What helps. What doesn’t.

Aside

My son is autistic. I embrace thatand I also want to help him live more comfortably in the world. There is not any one answer to how I will do that, but at least I know what my intentions are. I also know that I need to presume competence, which is not the same thing as having high expectations. It took me some time to understand what it is and why it matters. I still have some trouble explaining it, but here goes….It is knowing that the fact that Leo is autistic makes it more difficult to assess what he understands. He may well understand things that he appears not to – but for a variety of reasons he is not currently able to show this in ways that we can understand. In a way, that is what autism is all about. Expressing yourself is hard. It does not mean that you have nothing to express.

It was not an easy journey to get to that point. I thought autism sounded like something you would fight and overcome, rather than embrace. Acceptance is the only choice for me.  If Leo were to consistently receive the message that I was trying to change him, that he is not okay the way he is…that could resonate throughout his life. It is also much more pleasant for both us on a day-to-day basis. Acceptance is not a call to inaction. It is simply a starting point for working with Leo so he can find his way in the world.

But he also has another diagnosis: 16p11.2 microdeletion. The numbers refer to the place on chromosome 16 where genetic material is missing. This can be passed on from a parent or it can happen randomly. The diagnosis is in addition to autism, and this can be confusing, as when I try to explain it, it can sound as if it is part of it the autism diagnosis, or the cause of it.

Rather than a list of symptoms you get a list of risks. Most of them will not be experienced by people with the microdeletion, but compared to the average person they will have a much higher chance of having one or more of the things on the list. It gives you some statistics, but as the abnormality was only discovered in 2007 there is not a lot of data to go on. I try not to take too much notice of the numbers in any case; they don’t tell you anything about your child. The list includes but is not limited to: speech delay, fine and gross motor delays, obesity, autism, low IQ, hyperactivity, aggression, seizures, schizophrenia. Some people are entirely unaffected. Another way to explain it would be to say that being male does not cause autism, but it does give you a greater chance of being autistic, or indeed having special needs (go to any special needs school and observe the boy:girl ratio). This is the same principle. Association rather than causation.

I find Leo’s microdeletion harder to talk/think/write about than him being autistic. There are no positive sides to it. After embracing autism and presuming competence it all became harder again.  The best I could do was a vague link between undergoing adversity and growing stronger. Sitting with, tolerating and investigating those uncomfortable feelings has helped a little.

They tested us, Leo’s parents (if our results were clear then no need to test our other children). We waited months and months for our results. I have a suspicion that they were sitting in someone’s in-tray for some time, as a chasing phone call prompted a return call from the doctor. Our results were clear. This means none of the other children need testing – they are no more likely to have the microdeletion than any other person. This is clearly a good thing, but I was struck how I felt no relief when the doctor said the words, or even later on. I even felt a little sadness creeping in. The bit of me that wanted to say to Leo you have this unusual thing but it’s okay because I have it too was making itself known. I hadn’t realised it even existed until the results were in. I knew I was not concerned about blame or guilt, but I was not fully aware of the part of me that was holding onto a kind of hope that I could make it all okay for him by the two of us being in it together.

The period of waiting revealed an interesting phenomenon. I started to find signs of 16p11.2 in my other children and in myself: Caitlin has seizures, James had speech delay. Caitlin had great difficulty learning to ride a bike – was that due to motor delays? Miles did not roll over until he was 8 months old. I am excessively clumsy. Is there a pattern of problems with motor skills?

There are also some facial features associated with the syndrome and that list really drew my attention during the waiting period. They are so subtle, and within the range of features that you might find in anyone. They don’t scream out at you, they are almost nothing, and if you keep looking you can convince yourself you have found them. Large head, wide-spaced eyes, long philtrum (the space that connects the nose and the upper lip – think John Major). Low set ears, tiny folds in the corners of the eyes. Leo has these features (apart from the low-set ears). I noticed the long philtrum when he was born and I thought it strange as it didn’t seem to be in either of our families. Even stranger, it seems to have shortened over time and is less noticeable now. Caitlin has beautiful almond-shaped eyes. Do they have that shape because of tiny folds in the corners? I have a large head. Does James have low-set ears? I even started to look at strangers, at people on television. The features were everywhere, and search continued even after it lost all meaning.

