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REAL-LIFE MUMS / APR ‘2015

aiding Aidan

Research is needed to help two-year-old Aidan who is living with a little-known illness for which there is no cure.

Words NICOLE COX

“As a mum, you think about all those hopes and dreams you had. You fall in love with this little baby so much and I think for us, it’s absolute heartache.”

“Over time I knew that he wasn’t playing with toys the same way other kids were and his speech, the babbling sounds weren’t there. He wouldn’t always respond to his name.”

 

Aidan Loden excitedly splashes around in the bath putting his toy boat around the tub, amid squeals of laughter and joy.

Like many toddlers, water is one of his favourite play things and the nightly bath-time ritual, one of his happiest moments of the day. Even the tickle of running water on his hands makes him giggle.

At just two and a half years old, his super cheeky grin, wispy blonde hair and bright blue eyes beset a picture of innocence and childhood fun.

But behind this façade is heartbreak and anguish. These are ultimately some of the most precious memories his family will one day hold dear.

Aidan is living with a little-known illness called a mitochondrial chain respiratory disorder. It is an elusive condition for which there is no cure and a condition that is expected to abruptly end his short life in a most untimely and catastrophic way.

His parents, Fiona Elmer and Dan Loden, have been dealt an unimaginable blow. The sprightly, energetic little boy they hoped to rear into a man and share in his many firsts and special milestones is likely to succumb to his condition by his early teens, leaving shattered dreams.

According to the Australian Mitochondrial Disease Association, one in 5000 people live with a life-threatening form of mitochondrial disease. In conditions like Aidan’s, 50 per cent of children die before the age of three and for those who survive, most don’t make it into adolescence.

Mitochondria are the powerhouses of the cell that provide our bodies with more than 90 per cent of the energy it needs to sustain life. The disease presents when cells are unable to produce enough energy for the body to function properly, resulting in cell death, organ dysfunction and system failure. It can affect different organs depending on where the cell abnormalities lie.

The foundation says there are at least 100 known types of mitochondrial disease with new presentations emerging regularly.

“As a mum, you think about all those hopes and dreams you had. You fall in love with this little baby so much and I think for us, it’s absolute heartache,” Fiona tells Offspring in an emotional interview.

“I describe it to my friends like the Everready battery ad and Aidan is like at the end bit of that ad. I’m working off an eight volt car battery and he’s working off a DD battery, slowly losing power.

“It’s your worst nightmare really. There’s very little that you can do.

“I remember one time we were in hospital and there was a little girl in because she had extremely bad eczema and her mum was complaining because she had to be in there for five days to do these wraps to clear up her skin. I was just beside myself thinking: ‘If I could just wrap my little boy for five days and he’d be alright…I just wish I could’.”

Mitochondrial disease primarily affects children but is often difficult to diagnose with many symptoms initially masquerading as common ailments.

Symptoms include diarrhoea, vomiting, irritable bowel, visual and hearing problems and unexplained heart, liver and kidneys conditions. Seizures, diabetes, developmental delays, loss of motor control and muscle weakness are also key signs to an onset of the disease.

From the day Aidan was born in August 2012, his parents held niggling concerns that something was amiss. He was admitted to hospital three weeks after birth for “failing to thrive”, but doctors passed the issue off as breastfeeding troubles. Then there was jaundice, a suspected food allergy, overwhelming lethargy, extreme tiredness and diagnoses of gastroenteritis and chest infections over several months which medicos all put down to Aidan being a difficult, susceptible and sickly baby.

It was a revolving door of hospital visits. By the time he turned two, Aidan had been admitted to hospital nine times.

“Right from the beginning, I knew there was something not right, but as a first-time mum, you are kind of assured that it’s a feeding issue, it’s this or it’s that,” Fiona says.

“The strange thing was that Aidan’s early newborn screening showed up an abnormality that he may have a metabolic condition. At the time they told me that it had no clinical significance.

“But over time I knew. He was my kid and I watched him more than any other kid. Over time I knew that he wasn’t playing with toys the same way other kids were and his speech, the babbling sounds weren’t there. He wouldn’t always respond to his name.

“I did actually take him into emergency a couple of times and was told, look, he’s got gastro or a chest infection. I was trying to tell them that even the daycare people were saying he was really lethargic, but I didn’t get a lot of traction.”

An early assessment confirmed Fiona’s fears when staff at Perth’s Princess Margaret Hospital told her Aidan’s development was six months behind other children his age and referred the family to a team of metabolic disorders experts.

“All the normal tests that they did to show up all these diseases that seemed to fit Aidan, didn’t give us a confirmation. They did genetic testing…and they all came up negative so they were all scratching their heads not really knowing exactly what was going on until November 2013 when he got a cold and stopped eating.”

Three days later Aidan started vomiting profusely, had rapid breathing and couldn’t sit up by himself. What transpired was an agonising 48 hours, ventilated, on life support. When he woke he was listless, floppy and could not lift his head.

