Diagnosis and the journey ahead

My son was born weighing 9lb 1 ounce. He was even an early walker at nine months. The only concern at the time was his inability to sleep. As a toddler he had a dislike of loud noises and being around lots of people. From the age of one he obsessively lined up every toy in the room and repeated this over and over. Moving the toys would cause great distress.

At the age of two he was still making babbling noises. I became extremely upset with constantly being asked ‘why isn’t he talking yet?’  I decided to enrol him into pre-school two mornings a week.

I thought that this would help him socialise with children his age and become confident so that maybe he would want to talk. Through the pre-school 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. They would then review him once he began at nursery. Here it was confirmed that he had a delay in receptive and expressive language.

The nursery referred my son to a specialist paediatric service for children with developmental disorders and delays. A month after the assessment, I was at my wits end, so I frantically rang the paediatrician and practically begged her to observe my son in his nursery environment. After her observation, she rang me to report that she had been baffled by my son’s behaviour and referred him for a blood test to check for any chromosome disorders.

The blood test results showed an abnormality: ‘Your son has a micro duplication 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 had been diagnosed with a rare chromosome disorder! I am still coming to terms with the diagnosis, I did the worst thing you could do and googled the disorder. You know when you pick up a prescription and read the list of side effects and think that you could get all of them? Well, it was exactly like that.

I felt overwhelmed with mixed emotions. It was not until myself and my son’s dad sat down with the paediatrician that we were informed that the signs and symptoms vary greatly in those affected. She then referred both of us for blood tests to see if the chromosome disorder had been inherited. We were also referred to a geneticist and our son to an occupational therapist. This was when we were handed a leaflet and first introduced to Unique – a charity that supports families affected by rare chromosomal disorders.

The geneticist we saw had never come across this disorder and was limited on what she could tell us.

Now, all the arrows had pointed to Unique, a charity that helps families living with rare chromosome disorders to help us gain information.

Feeling like a failure and as though I had emotionally been in a boxing match, I had to put on my coat of armour and get back to going to work and taking my son to school and his appointments.

Through all the hurdles and this hard climb up the mountain, I gathered strength. I truly understand the meaning of unconditional love and because of this I am more determined. The things I want to do in life, I just do them. My son has the quality of life that he deserves. I don’t know what the future holds but I can tell you that I no longer feel numb, I finally feel like I am LIVING!

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