The results put an end to the search for good, but it did remind me of the fact that you very often see what you expect to see. And that means you stop actually seeing. You start telling yourself a story about what you think you see, and you think you are understanding it. And then you’re off ‘making sense’ of what you have seen and putting the pieces together and yes it all fits…except it doesn’t and it is nothing more than a story.

Caitlin, uses a wheelchair, and most of the time she wheels herself, but sometimes her partner will push the wheelchair while she holds their baby. She has had people come up to her, eager to share what they think is an amusing mistake. I thought you were holding a doll they exclaim, I didn’t realise it was a real baby! What they don’t realise, not at the time anyway, is they have just shared  their assumptions about a girl in a wheelchair: she won’t have a relationship, or a family of her own. It is far more likely that at the age of 20 she would still be playing with dolls, so that is what they see.

I wonder how many assumptions are made about Leo and children like him. Some assumptions are made by people who do not know about his diagnosis: the lady who stared at him during meltdown in the doctor’s surgery did not say anything, but it was pretty clear some assumptions were being made. But there are also assumptions made by people who do know his diagnosis; his notes continue to say that Leo’s play is limited and repetitive when in my opinion it is not. He is developmentally delayed and this must affect the assumptions of the professionals involved. When the pre-school manager told me he can recognise the numbers 1-3, I could tell she expected me to be as pleased and surprised as she was. The thing is, he knows numbers up to 20. And the alphabet, the names and sounds of the letters. And a few words too. I tell people this, but it seems they do not hear, as it does not fit the picture they have built up of a child who is delayed in all areas.

I wonder how many assumptions I make without realising. Of course, that is the problem with assumptions – you do not realise you are making them! I sometimes find I have assumed that he has not understood something that in fact he has.  I wonder every day about how best to counter this tendency. Knowing it is there is the first step. Slowing down is the second. The mind is so quick to take over and run off with itself. It is much harder to watch and wait without judging. The third is replacing anxiety (mainly about the future) with curiosity about what will happen in this moment. All of this creates the conditions in which it becomes easy to presume competence.

A possible fourth way (I am hesitating about including it) is to stop comparing him to other children. I hesitate because the way I do this at the moment is to largely ignore other children. This is not sustainable, not least because I have my own example of what is (at least it appears to be at this point) typical development in my own 15 month old. It is worth pointing out that in my distress at how far behind he is ( at the age of 41 months he is currently assessed as 16-26 months in all areas) I can end up making assumptions about other children. Another boy called Leo who we met when we used to go to mother and toddler groups caused me to be envious of the ease with which I presumed he would breeze through life. We next met him at an autism group, newly diagnosed.

Still, for the most part, I know other children have the potential to upset me, and I live in a bubble, observing other children only briefly, out of the corner of my eye. If I can find a way to simply observe without judging, I might even make useful discoveries. Other children are much more relaxed than Leo, whose muscles are often tensed. I get used to the way he is, but when I see him next to other kids, it is as if he is braced against life. It is hard to learn when you are that tense. This is useful information and could have gone unnoticed. Nevertheless, it is often hard for me to look, simply because my mind will start running away with comparisons, worry kicks in, and it stops being helpful.

It is a process. You become distracted with other things, and assumptions, anxiety and judgment and grow everywhere like weeds.  You simply need to clear them away and start again. Like weeding, and most chores, it is not something you do once and then it is done. The weeds come back, but the more you attend to it, the less of a chore it becomes.

Speechless

I have been gearing up to write about Learning DIfficulties, but I can’t quite bring myself to start. I recently learnt that in addition to autism, my son has a chromosomal abnormality (microdeletion 16p11.2) which is strongly associated with Learning Difficulties. I know very very little about this huge topic. Is a learning difficulty (you see how I don’t even know whether or not to use capitals) simply anything at all that impacts on learning, in which case we all have them, so why worry? And stop making such a fuss and get on with it (is the possible implication). Or does it have to involve a low IQ, bearing in mind that IQ tests are not the only way to measure intelligence and that there are different kinds of intelligence. Is autism a learning difficulty? For most people it certainly impacts on learning. And yet once obstacles to learning are removed it is often possible for autistic people to learn exceptionally well. I think it is best to leave it there for now as I feel I am already getting into trouble.

