Thursday 19 September 2019

'Day had been turned into the darkest night'

Vera Twomey and her husband Paul were told their daughter was gravely ill when she was a tiny infant. In an extract from her book 'For Ava', Vera describes the moment they got the heartbreaking diagnosis

Plea: Vera with daughter Ava (9) at their home in Co Cork. Photo: Daragh Mc Sweeney
Plea: Vera with daughter Ava (9) at their home in Co Cork. Photo: Daragh Mc Sweeney
For Ava by Vera Twomey

The first indication that we were in serious trouble was when we were escorted away from the suite by the neurologist and led into a separate room on the left-hand side of the corridor. I felt that no good news could be coming if we were being brought to a different area of the hospital. I worried that it was a room for delivering difficult news.

After being given maybe 10 minutes to settle ourselves, we were told the results of the tests, which had been sent to Glasgow. Ava's epilepsy wasn't a generalised form, nor was it hereditary. Paul initially thought that this was very good news; however, the neurologist said, "No, it's not".

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She was sorry to break the news to us, but the results showed that Ava had a mutated gene and, more specifically, she had a type of epilepsy known as Dravet syndrome.

I asked, "What does that mean?"

For Ava by Vera Twomey
For Ava by Vera Twomey

The neurologist frowned. "Well, it's a very rare form of intractable, drug-resistant epilepsy. It is also known as severe myoclonic epilepsy in infancy."

"What does that mean?" I again asked.

The neurologist was blunt. "It means that your daughter's outlook for the future is that she will never walk, she will never talk, she will be in a wheelchair and you will have to accept that she will be in residential care for the rest of her life. However, it is unlikely she will live beyond the age of three, as the mortality rate for Dravet syndrome is very high."

I hate swearing. I always feel guilty afterwards and think I should have made greater use of my vocabulary. My father drove that point home when I was young. That day in the hospital I don't even remember what I said, but the neurologist later described it as a most unusual reaction. I started to say, "No, no, no, fuck, fuck", etc. This is not the normal way that I react to bad news, but this was worse than my worst nightmares.

The neurologist went on to explain that there were only a limited number of drugs available to treat Ava's seizures, as many of the drugs used to treat generalised epilepsy were contraindicated (unsuitable for treatment, as they may worsen rather than ease seizures) in the case of Dravet syndrome. This resulted in Ava's options being restricted, the neurologist admitted; how­ever, she would do her best with what was available and would see us every three months to monitor Ava's progress.

Shell-shocked, we asked if there was any information available on the condition and were given three photocopied sheets that had been printed from the internet, titled, 'Dravet Syndrome for Dummies'. I kid you not! That's all we got, nothing more.

The meeting finished and that was it. We weren't offered counselling or any other form of help. With the meeting over, the reality of the situation hit me with renewed force. I had to be lifted out of the chair and half carried down the corridor.

We were escorted out via a side door into the car park. I was obviously hysterical. I was not offended by this being done, as it was as much for my benefit as anyone else's and it avoided upsetting other people. I guess it was a vivid example of pure shock.

I was really angered by how little information we had been given, particularly when I later Googled 'Dravet syndrome' and discovered that the Dravet syndrome UK website was massively informative. It had an abundance of articles and was linked to a Facebook page filled with parents going through the same hell. Why hadn't I been given literature from here, rather than one meant for 'Dummies'?

Day had been turned into the darkest night. Our beautiful little girl's future was changed forever. According to those with a medical background, there was no hope for Ava, which offended me to the core. If Ava's future was mapped out to be as depressingly short and pain-ridden as suggested, then we would have to accept it, but what Paul and I would never, ever do was give up without even trying.

These people were telling us all about when she would die and what she wouldn't achieve. Well, they could say what they liked, but in my mind I said, "Let's get to work and see if we can prove these boyos wrong".

At least we had a diagnosis now. Don't get me wrong, no parent wants to hear that their child has a rare and serious condition, but for the purpose of maintaining your sanity and on the practical level of conducting research, having a specific diagnosis is very beneficial. At least when you have a name, your ability to research is made easier, allowing you to approach groups, and later other parents who have children with the same illness. This gives you room to learn and hopefully help and protect your child into the future.

***

People suffering from Dravet syndrome have a much higher incidence of sudden unexplained death in epilepsy (SUDEP). SUDEP involves a sudden, unexpected death without any cause detected post-mortem. Some of the proposed mechanisms of SUDEP include seizure-induced cardiac and respiratory arrests. The random terror of SUDEP is never far from my mind, due to the severity and number of Ava's seizures.

There are many 'triggers' which can initiate a seizure. Something as mundane as the bath being a little too warm, a hot summer's day or an ear infection can lead to seizures. Then again, on other occasions, the attacks come without any obvious trigger. The child is constantly walking on a thin, wobbly tightrope, waiting for something to knock them off.

Often it is found that the seizures cannot be completely stopped and the best that can be achieved for the child is a reduction in their number and severity. An uneasy balance is maintained between minimising the damage the Dravet syndrome is causing, the number of drugs being administered, and the often undesirable side effects of many of the available medications.

I think it's fair to say that a diagnosis of Dravet syndrome is something you'll never want to hear.

This extract has been lightly edited

For Ava, published by Mercier Press, is out now

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