A little abnormality

We have been waiting for a couple of letters through the door. Leo had blood and urine test results back in June, and the results have been coming in slowly. You will be pleased to hear that Leo’s results are normal. Just one more result to come in for chromosomal tests. A micro-array test whatever that is, the last one on the list. We are of course also waiting for a letter confirming the diagnosis of autism.

In the end the letters never arrived. Frustrated with the silence from the Child Development Centre I put in a call to chase things up. I was told someone would call me back on Thursday morning. I was unsurprised when there was no call, and decided to chase again on Monday. Late on Friday afternoon a paediatrician called me to say that he just needs to speak to one more person and the diagnosis will be confirmed. He is actually qualified to diagnose on his own, but seeing as he didn’t see Leo (he had to be taken out of the room due to level of noisy distress). He therefore would like all members of the team to agree before confirming. He then casually mentioned that we need to meet next week anyway as Leo’s tests have shown a little abnormality on one of the chromosomes. 

My questions were not properly formed, but I kept asking them anyway. The answers were elusive, non-answers really. I don’t know what it means. I have to speak to the geneticist. We will discuss this on Tuesday. No I don’t think it is serious. I don’t know, there are so many tests done and they give so much information I don’t know what it all means. It may explain his learning difficulties.

That one stopped me in my tracks. Learning difficulties? I see autism but not learning difficulties. Why does that fill me with more fear than autism? Because it does. Does it define your life more sharply? I think maybe so. That is where I am at the moment anyway. I have been thinking of his potential as having no limits, in theory anyway. I know my potential or anyone’s is limited by strengths and weaknesses. At the age of 3 it was theoretically possible for me to become a mathematician. By the age of eight, if not younger, my mathematical confusion was apparent and mathematician was off the list of possible futures. Of course a learning difficulty can be anything from dyslexia, to a profoundly challenged brain, struggling to make any sense of the world. The NICE guidelines state that 50% of autistic children also have learning difficulties. It has been suggested that by learning difficulties the doctor actually meant autism. I hope so. That makes him a bit ignorant, but I hope that is the case.

Believe it or not I have barely googled this at all. As I understand it, it goes something like this. There is no gene for autism. The paediatrician who ordered the tests was not the paediatrician who called on Friday, and she said as much: there is no test for autism, this is to rule out other causes of Leo’s problems. Ok, I understood that. Now we have an abnormal result, but it does not seem to be stopping the diagnosis from going ahead, so I do have some residual confusion. It seems that there are chromosomal abnormalities associated with autism, and other conditions such as dyspraxia, but some non-autistic people have these abnormalities too, with no signs of any significant problems. Then there are abnormalities associated with other conditions that may present as autism. Or something else altogether. Hypermobility maybe as there is significant family history in th form of a brother and sister with the condition. As the doctor said: we don’t know. Maybe we still won’t know after the meeting.

Another thing niggles away. The NICE guidelines for diagnosis of autism which set out best practice, state that chromosomal tests should not be ordered as standard. At the time I didn’t know this so I was not worried, assuming it to be standard. It is not. It may simply be that this particular paediatrician likes to order the tests. Maybe an important diagnosis was missed once and she now errs on the side of caution. More likely, she saw something in Leo that alerted her to the need for further testing. His large head has been a concern for me since he was a baby. One Health Visitor laughed at me. Another took it seriously and said yes his head is large, but it has been that way since birth. SInce the womb even. All his measurements were average apart from his head which was not quite off the scale, but getting there. It is a lovely head of course, just large. I also remember that I got a call to say these chromosomal tests needed to be re-done die to a problem with the machines. At the time I was suspicious and kept questioning the doctor – it’s not because something could be wrong, it’s just because of the machines? She reassured me and I reassured myself and the tests were re-done. So on Friday, when the doctor repeated no, I do not think it is serious I am un-reassurable. I have decided that as long as it does not seriously affect his health or life expectancy then I will be absolutely fine. Anything else and I give myself persmission to fall apart to whatever degree I feel is appropriate.  

Not everyone gets these tests, so who knows how many people would come up with some kind of abnormality. However, as an explanation for Leo’s lack of speech and eye contact, his meltdowns and sensory distress I preferred the vagueness of autism. To pin it all down to a faulty chromosome seems to limit him too much, in my mind anyway. That is probably my own problem as much as anything. He will be the same boy whatever the answer, yes yes yes I know. But I may have to make serious adjustments in my outlook. It also brings up the question of the future again, just when I was starting to do a good job of taking it a day at a time. It goes to the heart of being a parent. Your job is to care for them and then to support them as they go out into the world, gently letting go, until they are ready to live life when you are not around. If that is not possible for your child, the whole experience of being a parent changes completely, and I imagine you have to do some serious work to ensure that the childhood years are not tinged with sadness. I will do whatever I can to make sure of that, no matter what the results tell us.

Picture is of Leo sporting his large head.

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