Tag Archives: chromosome disorder

February 1, 2013 · 08:58

Gracie is a kinder girl now!

Gracie's off to kinder

Gracie’s off to kinder

In a short life of many milestones, Gracie commenced 4 year old kinder last week. She’s going to the University of Melbourne Early Learning Centre, a positively brilliant early childhood education facility.

Her big brother Max attended 3  year old and 4 year old kinder there. He feels kinda weird coming with me to pick her up at the end of Gracie’s new kinder day of play, learning, laughing, exploring, rest time, snacks, play, and exploring. She positively runs in to the class in the morning to the open arms of her teachers Suzanna and Amy. The teachers at ELC are all university qualified early childhood education teachers, but not only that, the teachers we have had first hand experience of with Max and now Grace are all such lovely warm-hearted, empathic, and fun to be with people.

With the assistance of Gracie’s Early Childhood Development Team at Melbourne City Mission Thornbury, ELC have applied for KISS funding to employ a suitably qualified early childhood education professional – either from within the ELC staff pool, or from outside – to directly assist Gracie throughout her kinder day. A decision will be made by the Department of Education and Early Childhood Development by the end of next week.

In the mean time, Gracie is having a ball. She was always a good sleeper; now she collapses into bed at night, exhausted. Reports so far from her teachers are that she’s a delight to have around, although I get the feeling that some extra support will be very helpful. The teachers are so child focussed in normal circumstances, they are going above and beyond with Gracie – her limited verbal communication, and propensity to get bowled over in the rush has required her teachers to doubly focus their attention on Gracie – which I can understand would be a bit tiring.

We haven’t connected with Gracie’s classmates ( or their parents ) yet, but her peers are connecting with her already. Max and I came to pick her up yesterday. While the rain sprinkled down, her class were sitting in a circle under the verandah with their teacher Suzanna, singing songs. When Gracie finally tore herself away from the group, after hugs and kisses from Suzanna, waving goodbye wordlessly to her new best friend classmates, a number of her new best friends just got up off the floor and one by one came over and gave her squeezy hugs goodbye.

Priceless.

It’s going to be a great year.

Leave a Comment

Filed under Chromosome 18, Daily reflection, Family, Uncategorized

Tagged as , , , , , ,

August 28, 2012 · 16:07

Time to reflect: Gracie at 3 and a half

I subscribe to the Raising Children Network, an Australian site that has a vast amount of information on the development of children, and also a series of online forums that cover every aspect of not only kid’s development, but parenting as well.

Every now and then I get a subscribed message in my email inbox with a short snapshot of where my children ‘should’ be at in their individual development. The advice is well presented, and has often been quite timely, as the kids have ticked off a few milestones in their so far short lives.

The snapshots of where Grace is at at different milestones have often been interesting reading. Frankly, there’s been a bit of pain involved, as at times, within the bell-shaped curve of ‘normal’, Grace rings a different kind of bell. But when I do check where she’s at – and yes, even though she’s only 3 and a half, give her time – Gracie isn’t that wide of the mark in her development.

In a nutshell, from the Raising Children Network site info on Preschoolers, this is what a 3 to 4 year old is up to:

“Three-year-olds increasingly know what they want and can express what that is” – Gracie always knows what she wants, she just has an unconventional method of expression.

“She’ll persist with a wider variety of tasks, activities and experiences, and will keep working to complete a task even if it’s a bit tricky” – oh yeah, that’s Gracie all right!

“Your child is continuing to seek and engage in sensory and other experiences. She’ll enjoy listening to stories, playing with friends and going on trips to new places” – yep, Gracie loves story-time in the evening, she loves playing with her 8 year old cousin Tayla, and Gracie is always up for a new experience.

“Your child is becoming more flexible in problem-solving and thinking through alternative options” – just 2 days ago, after her Monday morning swimming class she put on her own shoes; she just kept trying until she got them on.

“He’ll still understand many more words than he says” – am I blind to continue to believe that’s the case for Gracie? She continues to seemingly understand simple conversations connected to simple actions, such as eating, bathtime, play, and so on.

“Your child might begin to use more complex sentences that include words such as ‘because’ and ‘that’” – Mmm, not yet.