There is learning and there is also teaching, but the two do not always go together. My son is three years old, and has not yet learned to speak. Does this mean we have to teach him? How do you teach someone to speak? Most parents do not have to worry about that at all. You read stories, sing songs, chat away to them and eventually they start speaking back to you. Hooray, job done, you are a good parent! To be honest, it seems to me that even if you don’t do those things, the speech would probably come along more or less when it should. Leo is non-verbal (actually I think technically he is classed as pre-verbal which sounds a bit better but is not), and I have received and put into practice a huge amount of advice from professionals, fellow autism parents, books and the internet. I can turn any activity into ‘ready steady….wait for him to look or make a sound…..go’. Likewise turn-taking: ‘Mummy’s turn…Leo’s turn’. Turn-taking is important because it helps with attention and without attention you don’t learn. Turn-taking is also the basis of conversation. I can see the logic in all the activities I have been advised to do, it all makes complete sense. I sing songs whenever possible (singing is sometimes easier than speaking for autistic people) ,sometimes I sing a commentary on what we are doing. He tends to look at me as if I am a bit bonkers when I do that. I listen for any noise that could be a word and repeat it back to him as if it is a word (bearing in mind there are barely any of these). I put things he wants out of the way so he has to ‘ask’ for them. I do things wrong deliberately to provoke a reaction, I pretend to forget things: ‘where are the spoons, I can’t remember’. I say what we are doing: ‘up the stairs, we are going up, up, up’. I slowed down my speech and used simple two word sentences, I repeated sounds in an exaggerated way: ‘p,p,p,pop the bubble’. Actually I have stopped doing these last two. The more I read the writings of non-verbal autistic adults the more I want to talk to him ‘normally’ and feel it is important to do so. To do otherwise always felt forced to me and I feel quite liberated in abandoning some of the techniques.

Leo has certainly done a lot of learning, in the last few months. Whether or not this is down to any of the teaching he has received is anyone’s guess. He can now imitate physical gestures very well (imitation is essential for learning speech); he finds it easier to pay attention than he did; he can respond to questions by pointing to or signing the answer. The impact on his speech has been almost zero. Even making a deliberate sound is still so hard for him. He can roar on request but that is it. He was just as unable to blow out the candles on his cake aged three as he was aged two. The books recommend using straws to blow through, or kazoos, or party blowers. The problem is that he just can’t do it. Like I can’t do the splits. Someone could demonstrate how to do the splits, and I would be able to see what they are doing. Just put your legs like this, it’s easy – see! I still would not be able to do the splits. I choose this as an example because aged about eleven this was my dearest wish, and I was highly motivated, but my body simply would not co-operate. I feel it must be a bit like this for Leo when people try to demonstrate the mechanics of speech to him. I also worry that constant repetition of things he cannot do is teaching him his failure to learn the skill, that the failure is somehow getting grooved into his brain. And that with each attempt the failure becomes part of him. Even if that is wrong, I feel we need something different, a new path.

I used to ‘hear’ him say a word or two sometimes. Yogurt, dog, dad, car, go, wow, down, out, book, cat, again… I think there are more. It is not just me. Several professionals have also told me excitedly they have heard a word or a word attempt. I don’t hear them any more, because it is too hard when he does not say them again. To make speech the be all and end all could easily end in heartbreak for both of us. At one point I had the attitude of; ‘he will speak and that is that’ but I have realised it is something I do not have control over. He may well speak at some point. He may not. I don’t know. What is certain is that he needs a way to communicate. A better way then the 20 or so signs he currently has. Better even than the pictures that we are compiling with the help of the Speech Therapist. He needs to express himself using words. This may be a voice output device, it may be typing. He will need to learn to read. That is an exciting thought. He already loves letters and knows the names and sounds, upper and lower case (without anyone teaching him as such). This is a very different path to speech but it could be just as wonderful. It suddenly seemed important to say this to him: ‘your words are stuck in your head Leo, but I know you can understand me.’ I got very clear sustained eye contact when I said this to him. He looked at me for a long time and then carefully touched his mouth. I will help him find a way to unstick his words, but we will not limit ourselves to speech alone. I have a feeling once his words are unstuck he will have a thing or two to teach us.

