The first week of the summer holidays began with us all spitting into a tube. We've been put forward for the Sanger Institute DDD study (Deciphering Developmental Disorders) and they needed and DNA sample from all of us. Monkey-boy thought it was hilarious. Most of the time he's not allowed to spit, so given permission he was in his element. First they'll do a detailed micro-array analysis (laying all the genes out looking for missing bits), then they'll sequence his genome.
It will be at least a year before we know anything but frankly I'm not holding my breath. Sometimes it feels like he's had more tests than the atom bomb, with EEGs, brain scans, spinal taps. I've almost given up on medical procedures to give me an answer. I would, however, like to know if he is autistic and that is my next step.
There are some indicators; he struggles with change and needs structure and routine. Right now we are at the mid-point of the summer holidays and his behaviour is going downhill fast. Yesterday he stripped naked in the park twice and ran away from me across a road. This morning I found myself silently chasing him through a supermarket (no point in me shouting, it won't stop him and just draws attention). He's kicking off about food, bathtime, just about everything.
He's currently obsessing about water. He want to go the beach every day and get the water slide out, although he doesn't actually play with it. He just turns the tap on and off.
Then there's the language, he's very delayed. At the age of 6 he can now talk in short sentences which has been wonderful but it's very basic and needs-based. "I want apple juice," has reduced his anger and frustration by 80%, but we still get the conversations which go on all day when he can't accept that I've said no to something. "I want go beach." No not today, it's too cold. One minute later. "I want go beach." No not today, it's what? "Cold." He parrots the words back to me but he doesn't understand.
So what about the social skills? Unlike many autistic children he is very loving and giving. He hugs and kisses me all the time, but he also does it to everyone he meets, sometimes shocking strangers. Today at the deli counter he started stroking an elderly gentleman's bottom. I had to explain that he was just trying to be friendly. Luckily the man found it amusing rather than horrifying.
So while I wait for an appointment with the autism specialist we spend our summer holidays trying to help him cope with his lost routine. I've made social stories, visual timetables, and sticker charts are next. I spend hours with the laminator. It helps a bit but we really need school to start again.
Am I ok with our lack of diagnosis? Well not really, I want to know why he is the way he is. But then again I'm not expecting to ever find out. After 5 years and numerous tests we seem to have reached the limit of human knowledge on his condition. I guess I just have to wait and see if the Sanger Institute can shed any light. Maybe they'll find a new syndrome but it won't change life for him in any real way, it would just give us a label - and that is of limited use.
In the mean-time we help him, we love him, we enjoy him. Some days it's hard though.
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