Diagnosis: The Journey Ahead Part One


Estimated reading time: 5 minutes


The contents of this post is based on personal experience, and for information purposes.

Start of the Journey.

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

diagnosis, assessments
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. He appeared 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.


During pre-school, was when my son’s behavioural differences were predominant. He would hit his head repeatedly out of frustration. 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 him. The Psychologist noted behavioural differences, which resulted to his speech and language delay and inability to communicate.

The Educational Psychologist then communicated that she would review him later at nursery.


The nursery noted concerns, so by the age of three, my son 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 screaming out to throwing his shoes and socks across the room.

On his own accord, he would 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.

Journey to Assessment.

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

The Assessments.

After the initial assessment (which noted the speech, language, and developmental delay), a hearing referral for assessment was made (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 one of the children loved to 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.


The paediatrician thought my son was autistic, (although no diagnosis was made). We would have to come back at another time for another assessment.

Visit to Nursery.

A month after the assessment, I frantically rang the paediatrician and begged her to observe my son in his nursery environment. “He is not just autistic; I have a gut feeling that there’s something more. I know, I’m his mum!” Surprisingly, the paediatrician checked her diary and arranged with the nursery a visiting appointment.

Observation at Nursery.

After the observation, the paediatrician spoke with me, reporting that she had been baffled by my son’s behaviour. She still suspected he was autistic but referred him for a blood test to check for any chromosome disorders. The blood samples were taken, then sent to a London hospital for analysis. (laboratory examination on genetic information).

The Blood Test Results.

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

Journey to Diagnosis.

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

Oh no! Here it goes…

16p11.2 Microduplication.

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

That was the start of our journey, and experience to receiving my son’s diagnosis.

Part Two.

In 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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