Diagnosis: The Journey Ahead Part One

*The contents in this post is based on personal experience.


To understand where I need to go, I must first look at where I have been. Let’s start from the beginning….

The day my son was born

My son was born weighing 9lb 1 ounce. He was even an early walker at 9 months. The only concern at the time was his inability to sleep.

Toddler Stage

My son had a dislike of loud noises and being around lots of people. From the age of one and onwards, he obsessively lined up every toy in the room and repeated this over and over. At this age, he appeared to be clumsy and anxiously rocked from side to side. At the time, I could not fathom what was happening.

From two years old, he was making babbling noises and unable to respond to his name. As a protective mother who loved her son dearly, I decided to enrol him into pre-school two mornings a week. At the time I thought that this would help him socialize with children his age and become confident that maybe he would want to talk.


This period was the most distressing time for me as this was when the behavioural issues were predominant. My son pulled his hair and hit his head repeatedly out of frustration. I was so tearful as I could not understand why he was doing this to himself. I feared that he would seriously hurt himself. We were able to get an Educational Psychologist to assess his behaviour. The outcome was that the behavioural issues were due to his speech and language delay and inability to communicate. The Educational Psychologist would review him later at nursery.


I informed the nursery of my concerns for my son. From the age of three, he was referred to a Speech Therapist who confirmed that he had a delay in receptive and expressive language.

The teacher at school recorded his behaviour, from hitting and screaming out to throwing his shoes and socks across the room. I remember being told one time where my son had a meltdown because the other children placed the thick colouring pencils into the same pot as the thin pencils.

He became very OCD and on his own accord compulsively tidied up the classroom to make the environment predictable for him. This was his way of coping with the demands of communicating and socializing. Skills that he lacked. At this age, he could not catch a ball or tiptoe.

The nursery referred my son to a specialist paediatric service for children with developmental disorders and delays.

The Assessments

After an initial assessment and noting the speech, language, and developmental delay, he was referred for a hearing assessment (which he passed). A few months after, it was time for the second assessment. The paediatrician observed him in a playroom with other children. I distinctly remember that one of the children loved to be destructive and throw the toys around in the play area; while my son had an impulse to keep things nice and tidy. Everything had to be in its place. My son then completed an assessment with the paediatrician. At this stage, she suspected autism, but no diagnosis was made. We would have to come back at another time for another assessment.

A month after the assessment, I was at my wit’s end, so I frantically rang the paediatrician and practically begged her to observe my son in his nursery environment. I cried out: “it’s not just autism, I have a gut feeling that there’s something else. I know, I’m his mum!” Surprisingly the paediatrician checked her diary and arranged with the nursery a visiting appointment. After her observation, she rang me to report that she had been baffled by my son’s behaviour. She still suspected autism but referred him for a blood test to check for any chromosome disorders. My son’s blood samples were sent to a London hospital for analysis.

The Blood Test Results

After a couple of months, I was still waiting for my son’s test results. In a moment of despair, I rang the Paediatric service to be informed that she was on holiday. It was December, my auntie had just passed away. I was feeling empty and confused but had to smile my way through Christmas.

January approached, and I received a phone call. At last, the paediatrician was going to give me the news. I was not prepared to hear what I had to hear, especially over the phone! The paediatrician apologised for the delay in response and that she would arrange an appointment for us to sit down to talk. She then followed this by saying not to worry. I then thought ok, maybe he is autistic and that’s it?

Oh no! Here it goes:

The blood test results showed an abnormality: “Your son has a microduplication of chromosome 16p11.2”, which is a rare disorder. At this point, I had dropped to my knees. It felt as though the room was spinning and she was speaking an alien language to me. This was such a surreal experience and felt as if I was dreaming. My son aged four at the time was diagnosed with a rare chromosome disorder!


Diagnosis: The Journey Ahead – Part 2:

*I will discuss the chromosome disorder, diagnosis of Autism Spectrum Disorder and turning an emotional experience into love and compassion.


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