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.

1 comment:

Dianne said...

As you said, a very emotional time indeed. I have not come across PM syndrome before and will be on the look out for any reference to it at work.