Sunday, 15 June 2014

Phelan-McDermid Syndrome

If you are a common reader of the blog, you will have noticed some autism blogs appearing on my blog roll feed. If you have really been paying attention, you will have noticed some of them refer to Phelan-McDermid Syndrome. Our perceptive paediatrician ordered bloods for Nicholas to "rule out" any genetic abnormalities and hey presto, he had one (22q13.3).

As you would imagine, there is a flurry of emotions running through my family at the moment. From anger to relief in knowing what is going on inside Nicholas' head.

So far I have been in touch with Megan Toole who runs the Australian arm of the Phelan-McDermid Syndrome Foundation. As there are only 50 registered families in Australia, the research on this syndrome just isn't there.

From a teacher's point of view, I've been doing lots of research on PMS and ASD. As a family it means that the next few years will be more of an adventure than we thought! Nicholas will need more intervention than he is getting at the moment and he will probably be a high-needs child for quite a number of years.

I am fortunate that I do have a wonderful supportive family around me and some wonderful friends who recognise the need for hugs.

So not much craft for me at the moment, my creative juices will be put into working out strategies for helping my wee man.

Monday, 2 June 2014

Nicholas, Hanen and Study

I've been rather quiet on blogging front, but rather busy on the instagram front. I was remarking to a friend that life gets pretty complicated when you have kids. But when you have one with special needs, it is even more so.

We got through some pictures from childcare of our wee man playing and smiling. He has been smiling a lot more lately and his development has progressed in all the directions except speech!

He is loving his trucks and cars at the moment and will spend ages playing with the various vehicles at childcare and home.

That lovely gap in his front teeth was him pushing his dummy through them to the point where it created a gap! I love the fact that you can see his gorgeous hands in this picture and of course, he is smiling. It is so hard to get a good picture of him, I can only imagine what was happening behind the photographer. Childcare carers dancing about and trying to grab his attention.

He is loving books at the moment and can remain engaged with book for a good half an hour. Port side Pirates comes with a CD that he loves to listen to. Favourite songs are Justine Clarke Dancing Face (oh the irony of this) and the Wiggles Rock a -bye your bear.

But despite the fact that he is progressing in play, we still we have no real distinguishable speech. Next month we start a Hanen "More than words" program at Melvin Speech Pathology in Camberwell. This is a 4 month course which includes parent workshops and speech therapy assessments. We are hoping to develop some skills to try and help Nicholas along. It would be nice if there was a few words for Christmas (can you hear that Santa?).

He is still rather set in his ways with routine and eating is a nightmare. It has to be a secondary task in his eyes, not a primary one. So often there is Play School running in the background for him to focus on. He still requires his favourite coloured bowl and spoon and you have to be so careful when he is eating not to disturb him too much, or else there is a giant tantrum ...

He loves tunnels, when Mummy and Daddy act like a dog and crawl around the floor. We have started to feed the cats together each day and he carefully divides the food between them and then we are encouraging him to give them a little pat at the end. Unfortunately we do need to remove the water dish for this activity as Nicholas loves playing with water.

I have two more subjects to go for my Masters of Eduction (Teacher Librarianship). One practical and one theory. But fitting in the study and work experience visits in-between work and Nicholas' therapy sessions is a bit of a challenge

We are moving house in a few weeks and I am hoping to get a bit of sewing action before I move. I have so many quilting ideas, but alas, no time :(