“At this age, your child might tell stories that follow a theme and often have a beginning and end” – ditto.

“She’ll understand directions that have more than two steps, as long as they’re about familiar things” – absolutely, for example, ‘Gracie, could you get the box of tissues and take them to Mummy?’, yes, she can understand and do that without any problem.

“From 3-4 years, your child will show more control and balance when he walks, climbs, jumps, hops, marches and gallops” – not yet, but Gracie loves the local adventure playground.

“Your child will be better at balancing, allowing her to ride a tricycle or bicycle with training wheels” – Gracie’s balance is still a bit wonky, but she doesn’t know the meaning of ‘give up’. At her Monday swimming class, one of the activities involves the kids climbing out of the pool, walking along the side, then out over the water on a floating rubber mat to jump in the water. Like a character from The Thunderbirds, Gracie slowly gets herself out, staggers along the side of the pool holding my hand, then flops onto the mat to slide in the pool. She’ll keep having her turn, when some of the other kids have already given up.

“Children this age are becoming more independent too, as they begin to have real friendships with other children. They’re also learning to recognise the causes of feelings and will give simple help, such as a hug, to those who are upset” – I’ll never forget the time Gracie consoled her big brother Max, who was experiencing a tearful episode of self-pity one day. Sitting on the lounge-room floor at home he was balling his eyes out. Gracie came into the room, sat on the floor next to him, reached  into a nearby basket of washing and dabbed his streaming eyes with a shirt, then stroked his arm. Priceless.

“At three, your child will show an interest in other children and copy what they do” – oh yeah, Gracie loves her big brother to bits, and if he’s doing something that looks vaguely grown up, she’ll copy it, especially at the dinner table. It occasionally frustrates Max, but he doesn’t really mind.

 

And the one thing Gracie loves to do above all else?

Gracie loves to dance.

Here are a couple of examples; the first one is when Max was having dance classes (although he’s since moved on to a children’s performing arts company).

 

 

 

And this one’s the most recent, Gracie as the Singin’ In The Rain Fairy. And big brother Max gets in on the dancing action too.

 

 

 

 

Priceless, and precious…

 

 

 

 

Leave a Comment

Filed under Chromosome 18, Family

Tagged as , , , , , , ,

November 22, 2011 · 20:07

Can a rare chromosome disorder be a rare gift?

Chromosome disorders don’t happen overnight. You don’t catch a chromosome disorder. You’re born with it, and you have it forever.

When our daughter Gracie’s pediatrician carefully, resolutely, and with a disarming and confidence-inspiring smile gave my partner and I the news late in 2010 that Gracie did have a chromosome disorder, it’s not overdoing it to say that we began a grieving process that will probably go on for some time yet.

My heart missed a beat or two for probably 15 minutes.

While I listened to the pediatrician tell the story of the rare disorder that Gracie has, and how the genetic testing was accurate – ‘there’s no doubt about the results‘ – one side of my brain was gathering in the facts, and the other side was going – ‘No! But she looks OK! She might be a bit delayed in her speech but she’s not abnormal! Does her beautiful smile hide some terrible truth?

While Gracie played with the well-worn well-loved toys around our feet in the pediatrician’s office, she didn’t stop being the girl she was before we entered the office on that fateful day. Gracie was smiling, happy, sad, hungry, tired, curious, giggling – everything she had been since she was born. None of that changed on that day. Nothing was actually taken away from her on that day.

If anything, what was taken away (in my head, at least) was any certainty about her future life panning out in the ordinary way that you expect an ordinary child’s life to do.

From that moment Gracie was no longer ordinary; and yet she was and still is, a little girl with ordinary needs. She’s ordinary, extraordinary, and rare.

A rare disorder isn’t ordinary, by definition. Gracie’s conditon occurs 1 in 40,000 live births. And yet her needs have always been quite ordinary. Luckily Gracie hasn’t needed the range of interventions that some children with rare genetic disorders do require. Sure, she’s getting physio help and speech therapy from the lovely crew at our local Early Intervention Service. Oh, and she now has orthotics for her feet. She just missed out on getting growth hormone treatment; phew! so no daily injections from me until she reached puberty.