“That was probably the most horrific time of my life other than when we got the final diagnosis because they told us things like they expected he would have brain abnormalities and were preparing us for bad news,” Fiona says.

But remarkably a gamut of tests and a MRI came back normal, completely surprising medics.

However, Aidan’s biochemical signatures were unlike anything they had ever seen before and it was not until doctors sent tests to the Netherlands that it uncovered  a rare mitochondrial defect, which was diagnosed in October last year.

“Everyone was pretty shocked because it wasn’t what we were expecting and unfortunately for Aidan, there is no cure currently. So, in terms of prognosis, what we read about it is that it is extremely difficult to tell. The stats are that 50 per cent of children don’t make it past the age of three and most really don’t make it to their teens.

“The thing with this illness is that it’s a very complex diagnosis. Doctors really struggle to diagnose these sorts of things and the only way they’ve been able to do that is look for some sort of genetic mutation.

“The good news for Aidan is that he’s very atypical currently, so a lot of these kids when they get their first real viral infection their bodies don’t cope and they end up having some sort of respiratory failure.”

Fiona said she had been buoyed after initially being told by doctors that it was likely Aidan would “catch up” developmentally by the age of five, but his low muscle tone meant he would struggle to play sport.

“You make these kinds of deals with yourself,” Fiona says. “At first you want this beautiful baby and you have all these hopes and dreams and then you realise that some of them aren’t going to be possible, so you come to the conclusion that it’s OK because he’s going to be able to do all this other stuff and so what if he’s not going to be the world’s greatest basketball player.

“And then as it’s progressed, there have been times when I’ve thought he’s going to be OK because that’s what I really wanted to believe. To the point when we got his diagnosis and we realised that unfortunately, things aren’t going to be OK.”

Aidan’s parents hope they can stave off progression of the illness with physiotherapy, speech therapy, occupational therapy, a calorie-controlled, balanced diet and vitamin and mineral supplements.

Experts say doing nothing can worsen the symptoms of mitochondrial disease, increase the level of disability and dependency, and lead to a more grim prognosis.

“I’ve really struggled to find answers as to how long Aidan may have,” Fiona says. “Doctors have been really unwilling to talk to us about prognosis at all. I think the issue is that they don’t understand this enough at all and if he contracts something like chickenpox, it’s unclear how his body will deal with that and what repercussions of that will be and if it starts a rapid progression of the disease.

“But his doctors are incredibly hopeful. They just keep telling me that they don’t know a lot about these things and there aren’t many children that they see with this condition so maybe Aidan just won’t fit the mould and will buck the trend – and that’s what you’ve got to keep hoping.”

But for now his parents are focusing on celebrating even the smallest of milestones.

While Aidan is yet to walk or talk fluently, his parents say they have seen a marked improvement in his fine motor skills including feeding himself finger food and learning baby sign language, which he uses to sign a handful of words so his is better understood.

Fiona says she hopes Aidan’s case will form the basis for new procedures whereby abnormalities detected in newborn screening tests paired with other clinical evidence such as poor feeding and baby floppiness will force doctors to screen for mitochondrial disease early.

“We want to raise awareness about this disease and also funding for research to give hope to future generations.”

“As a mum, it’s just awful to sit there and not do anything. I keep thinking with Aidan that we have a real chance to find a cure. It may be too late for him because Australia really isn’t at the forefront of this sort of research.

“There’s no real great spin to put on it. This is me and a group of mums trying to raise awareness. The sooner you can help control these conditions with a calorie-controlled, high-protein diet, physiotherapy and other therapies the better quality of life you can give them for longer.

“I want to give confidence to other mums out there. If they’re unsure about something and they’re being told it’s OK, then it’s OK for them to question that. Sometimes mums can be overly cautious, but it can only be a good thing with something like this.”

*A group of Perth mothers have organised a parent-driven fundraiser event called The Green Tea for Mitochondrial Disease to raise money for research into the condition. The high-tea event will be held at Caversham House on May 3, with all money raised being channeled to the Australian Mitochondrial Disease Foundation to improve clinical practice, therapy and research towards a treatment and cure.

MITOCHONDRIAL DISEASE: THE FACTS

*Mitochondria are the power houses of bodily cells providing more than 90 per cent of the energy needed to sustain life.

*Mitochondrial disease is the reduced ability of the mitochondria to produce this energy. It is a debilitating and potentially fatal disease.

*One in 5000 people live with a life-threatening form of mitochondrial disease.

*There is not universal treatment or cure.

*There are at least 100 known types of mitochondrial disease with new presentations of the disease appearing regularly.

Source: Australian Mitochondrial Disease Foundation

 

FIND OUT MORE

Australian Mitochondrial Disease Foundation|admf.org.au

The Green Tea for Mitochondrial Disease | greenteaformito.com.au

NICOLE COX

Nicole has worked in print and online media for 15 years in Melbourne, Adelaide and Perth. