Reflecting on Rare Diseases 2016 #22q13

Another year has buzzed by and we are yet again reflecting on rare diseases and how we care for people with these disabilities in our community.

On this rare diseases day, we don't need pity or a campaign to raise money, we just want to be acknowledged and for our governments to acknowledge this changing healthcare landscape by properly funding science and research into rare diseases.

Up to 400,000 children in Australia have a rare disease (condition that affects less than 200,000).

My son Nicholas is one of 70 children in Australia with his condition and 1 of 1000 worldwide.

Nicholas has started school this year, at a Special Development School and he is blossoming. His learning needs are severe as he is still non-verbal and has difficulty communicating. But we are kicking some goals as he learns how to communicate his needs to us.

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).

[source]

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.