What it feels like… to wait five years for a diagnosis for your child

At 18 months old, my son Ross was showing delays in crawling and walking, and so we had a check up with a health visitor.

They said that by this age, children should be saying six words – but Ross had no speech at all.

This was a defining moment. It hit home that Ross wasn’t developing in ways other children do. It left us anxious and it was clear something wasn’t quite right.

My pregnancy with Ross had been typical, so we didn’t have any concerns in that regard. When he came, he was our first child so we had no comparison. After we got the news from the health visitor, Ross was quickly referred for hearing tests, which they thought might be the problem – but that was all fine.

As young parents, we were just trying to get on with it but when he started to have more and more assessments we became concerned about what the future could hold.

Over the years, Ross’ developmental delays got more obvious. He began to walk when he was about two, but he didn’t have a lot of speech until he was six or seven.

We muddled on without a diagnosis – all we knew was that Ross was developing differently from children of his own age.

When he was four years old, there was a suggestion by professionals at a hospital unit – where Ross spent a week having cognitive assessments and tests – that he should go to a specialist speech and language school because of his lack of speech. We were relieved there was finally an offer of help and support.

He was assessed for admittance, but we were bitterly disappointed when the school couldn’t support him. The school, alongside a community clinical psychologist that we had been assigned, thought Ross had a learning disability and the school didn’t feel able to cater for his needs.

More tests followed – blood tests, more hearing tests, and lots of cognitive assessments as well as physical health tests. This included a week stay at a centre where, amongst others, a test for Fragile X Syndrome – a genetic condition that is the most common inherited cause of a learning disability – was done.

We waited months for the results – this was before DNA testing so it was a long and complicated process. In amongst all the other assessments, we had almost forgotten about it.

Then, aged five, a letter from the hospital arrived on a Saturday morning saying that Ross had Fragile X Syndrome.

I was shocked to get the news via a letter and not in person, without any chance to ask questions or understand what it all meant. The letter went into detail about the genetic implications for the wider family but there was no real information about how a diagnosis of Fragile X Syndrome would impact on Ross’s life.

We desperately needed someone to talk to.

The letter contained a phone number but, when I phoned, it rang out for ages. Looking back, I don’t know why I held on – desperation I suppose – but I let it ring on and on.

Suddenly, the janitor who was on duty in the genetic clinic answered the phone, very bemused, and said the clinic was closed and to call back on Monday. I broke down and started telling him about the contents of the letter.

He listened, and said he’d seen a poster in the waiting room about my son’s condition. He gave me a phone number for the Fragile X Society whom I called immediately – thank goodness for the parent who took my call that morning.

I can’t remember the specifics of the call – the whole thing had been a shock – but I’ll never forget the mother who dropped everything to speak to me and who became a good friend. She answered my questions and reassured me and, to this day, the Fragile X Society continues to be a lifeline.

Following the diagnosis, the first doctor we spoke to a week or two after getting the letter said that our son wouldn’t ever learn to tie his shoelaces or ride a bike and may end up in institutional living.

It was so upsetting to hear everything described in such negative terms – it also proved to be entirely wrong (well except for the shoelaces – thank goodness for Velcro!) A diagnosis meant that, finally, we at least knew where to look for support.

We had been stumbling across information for years through various tests and being able to talk to other parents – through the Fragile X Society and Ross’ special educational needs school – was so important. Their support made all the difference.

When we realised that Ross had a disability, I made the decision to give up work to be his primary carer and we moved from London to Scotland to be closer to family. It made a huge difference having family support, and I had more time with Ross.

Accessing services such as speech and language therapy was also important, but it was only later in Ross’s life that we got more access to services – and this made the crucial difference.

Ross’ teenage and early adult years were very difficult. It was only then – when we reached a crisis point and couldn’t cope – that we got the help we needed. Respite care and help from support workers, as well as working with a clinical psychologist around positive behavioural support for Ross, changed everything for the better.

It came very late but I know that Ross and our family wouldn’t be where we are now without it – which is why we desperately need to see more investment in social care support for families everywhere.

Charities like the Fragile X Society, who we turned to at the time, and Mencap, which provides direct support and campaigns for the rights of people with a learning disability nationally – and where I am the CEO – can also be a godsend for families of people with a learning disability looking for support. 

Despite the challenges, we have always focused on what Ross can do like swimming and sports, his attributes and talents, and less on what he can’t do.

He is now married and has two supported employment jobs – one in a local hotel and one in a coffee shop. He is a Special Olympian and has won medals for swimming in the past. My son is living a fulfilled and valued life – that first doctor we spoke to was completely wrong.

There are many things that I would hope have changed for people receiving a diagnosis of a learning disability today.

I would hope that the news is always given in person, and with non-medical help and support to hand. While the genetic implications were explained in great detail to us at that first meeting, nothing was offered by way of social or practical support.

I hope a more balanced and less negative view of learning disability is expressed but sadly we know this isn’t always the case.

A survey from Mencap – which gathered responses from 116 families of children with a learning disability aged between zero and five years – found only 31% of parents or carers said they received the right type and amount of information from the hospital care team in the weeks and months following their child’s diagnosis.

Many said their experience of diagnosis was negative, confusing and traumatic.

For us, getting help earlier and having proper support in the early stages of Ross’ diagnosis would have prevented a lot of problems.

All too often, inequalities for people with a learning disability – including in healthcare – start at the point of diagnosis, and last throughout their lifetime.

To tackle this, Mencap’s new Children’s Campaign is calling for a hospital Disability Coordinator role to support families of children with a learning disability, from the point of diagnosis and beyond.

Mencap has released new resources that provide information and guidance for parents about the support and services that should be available from healthcare professionals. Resources for healthcare professionals concentrate on the importance of communication and what support they should offer.

These aim to support and inform parents and healthcare professionals when a diagnosis of learning disability is made, and we’ll be launching further resources that support parents of children with a learning disability in childhood and as they grow older. 

I know what it felt like to receive a diagnosis without the right support – no parent should have to go through what we did.

To find out more about Mencap’s Children’s Campaign and for resources for parents and healthcare professionals visit their website here or contact their helpline here. For details about support from the Fragile X Society, visit their website here.

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