In February 2011 we were due another appointment with the neurologist. Blood tests were going to be back and the results of the genetic analysis were due also. Uisneach's Mam sensed something was up when the neurologist's secretary rang to make sure we were going to be able to attend the appointment. They hadn't done that before.
We arrived as normal. Registered at the desk. Got Uisneach measured and weighed. And waited our turn to see the doctors. There were three or four children before us so the wait was a bit longer than usual. Uisneach was in good form. Playing on a little plastic rocking horse for a while, ripping signs off the walls and trying to eat his books and anything else that came close to his mouth – stripy sleeves are a particular favourite – and which he finds hilarious!
Then we were called in to the office. Uisneach also seemed to get a sense that something was not right because he started acting up as soon as we sat down. We had been trying to get him off his 'dummy' for the previous couple of weeks on the advice of his speech and language therapist at Enable Ireland. Today though we needed to be able to talk to the doctor and hear what was being said without interruption so the 'dummy' was duly stuffed in his mouth.
The registrar working with the neurologist was going to run through the results with us. Effectively we were read the letter that the geneticists had sent to our neurologist. It basically said that on analysis they found that Uisneach had 1p36 micro-deletion syndrome and suggested that this was most likely the cause of his problems to date. It listed off other numbers, indicating where the deletion happened, but they were as meaningless to us as was the fact that he had 'micro-deletion syndrome' in the first place. However, we both knew it was serious – the tone and manner in which it was delivered to us left us in no doubt. But what was it? Was it life threatening? Was it debilitating? Was it intellectual? Was it physical? What about our plans for Uisneach's life?
The neurologist had joined the registrar by now. They didn't have the answers although they were fairly certain it wasn't life threatening and the pointed out that the geneticists had said it was a variable condition – we suppose hinting that it could be mild. They had never heard of the syndrome before and couldn't give us any clues to what it meant for us and Uisneach. So what do we do? We'd have to see a genetic counsellor and we'd have to get tested ourselves. Ok, when can we see them and when can be get the tests done? Tests can be done immediately in the hospital. The genetics lab was contacted to see if a meeting could be arranged. Not for months – possibly 12 months. What? You tell us our son has 1p36 micro-deletion syndrome but we can't get talking to anybody about it for 12 months! There was nothing they could do. They didn't have any information on the condition. The genetics people would have to talk to us!
We sat there for a while trying to take in the enormity of what had been said to us – without actually knowing what it meant. It was a strange and heart-aching feeling – especially with the little guy sitting on our laps, oblivious to it all.
It seemed that we had been looking for a diagnosis for so long and now that we had it we wanted it to go away.
The only light-relief on an otherwise bleak day was being able to laugh at the fact that Uisneach's Dad almost passed out while giving blood for the genetic test. As Uisneach's Mamó (grandmother) took him home it was into the office for the both of us for an unproductive days work. A day spent re-evaluating Uisneach's future and mourning the plans we each had for him.