Diagnosing autism - services need to be increased, not reduced.

If you are a regular reader of my blog you probably know that my two boys both have a diagnosis of high functioning autism, sometimes called Asperger Syndrome. 

My boys are very different, both have different needs but thanks to some great support they are on their way to fulfilling their dreams.

It was not always like this.  Our journey to diagnosis for the boys was long, convoluted and costly.  In many ways it was so much easier with Daisy, her disability was so extreme and obvious the support clicked into place immediately.

It’s different with the so called “invisible disabilities” however.  The lifelong neurodevelopmental disorders that fall within the autism spectrum are difficult to spot and children can fall between the cracks in our broken system without the support they need.

We don't need Cancer to remind us to seize the day

There has been a big gap since my last post.   I have had a post in draft for a while, one about the arrival of our lovely little cocker spaniel puppy Pluto and how he has turned our world upside down and had such a huge impact on our family.

But along came something that turned our world upside down even more, and has had a bigger impact on our family than we could ever imagine.

Andy, my brilliant, opinionated, insightful, clever, rock of a husband has cancer.

And the world as we know it will never be the same again.

Too much information?

An article appeared in the New York Times this week announcing a breakthrough in antenatal testing which is non-invasive so carries no miscarriage risk but could potentially identify up to 3,000 genetic diseases caused by gene mutations

http://www.nytimes.com/2012/06/07/health/tests-of-parents-are-used-to-map-genes-of-a-fetus.html?_r=1

At the moment antenatal screening is limited to a handful of know disorders such as Downs, or where there is an inherited risk such as Cystic Fibrosis.  The definitive test involves an invasive procedure, either amniocentesis or CVS (chorionic villus sampling) to obtain genetic material in order to establish the baby's karyotype and whether they are carrying a known genetic disease.

Genome mapping and it's applications was in its infancy when Daisy was born but within a year the mutation for Costello Syndrome had been identified and there is now a theoretical chance that babies could be diagnosed antenatally with the syndrome.  This new test also means that screening can be done for a huge range of known genetic syndromes without any risk of miscarriage. Pandora's Box has been opened....

When I was pregnant with Daisy, we were given a 1:4 chance of having a child with Downs.  We had breezed into the scan, with a family holiday booked for the end of the week and feeling like we were old hands at this pregnancy game, that's when the first of the thousands of Daisy-shaped curve balls hit us.  The consultant seemed to spend ages looking at the monitor and then made an excuse to leave the room, when he came back it was with a Nurse - we now know she is the nurse specialist for Fetal Medicine and that's when we were told that our chances of having a baby with Downs were 1 in 4.  And all that was mentioned was Downs, or at least that's what we heard, we went home and I googled and read and tried to remind myself that 1 in 4 meant that the odds were still in our favour (just!).

A different operating system

The quote above appeared on facebook a few weeks ago and for me it was a eureka moment, it encapsulated what life is like for a person with Autistic Spectrum Disorder, a person like my son, Theo.  In a moment I realised  what I had been struggling to articulate, that Theo is a Mac and the rest of us are PCs and we are trying to operate a Mac like you operate a PC....and if you are not familiar with these two operating systems it's like trying to manually change gear in an automatic car or speak French in Germany...you get my drift.  In other words the normal (what we perceive to be normal) rules do not apply.  When you have a child with Aspergers, many of the normal rules of parenting don't apply and you have to revisit how to parent in a way that can sometimes completely go against your instinct......