thing by letting your last Xplory go but wondering why the heck you didn’t just get the same thing over again, go for Xplory.

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At the end of the day, no matter what, if you choose a Stokke stroller (and I’ve had all three at one time or another) you will not regret your decision to go with Stokke – even if you pine for another model, late at night. You can read more about Stokke strollers here.

And, although I am an embarrassing super fan who writes on their facebook page a lot, all opinions here are about strollers our family has purchased and used.

Williams Syndrome Wednesday Really Late: Little Heartbreaks

by , on
Apr 14, 2014

I’ve had 2 rather unexpected moments – both really teary and both out of the blue. Sometimes I forget that I live this new and unexpected life. It’s becoming a normal life. Doesn’t everyone else walk in the door and find they’re forgotten an OT appointment and find the therapist halfway through walking lessons with their babe and her caregiver? Isn’t everyone up late scouring the internet for bouncy chairs for developmentally delayed sensory seekers who like you bounce? Did you not take a moment today to wonder if integrated or specialized SpecEd would better suit your child?

I did all these things and didn’t think twice about them (till now I guess, but whatever). I did however, find myself hyperventilating at a funeral last weekend when I saw my great aunts daughters grieving her loss and realized someday that will be Bub and Obi grieving me except she won’t be able to understand where I’ve gone. Oh yes, that was not pretty.

Then this past weekend I gave my cat up for re-homing. He has had a problem with kids since the boy was born and with the girl taking up more and more of my time and the cat having to be kept separate from the kids, kitty just wasn’t getting the love and attention that he deserved. So that was a hard decision but one I feel was ultimately best for him.

Still, standing at the counter, handing him over, I couldn’t help but feel how I’d let him down by my inability to care for him. Then, in the next moment, I was overcome by the feeling that one day I’d have to do the same for Obi – I’d have to arrange for someone else to take over her care as I would no longer be able to give her what she needed. I think I had an actual panic attack. My heart was racing. I couldn’t really catch my breath. I can’t imagine what the person I was giving the cat to thought. I had to say a quick goodbye and make a hasty retreat to go sob in the car.

Is this was lies ahead for us? It’s impossible to say. Just as it’s impossible to know what kind of education is best for Obi until we get there. Or whether any bouncy chair will do the trick, or if I will go before she does. What lies ahead is a thousand little celebrations of things I might have taken for granted in my old life, and a thousand little heartbreaks too. Some that will sneak up like these two, others that will be there the whole time, wounds that will barely heal before they break over again. Big sobs and lumps in the throat. Big whoops of joy and slight warmings of the heart. Just like any other normal life, I suppose. Any normal life.

 

 

Williams Syndrome Wednesday: Permission to Let It Be

by , on
Apr 4, 2014

Sometimes it’s nice to hear someone say “Things are ok as they are.” This week’s dose of chillax came from the special feeding clinic that baby Obi now attends.

Feeding has been a huge struggle right from day one. We finally got her eating pureed baby food at about a year. We’ve been trying to increase textures but not having any luck.

And do you know what the experts said? Let her eat purees. Thicken them slowly over months and months. Stop pushing her to move ahead faster than she can.

It’s ok.

You know, it’s not ok for me sometimes. It’s not ok that all her friends are running and starting to talk and growing so big and she’s still sitting tall, hanging out, screaming from time to time and eating purees.

It’s not ok for me, but she is perfectly happy. She’s doing what she’s doing. She’s loving life.

You know what else they said?

It’s ok.

It’s ok that you’re disappointed that things aren’t going as you planned. It’s ok that you feel sad, jealous, frustrated…whatever you feel.

They also said she looks good, healthy, feeding well, eating in step with her current development.

So I’m gonna stop trying a million ways to get her to eat what she’s not developmentally ready to eat and I’m just gonna feed her what she likes. Pureed food, some puffs, some pasta stars, some mum mum crackers and I’m gonna cut myself some slack.

And I’m feeling OK about that.

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