What it feels like… to receive a fatal diagnosis for your son

Just over a year after the birth of my beautiful boy, I found myself sitting in the office of a geneticist as he gravely looked over the papers in front of him.

Hermes – who came into the world in April 2011 with an annoyed little squeak rather than a wail – had been in hospital for 10 days due to a rotavirus infection, which left him vomiting non-stop and unable to keep even water down.

It had cleared up on schedule but left something in its wake – a warning sign in my son’s blood tests that something was very, very wrong.

I tried to remain optimistic as the hospital ran test after test to isolate the cause. They eventually sent off a sample to check for the worst-case scenario of what was throwing his bloodwork off.

With no family history, the chances of my son having a genetic problem to cause the abnormal blood work seemed so remote it was laughable.

The white-haired geneticist placed his fingers together and then looked at me. ‘Unfortunately, the news I have is not good,’ he said. ‘It’s Duchenne Muscular Dystrophy. I’m sorry.’

And with those words, my world imploded. Here was a condition I’d never heard of, which the doctors had told me not to Google and unnecessarily upset myself with before getting the results.

At first, it didn’t hit me, until I asked the doctor what the cure was and he told me there wasn’t one, and that the best I could do was to go home and give Hermes a good life.

Duchenne Muscular Dystrophy (DMD) is a genetic condition that affects roughly one in 3,500 live male births worldwide. Two-thirds of these cases come from a defective gene carried by the mother on her own dystrophin gene, the longest gene in the human body.

The rest, like my son, are the product of bad luck – a random mutation that no one can foresee with no family history.

It means that dystrophin, which is essential for muscles to remain elastic and rebound from injury, is either not produced in effective quantities or not produced at all due to mistakes in the gene. Miniscule blocks of this gene were missing from my son’s DNA and it means that, over time, his body will fail.

Walking gets harder until it stops completely, leading to patients eventually becoming fully wheelchair-bound and dependent on breathing machines. Life expectancy is usually in the 20s, or sometimes 30s.

There is no cure and there are no exceptions – in the end, Duchenne gets all its victims.

I left the doctor’s office and emerged into a beautiful May day, numb with shock. The sun drenched everything and I wondered how the world could keep turning when our reality as a family had been turned upside down.

My son babbled in his pushchair, blissfully unaware of how his life had drastically changed course.

In the initial days and weeks, I didn’t cry much and I refused counselling, at first. I felt that I knew the path we were heading down and I would deal with it as each obstacle came.

But as the months wore on, I began to fall apart. My mind started to crack under the strain of the realisation that unless a miracle cure comes along, I will very likely outlive my son.

Eight years on from Hermes’s diagnosis, I’ve remained in and out of therapy, occasionally turning to antidepressants.

His diagnosis was a terrible shock, but it came with a very unexpected surprise. As the years went by, my husband and I realised that when you’ve already lost the biggest gamble of your child’s health, there is very little else left to lose.

Life becomes extremely simple and you end up squeezing more out of it, because a diagnosis like this makes you realise how precious life is, and how short.

We went on to have another son – Hector – in 2013.

Given that Hermes’ condition was the product of a spontaneous mutation, the data remains unclear on how likely it would’ve been to strike twice. It wasn’t a risk we were willing to take, so with Hector I underwent genetic screening when I was 12 weeks pregnant to make sure he was healthy.

Throughout our son’s condition, my husband and I developed a dark sense of humour to cope, which only other parents with a similar diagnosis appreciate.

Once, while his paediatrician was reminding us to use suncream over the summer, I said ‘Oh don’t worry, it’s not skin cancer that’s going to get him!’ My husband and I sat giggling while he stared at us, appalled.

Another friend whose son has Duchenne also was telling me about his wicked sense of humour. ‘He could be a stand-up comedian when he grows up,’ I said. She paused. ‘Well, maybe not stand-up,’ she replied.

Many times our offbeat jokes have left others in shocked silence while we, the Duchenne parents who get the inside joke, laughed until we cried.

It goes without saying that it hasn’t all been easy.

Hermes is nearly 10 now and has stopped walking completely – a development that has upset him tremendously.

For example, during playtime at school, kids run off together and he feels extremely left out. He’s also been first out of his group of Duchenne friends to stop walking, so that was really challenging.

With a child in a wheelchair, I’m also seeing the world – that’s designed with able-bodied people in mind – around me in a new light.

We have banded together as a family to help him get through this latest obstacle.

Hermes knows that eventually his arms will get weaker, but that’s as far as I’ve gone with what the future holds. Partly because I hope there will be a therapy before things get really bad and partly because I have no idea how to explain to a child about heart failure, breathing problems and respiratory support.

Even with what he knows, he tries to stay positive, and we try our best to show him that life contains obstacles but we have to find a way around them. We don’t for a second want him to feel like his life is worthless just because he’s disabled.

One of the greatest lessons that a diagnosis as terrible as this has taught me is that we are a lot more resilient than we realise.

Somehow, in the midst of something so sad, we have found a way to be happy and to keep on living – even when the odds are stacked against us.

In this exciting new series from Metro.co.uk, What It Feels Like… not only shares one person’s moving story, but also the details and emotions entwined within it, to allow readers a true insight into their life changing experience.

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