So if Gracie is a mix of the ordinary – in her needs – and the not ordinary – in her condition, how could her condition be a gift, even a rare gift?

Well let me tell you.

The gift – and I will only speak about her as I see it – is that even though Gracie finds daily life difficult: she’s hungry, and can’t eat enough; she’s not hungry, and isn’t interested in food no matter what we do; she can’t run around after her big brother or her cousins, she’ll try though – stomp, stomp, stomp, stagger, trip, fall, up again, stomp, stomp stomp; she can’t tell us what she wants, or likes, or desires, or fears, or loves; she gets a mild fever sometimes, and that means she’s wasted for days afterwards…her special and rare gift is that she won’t give up.

Gracie wakes up smiling. Nearly every day. No matter what.

She just keeps trying, quietly trying.

She just will not lay down and mope in the corner. She’ll play by herself quite happily. She’ll flick through books from Max’s shelf, contentedly looking at the pictures, words, shapes, colours. She’ll stab at things on the page with her finger, look at me, and make a noise: “Yes”, I’ll say, “it’s a ball, a duck, a fish, a tree, a rainbow.”

Walking independently has been her biggest acheivement so far. We tried to help her, but she just did it herself. Running her hand along the passage wall to steady herself; pushing a little laundry trolley or block trolley in front of her.

She’s learned a handful of important signs from Auslan: drink, eat, more, down, finish, what?

And the best sign she’s learned isn’t Auslan. It’s blowing a kiss hullo or goodbye.

Gracie will be 3 years old in February 2012. The journey has only just begun. Who knows what the future holds?

Like any child that comes into the lives of Mums, Dads, brothers, sisters, Gracie has brought a rare gift, despite – and at the same time, because of – her rare condition.

12 Comments

Filed under Chromosome 18, Daily reflection, Family

Tagged as , , , , , , , ,

August 9, 2011 · 01:03

Even if I lack #resilience & #courage, could my kids have some please?


I’ll be honest, I was brought up soft.

The youngest of 4 siblings, by the time I came along, my parents had enough disposable income to spoil me in a way that my elder sibs could not have dreamed of. I drifted through school, and only pursued what interested me. In short, I had a ‘typical’ middle-class upbringing: violin and piano lessons, education at an independent (private) school, an electric train set – when my brothers only had a clockwork one, and so on.

Family life was also insular, in that apart from the usual visits at birthdays and around Christmas, I didn’t see much of my cousins, I didn’t develop a close circle of friends around me, and in particular, I had no male role models outside the family; my Dad was my male role model. Dad was always quietly in the background. He took me to my school rugby games and showed me how to sit in an upturned wheelbarrow to sip his tea, after he sweated over burning a pile of leaves. We did have fun sailing a 14’ dinghy he had built in the backyard, but that was pretty much it.

It wasn’t until I was 13 that that cosy life was turned on its head.

Dad became seriously ill with cancer, and almost died.

Mum first got cancer in an eye, and then progressively suffered liver, then brain cancer. By the time I was 19, Mum had passed away, at home, after a long and courageous battle with cancer. More of my families’ history of cancer here.

As the decades of my life have ticked by, and realising I wasn’t making a good fist of this ‘life’ thing, lurching from one relationship & marriage to another, it wasn’t until I became a Dad for the first time that I realised that I will have to do a lot better than letting life pass me by. If I drift, what does that do for my children? How will I react when the chips are down, and I need to be strong for my kids, and maybe for my partner? Specifically, what does it mean to be resilient, and am I capable of courage?

When I turned 50 a couple of years ago, my mid-life crisis wasn’t to have an affair, or to buy a Harley Davidson. I wanted to test myself, physically and mentally. So I registered to run a half marathon, and a week later to participate in Melbourne’s annual Around The Bay In A Day cycling challenge. With very little – and I mean very little – training, I completed the half marathon within 3 hours, and I rode 210km in one day. The blood blisters on my butt were a bit much, though.

I guess those things don’t really prove if I have either courage or resilience.

Resilience is what you can do every day, when the alternative to drifting or doing nothing, is to do something, to actively challenge and deal with the difficulties one faces.

