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A Story About Chromosomes, aka A Jovie Update

Posted on January 18th, 2012 by Tracey

Well, that’s what this blog post would be about if I knew more about chromosomes….

Yesterday afternoon, we headed back to the Children’s Hospital for an appointment with the Dr that diagnosed Jovie with Autism and a Developmental Delay back in September. At the same time of that diagnosis, Jovie had some bloods taken to test for Fragile X and Rett’s Syndrome.

The Fragile X test came back clear a month or so ago – but we were told the next test would take another 2-3 months to come back with any results. Hence my surprise and nervousness last week when they called us to come in to see them.

So the result?

“Chromosome Microarray testing detects a duplication within chromosome 10, band q25.1”.
“… cannot rule out Rett’s Syndrome”

(So it wasn’t a ‘deletion’ as she mentioned to me on the phone).

Not good or bad, nothing that changes our lives for the better or worse right this second.

What does it mean? They don’t know. Which means we don’t know.

Because they don’t know whether it relates to Jovie’s disabilities, Regan and I have had our bloods taken to check chromosome 10. If one or both of us has the same disorder, then it’s likely she’s inherited it from us and it’s got nothing to do with Autism or Developmental Issues. If none of us have the same duplication, then it’s a random thing – it could be a new disorder altogether apparently. There’s just not enough data in the books to say ‘yes, this duplication causes X and Y’ or ‘yes, this is an indication of Autism’. They can’t rule out Rett’s Syndrome because the testing is limited.

Oi. Have I lost you yet?

We’ll wait for the results and we’ll continue with our lives – playgroups, therapy and lots of love. I need to also sort myself out – get back to ‘work’ and dig myself out of hiding… We’ll see our neurologist soon and then the geneticist, and then the paediatrician and whoever else we need.

So this is an update to say ‘hey Jovie also has this awesome thing about her’. And I say awesome because the more I think about DNA, and children and myself and the world, the more I find life amazing and beautiful and unique. Sure, Jovie has her struggles but we’ll be ok. And that’s life, that’s the way it goes for our family.

Everything that has happened in the last few months has changed me, and even though I don’t know where I am headed myself, I know that this life is meant for living with every part of our chromosomes.

Note to say – I don’t mind sharing parts of Jovie’s reports because I know over time (maybe not today or next week), someone will do the same Google search as I am doing now and I want them to feel free to contact me. So contact me!

And my heart skips a beat..

Posted on January 13th, 2012 by Tracey

I don’t often talk about nightmares I’ve had – but maybe I should of posted something earlier so you’d feel how freaked out I am right now (two-fold).

So the doctor who diagnosed Jovie with Autism & Development Delay at the Children’s Hospital has just called. We were expecting an update on her CGH (blood test) that was done to check for Rett’s Syndrome.

For the life of me, I can’t remember exactly what she said – that there is deletions in her DNA or something – but we have to go in for a talk next week and frankly I am going to find it really hard not to stress out until 3:30 on Tuesday.

The only thing I do know is that we love Jovie today, we’ll love her after that appointment. That’s what counts, right?

baby steps: a Jovie update!

Posted on December 29th, 2011 by Tracey

it’s been roughly 4 months since our Autism diagnosis, and i feel like we’re starting to now get into the routine of what life is like when you live with Autism

Jovie’s been doing great – she had a fantastic Christmas Day and there’s less instances of inconsolable crying because I think we’re understanding her a bit more lately. not to say there’s times were it’s tough – she still doesn’t respond to her name or to 98% of instructions or questions etc, we don’t expect a miracle in such a short time

we’ve started on OT twice a week for the next 5 weeks which i think will be a great ‘boost’ for Jovie at the start of 2012 🙂 we can’t afford to continue twice a week, there’s only so much funding will get us in 1 year and we’re still an one-income family right now. i’m trying to learn as much as i can from the OT, so that i can continue encouraging Jovie at home. she loves the swing alot so i’m glad we bought her one for Christmas as i think it’ll be valuable to her communication

Jovie’s starting to really like OT, we’re there early to catch her fed & well rested and she’s comfortable in the therapy rooms now so there’s less anxiousness. she still prefers to be able to go from room to room every few minutes (just part of how she processes things) which calms her down between different things we try. there’s a few fleeting moments where she does seem to be asking for ‘more’ and she definately knows when she wants to ‘stop’.

we’re continuing with the brush therapy, joint compression and sound therapy. today there was an awesome moment where she wanted to stand on the swing and ‘go’ – she had the biggest smile on her face and looked at me like she was saying ‘look at me, mum!’.

and the other day, Jasper was testing out his new crayons that his Grandma Sharon sent him for Christmas, and Jovie came straight over, looked at the orange crayon, picked it up and looked at it! i was so amazed that i didn’t say anything until Jasper batted it out of her hand (‘my crayon!’). it’s really startling to see Jovie do things with purpose, and i am sure that she will do it again (and again and again) soon

it’s really cool to be there for those moments 🙂