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.

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2 thoughts on “Support and Syndromes

  1. Truly touching – and the feeling of being tugged in all directions comes through. Overwhelming. Thank you for sharing.

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