I’m a Registered Nurse by profession, and for nine years I was a case manager in a youth mental health service, providing community-based care to young people and their families. Some of the young people I worked with showed amazing resilience. No matter what tricks their mind was playing on them, no matter what horrendous side-effects they experienced from the medication, no matter how many friends drifted away, some of these kids displayed absolutely amazing resilience & courage.

If the chips were ever down, for me, could I do the same? It’s been an ongoing puzzle.

Earlier this year, when my Dad was diagnosed with cancer in his neck and at the base of his tongue (and after I’d had my own brush with the big C, in the form of an SCC on my neck), I subscribed to an online cancer support forum, Cancer Connections. Even though I don’t currently have cancer, I’ve found the support and courage shown by some of the forum contributors absolutely amazing.

None more so than Deb who recently posted about facing terminal cancer. This is what she wrote:

Early this year I was found to have a very advanced colorectal cancer, stage 4, with no possible cure. I had ended up in the A & E department of our local hospital after my bowel had perforated and now had gangrene, emergency surgery was done to remove the primary cancer and 23 lymph nodes, 10 of which were cancerous, my liver was found to have extensive secondary’s and also one tumour in the lung.

I mean, what would you do, faced with the news out of the blue that there was no possible cure for what you were experiencing?

Deb commenced chemotherapy, as she was advised that it would help contain the disease, and possibly buy her more time. The chemo was horrendous, and excruciating, and her quality of life actually plummeted. She needed to change tack. She needed the courage to stick up her hand and say: “excuse me, this is shit, I’d like to try something else please”. So, with a new oncologist, she thought through the options.

Deb went on to write:

To start with my new oncologist told me that I was the boss here, she would give me all the information, offer treatment options, answer questions but in no way would I be told what I should do, that I was the only one who knew how I felt and what I wanted to do, based on being given facts, no guesses about how long I might have doing this or that, why? Because we are all different, our cancers are all different in as much as we are at different stages, no two people have the same side effects and we are all different when it comes to what we want from our last months of life.

Read again that last phrase: we are all different when it comes to what we want from our last months of life.

I believe Deb’s sentiments are truly heart felt, but I don’t think – when faced with how we might approach being caught between a rock and a hard place – some people would actually know what they want. That is, only some people actually would have the courage to say: “hang on, I know I don’t have long to live, but could we try something else, please, this isn’t good enough?”

Courage, and its foundation, resilience, comes from the capacity to not be overwhelmed in a situation when we could easily just give up and do nothing. As Deb went on to say:

I have not as some people might think given up the fight, what do I fight is my question to you? I am taking back control here, I want to be able to do the things we all take for granted, I know and accept that my time is running out, but then so is everyone’s, mine just a bit sooner than I would have liked but I have to say there are far worse ways to die than this one and for that I am grateful.

So I have chosen quality over quantity, never think for one moment it has been an easy choice but it is mine and only someone who is in this situation can understand how it really feels.

When I finished reading her post, I was overwhelmed. I wanted to honour her courage, to say something, to acknowledge her bravery: so I posted a comment along those lines, but still felt in awe of what she was doing.

Deb replied to my comment, and this was telling, and makes a point about courage very eloquently:

I don’t consider myself to have much courage, more like I have limited options and have chosen the one that works best for me.

Courage is believing there will always be an option. Courage means making a choice to do something. Courage is a form of action, not acquiescence.

People who are courageous develop resilience from an early age. Resilience develops because a child has an older role model to look up to, and because a child learns it is possible to face challenges, and to deal with them – no matter how big or small the challenge – with courage, grace, and drive.

As I left for work this morning, the kids were on the couch, getting their morning dose of ABC 4 Kids.

With Deb’s reflections in mind, and in the knowledge that our youngest, Gracie, has a chromosomal disorder that will affect her for the rest of her life (even though my partner and I, and both Grace & Max are getting on with life, and trying to tackle Gracie’s difficulties head-on, every day), if I don’t have much courage or resilience, could my kids have some please?

They’re going to need it.

6 Comments

Filed under Cancer, Chromosome 18, Daily reflection, Everday adventures, Family

Tagged as , , , , ,