It ends with me: A vanishingly rare genetic mutation means Dean must battle a disease feared by millions - yet a scientific miracle means his daughters will be safe

Dean Kizi set himself a goal: to travel to 30 countries before he turned 30.

At the age of 29, he'd completed that mission. By then, the Sydney-based designer was newly engaged to his now-wife Anda, had a master's degree in architecture and was the owner of a thriving business. Life was, as he puts it, 'amazing'.

'We had just bought a house, and I was renovating it myself,' Dean explains.

'At the same time, I loved hitting the gym. I'd often work out to complete muscle fatigue. Plus, I was a young guy who loved to play hard on the weekends.'

As a result, when Dean started experiencing some physical oddities, he was quick to dismiss them as normal wear and tear.

'I noticed I was becoming a little clumsy at times,' he adds.

'I'd roll over on my ankle, and after a boozy night, I'd limp for a few days afterwards. I had also started twitching a lot - but as a young guy in the gym, muscle twitching was fairly commonplace.'

While he initially explained away these symptoms, an experience while working on the house one day made him pause.

'I realised that I couldn't stand on the toes of my right foot,' he recalls. 'I just couldn't manage it.'

A phone call with a family friend who was a physio led Dean to book an appointment with a neurologist.

'She told me it was something more serious than just muscle injury if I couldn't stand on my toes. So that's when I began looking for answers.'

But those answers wouldn't be straightforward.

'I saw everyone, from neurologists to kinesiologists. Every kind of "ist" you can imagine, I saw them,' Dean says.

Over four years, Dean would be misdiagnosed with several conditions, including Lyme disease, multifocal motor neuropathy, and 'nerve disease brought on by the flu'.

But treatments weren't working, and Dean's symptoms were progressing, albeit slowly.

'I was spending a lot of time consulting Dr Google over this time,' Dean says, 'and I came across the Brain and Mind clinic that Professor Matthew Kiernan was working at.'

It was here, finally, that Dean was definitively diagnosed - in the end, via a simple, bulk-billed blood test.

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'Under Matthew's care we undertook a simple blood panel, which came back with a hit,' says Dean.

'I received a phone call from a geneticist, and he asked me to come and see him - but it's never good news when you get a call from a doctor.'

The geneticist informed Dean that the diagnosis was motor neurone disease (MND) - 'confirmed via a rare sod1 mutation, this particular gene that Dean carried had only been documented in approximately five cases in Europe.'

'Dean has a familial form of motor neurone disease, associated with a genetic mutation that causes degeneration of the brain's motor system, leading to paralysis of voluntary muscles,' explains neurologist Professor Kiernan, who won the GSK Award for Research Excellence as the result of his groundbreaking work in MND.

'As a result of neurological assessment, brain imaging with MRI, neurophysiological examination and genetic testing, we were able to reach the specific diagnosis for him.'

Dean says he was too overwhelmed at the time to properly process the news that he had a terminal diagnosis.

'Prior to diagnosis, I remember not being able to sleep because I was googling my symptoms, and ALS and MND would pop up,' he says.

'It terrified me then and still does. Thirteen years on, I still don't know how to process the information, and I still can't sleep, because tomorrow isn't kind to people with MND.'

In that same appointment, the geneticist also asked Dean and his wife if they'd like a referral to a fertility specialist. Because Dean's MND could be traced back to a genetic mutation - only 10 per cent of cases can be - it was possible for the couple to have children who would be born free of the mutation via gene-selective IVF.

'We didn't even have to discuss it, we both said yes straight away,' says Dean. 'We knew we wanted to have a family.'

And so, while still processing the news of his devastating diagnosis, Dean and Anda went down the path of IVF.

'It's really hard on couples in general, but was particularly hard on Anda. It's hard on the body,' Dean recalls.

Experiencing setbacks and failed attempts, all the while navigating what life looked like with a degenerative disease, was incredibly challenging for the couple. Luckily, says Dean, they're both mentally strong.

At the same time, Dean was pursuing innovative new treatments for his form of MND - initially only approved in Japan. He has been on the treatment now for eight years, and currently has an infusion of the medication in the hospital each morning on a two weeks on/two weeks off cycle.

'One of the good things about having the genetic mutation I do, is that all of the treatments for MND are based around the sod1 mutation, because it's what the scientists use to inject the mice they're testing them on,' he explains, 'so in that way, I know that the medications are developed specifically for my type of condition.'

And then, finally, the IVF process was successful, and Dean and Anda welcomed daughter Alexa six and a half years ago.

'It was just pure joy when she was born,' says Dean, adding that the birth of his second daughter Aria two years ago was 'the final piece of the puzzle'.

And while parenting with a degenerative illness has its challenges, Dean is committed to pouring as much love and wisdom into his kids while he still can.

'Some of the physical things that regular dads can do, I can't do,' he tells me.

'I'm lucky that my form of MND is slow-progressing, and I can still walk and get around, but kids want to be on their dads' shoulders walking through the shops, they want to be spun around. I can't do that.'

Desperate to ensure his family is well-provided for, Dean says life now is about balancing the need to work and create a stable future for his girls, as well as spending as much time as possible with them while navigating the challenges of his condition.

'We want to build a house, and I want to make sure that they can live well for the next 30 years,' he says.

'My role is just to guide them through life, instill good manners, morals, knowledge, and give them the skills that they need to be independent to live without me. I think that's your role as a parent, to teach your kid independence.'

'They're kids, but they're bloody smart,' he continues.

'They absorb everything. I believe that the early years are the real foundation years for humans in general, so right now, I'm dedicating a lot of time into them, because I don't know how much time I've got left.'

Dean, whose general positivity and resilience comes through in every aspect of his approach, is resolutely philosophical about even this reality.

'You know, you may have an infinite amount of time, and that's still never enough time with your kids or your family,' he reflects.

'While I'm still here, I'm going to make it count.'