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two of a kind

Posted on March 27th, 2012 by Tracey

a few minutes ago, the phone rang and it was the genetics department of the children hospital. hooray! we’ve been expecting a call about the DNA testing Regan and I did in January – so getting calls is always a great thing, whether we expect ‘bad’ or ‘good’ news

results? Regan does not show the same duplication of chromosome 10q25 that Jovie has. I do.

what does this mean? well it means whatever this duplication is, it’s not why Jovie has developmental delays or little quirks (like hand wringing, teeth grinding, falling over etc) because I don’t have the same issues.

it means that we can file this one away as something unusual, but not suspicious. it means that i’ve found one more thing in common with my baby girl, and that is pretty awesome.

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Joey Doesn’t Talk Yet aka Siblings Understanding Autism

Posted on February 15th, 2012 by Tracey

Overheard in the bath tub this morning, the sounds of a 4 year old boy trying to teach his 2 year old sister how to say his name.

‘Say JAS-PAH, Joey’
‘…’
‘Like this, JAS-PAH’
‘…’
‘Joey, say JAS-PAH. Say JAS-PAH!’
‘…’

There are times in your life where you feel proud, and there are times where you feel profoundly sad. This was both for me today at bath time.

Jasper is beginning to understand more and more than Jovie is different to other kids. He’s first to say ‘Joey doesn’t talk yet’ when I talk to Jovie directly. When we drop him at daycare, Jovie likes to roam around the room but he brings her back to me saying she needs to go to ‘baby school’ (e.g. either therapy or her supported playgroups).

There’s glimpses throughout the day where he tries to ‘speak Jovie’ – our ‘home therapy’ includes bubble blowing and he watches me work on Jovie’s joint attention and tries to copy. And like in the bath tub this morning, he’s trying to encourage her to speak.

We tell him that Jovie needs a little more help than other people and that we need to teach her things, that you can always talk to Jovie because she can hear you (though she doesn’t understand). But ultimately we’ve decided he’s still a little young to understand the whole scope of things.

There will always be questions and maybe I won’t have all the answers, but to a 4 year old boy who just wants to play with his sister I don’t think any answer really makes sense.

Parents of kids with Autism – how have you explained Autism to your other kids?

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!