Support and Syndromes

I hate uncertainty. I can deal with almost anything, or at least I think I can, but not knowing is unbearable. We now have a lot of information but very few answers, at least to the questions I am asking.

Rewind to Tuesday lunchtime. The schedule is simple: get taxi to support group, come home, meet daddy and then go to the appointment for Leo’s abnormal results.

We arrive at the support group. It is for parents of autistic kids, but (hooray!) you can take the kids along too, and I have been looking forward to it for months. The group leaders greet me at the door, one of them guesses who I am, and starts chatting to me about Special School and hands me details of an open morning. Her son has Apserger’s and attends a mainstream school with an ASD unit. I start to feel sick and lose the thread of what she is saying. I take a biscuit I can’t eat and drink a cup of tea I don’t want. I can see there is a lot of support here, a lot of information: 5 or 6 big folders full of info on services, education, health…chew toys and fidgets for sale. Autism cards and t-shirts. Special Needs catalogues.

There are only 3 or 4 young autistic kids there, most of the parents have school age children and are attending on their own or with a younger sibling in tow. There is one boy, nearly 4, who is clearly autistic, spinning and screaming, and then suddenly bursting into laughter. He will be going to the Special School in September and I chat to his mum about applying for a statement. Leo is trying to escape and I have to keep looking to check he is still in the room. At one point he lies down and licks the floor (something he has never done before). She understands, and that is nice. I will enjoy this another time. Okay, maybe enjoy is a bit strong. Appreciate. I will appreciate it.

I clock-watch till 2.30 and then we’re out of there. I have overloaded to the point where my worry circuits are no longer working, and a relative calm descends. I know the doctor only works at the Child Development Centre on Thursdays and he is coming in on a Tuesday just to meet with us. Surely that is the sign this is serious. His reluctance to disclose details seems like him sticking to his training: do not give bad news over the phone. I tell myself I can cope, I just want to know. I think I believe it.

In the waiting room a lady walks over and calls Leo’s name. Years of appointments with James and Caitlin have given me the ability to tell immediately if someone is a doctor, and this woman is not. She is not a medical professional at all I don’t think. Suddenly I feel worried again, the kind of worry where things go in slow motion. She introduces herself as Julia, the family support co-ordinator for the Centre and asks if it okay for her to sit in on the meeting. Family Support Co-ordinator!!  She is not just a family support worker, she is the top one. I need support just to get to the meeting room, never mind afterwards.

Shamefully, I still found time to be irritated at her. Leo kept running the wrong way and she kept calling him and saying clever boy. My real irritation however, was that this is her job, and this is our lives. I imagine her telling her friends about her stressful job, that she just has to leave her work at the door or it would drive her madHow she really needs that glass of wine when she gets in. It annoys me that she is wearing high heeled boots and a too tight skirt that is also way too young for her. There is actually nothing nasty about this woman, she is obviously a very caring person, but in the moment I can’t help myself, and I detect pity in her glances, her head held slightly to one side, her voice soft and thoughtful.

The doctor decides to launch into a long explanation of the autism diagnosis. Yes, yes we agree with the autism diagnosis. I have been pestering for weeks, so he must know we agree. I nod at everything he has to say. I can see he has a piece of paper with a list of 4 things to discuss and I am straining to see what they are. The baby starts to cry and now I have to strain to hear.

Finally he delivers the verdict. Chromosome 16 (I had heard of 18 and 22 linked to autism but not 16). Microdeletion 16p11.2 (group 1). A little bit of the genetic material is missing. It is rare. It is called a syndrome but in his opinion it is not really a syndrome, as it is not very syndromic (a new word to me). He hands me a leaflet and keeps saying learning difficulties. The baby takes the crying up another notch. I tell him I don’t see learning difficulties in Leo. He says that is good, not everyone is affected in that way, it varies a lot. I stand up and jiggle the baby around, asking questions. Is this the cause of Leo’s autism? No, no. Having this raises the risk of autism, but most people with 16p11.2 do not have autism. And only 1 in 100 people with autism have this abnormality. My mind starts to struggle with the numbers and concepts. What else does it mean? more risks, more numbers, nothing clear. Half are obese due to metabolic differences and blood sugar imbalance, some have seizures, most but not all have learning difficulties, some have minor facial features such as a large head and folds on eyelids, clumsiness, poor gross and fine motor skills, heart defects, some other things. None of them are very nice.

