It’s been nearly three years since I first spoke to the health visitor about my concerns regarding my son Harry. He had just turned 2 at the time. I first noticed that my son seemed different when he was just 4 months old, but I put my suspicions down to paranoia. As he got older it became clear that I wasn’t just being paranoid and that he wasn’t like other children his age. He would lash out at the smallest of things and he wasn’t meeting the same milestones.
The health visitor agreed that he was delayed compared to his peers especially in terms of his speech and language and social communication skills. He also seemed to have some anxiety and some sensory issues so she referred us to the pediatrician who we waited six months to see.
When we finally had our first appointment with the pediatrician, she agreed that his speech and language were severely delayed but she didn’t agree with my concerns that he may be on the autism spectrum, mainly because he could point and he gave good eye contact. She also said he didn’t appear to have gross or fine motor delay.
Fast forward to the next appointment (another six months later) and she saw exactly what I was talking about. Harry did not play with any of the toys she had put out for him, instead he lined them all up. He would look at her from out of the the corners of his eyes, but not directly. His speech and understanding were still significantly behind and it was clear that he had global developmental delay. She decided to run a genetic blood test to see if there was anything underlying causing his delays but she also wanted to put him on the waiting list for an autism assessment. Finally, she was seeing what I had been seeing for the past two years. I was finally being listened to and taken seriously. It was like a punch in the stomach that someone agreed with me, and a huge relief all at the same time.
In February this year, 2 years after my son was first seen by the heath visitor and 18 months after he was first seen by the pediatrician, we finally got some answers. The blood test showed that he has a tiny piece of genetics missing. He has 4 genes missing from his 15th chromosome to be exact and was diagnosed with 15q11.2 micro deletion. Although this diagnosis explains a lot in terms of his symptoms, his pediatrician was still not ruling out autistic spectrum disorder and so he remains on the waiting list for an ADOS assessment.
Yesterday, after 18 months of being on that waiting list, and after nearly 3 years since he was first seen, I finally got the call that I’d been waiting so long for and because I was in bed asleep poorly I nearly ignored it. However, since it was right next to me and it was a private number calling (which in our case usually means its one of my childrens medical professionals) I thought I’d better answer it and I’m glad I did.
It was the clinica psychologist calling to say that Harry was now at the top of the list and that they’d had a cancellation so could I go in on Monday to which of course I said yes. So Monday is the day we start the assessment to find out whether our son is on the autistism spectrum.
I supose since my son was diagnosed with 15q11.2 deletion the answer to that question isn’t as important as it once was because my biggest worry before then was that we would never know what was causing his delays. That it would go unexplained and that he wouldn’t get the help he needs. At my lowest points during the early days of this long long journey, I even questioned whether my sons delays were my fault. Whether I hadn’t spent enough one on one quality time with him and I wondered if no underlying reason was found , would other people think that it was my fault too? When we got the results of his genetic blood test and I read everything I could on 15q11.2 deletion, it was like a light bulb moment. Everything finally made sense. Harry may not have ticked all the boxes for autistic spectrum disorder, but he did tick all the boxes for this deletion.
Harry already gets additional help at school. He has a special educational needs coordinator and he has an education and health care plan (ehcp) in place so I don’t think that having the autism assessment is going to give us any more help than he already has.
With that in mind would an autism ‘label’ really make any difference to our lives? The truth is probably not but I figure we’ve come this far, we may as well go the whole hog.
And so in six to eight weeks I will finally be able to put to bed the question I’ve been asking myself for years.
“Does my son have autism or not?”
Three years ago I used to cry myself to sleep wondering what the future holds. Today I know that an autism diagnosis no longer matters. My son is and always will be, just Harry. My quirky, beautiful, funny, loving little boy who has taught me so much more over the past three years than I will ever be able to teach him. He’s taught me the most valuable life lessons and you can’t put a label on that.
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