He tells us we must be tested, and I ask why. He says to see if we have passed it on or if it has arisen spontaneously (it is usually spontaneous). I ask how that will help Leo. He doesn’t know, but it may give the geneticist more information, and we can discuss everything with her once the results are in. They are due in just before or just after Christmas. I had been concentrating on trying to understand, but suddenly I feel a bit sorry for myself again.

I wonder about the relevance of inheritance or otherwise. As I understand it, and please understand this may not be the whole story, if one of his ‘normal’ parents has the same deletion of genetic material, the consequences are possibly less serious for Leo. So in a way, I hope one of us does have it. But then there would be a 50% chance that one of the other kids have the same deletion and could pass it on to their kids, so then I start hoping it is what they call ‘de novo’, a new abnormality. I wonder what will be gained by this extra information, but we are on a treadmill now and it is too hard to get off and say we want to remain ignorant.

Before we leave they measure our heads. Leo would not agree to this but we were more compliant. The doctor wrote down the numbers, nodding and gave us a little smile as if to say our heads are of normal size. I wondered what he would say if they weren’t! It seems more than a little rude and I imagine a note on the file: maternal macrocephaly. I guess this is the same principle as before: If one of us has a large head and no deletion of genetic material then Leo’s large head is probably just inherited from us and not related to his ‘syndrome that is not a syndrome’.

We leave exhausted, and I feel relieved, almost joyful that Leo’s life is not at risk. Everyone we know reassures us that he does not have learning difficulties, he has communication problems, yes, but that is not the same thing. In the daytime all this makes wonderful sense, but at night it closes in on me and I wake every 2 hours, then every hour. I know I can’t deal with the future now, but it rushes in on me when no-one else is around.

My belief in my son’s unlimited potential is slightly dented, and the fear that Leo will never be independent is more present. Autism did not cause me to grieve, but this could. If necessary I will grieve and then get on with it. The adjustment would be huge, but I can’t start it now. In the early hours of the morning I get up and join a support group for rare chromosomal disorders. There are lots of autism parents, but I don’t know any microdeletion 16p11.2 (group 1) parents. It feels lonely.

Fast forward a couple of days, and looking for more answers I call the Early Years Team: Can they do a specific learning difficulties assessment? She calls me back while I am in the supermarket and the conversation takes place as I push the double buggy up and down the aisles, picking things off the shelves almost at random.  I knew the answer anyway: no separate assessment necessary, as they are constantly monitoring him for whatever problems and progress he shows. Before hanging up she said: Amy, we know he does have learning difficulties; when they are this age we call it global delay, but when they are school age we call it learning difficulties. I tell her that Preschool have told me they don’t see learning difficulties, that he is very bright. She gently says that sometimes they are too kind, too eager to say what the parent wants to hear and that this gives false hope. I reach the till and say goodbye.

The information held by Early Years has come from our answers about what Leo can and can’t do, so I can’t really argue with her conclusions. However, when I get home and unload my strange purchases ( why do I have 3 different types of fruit loaf and some highlighter pens?) I watch Leo playing alphabet games on the kindle, identifying letters and even forming a few 3 letter words, I realise we were not asked about academic ability. It is not relevant at this age, knowledge of numbers and letters is neither here nor there. It was all social, language and motor skills. And not surprisingly for an autistic child he scored way below his real age.

My heart lifts as I remember stories of experts underestimating autistic kids, and then sinks again as I imagine a procession of kind people, teachers, health professionals, hearing of Leo’s chromosomal abnormality syndrome and silently jumping to conclusions. I also remind myself that even with learning difficulties, with low IQ, with the kind of delays where you never catch up, his life and experiences would still be exactly as valid as anyone else’s, and my job is to make sure that we all remember that.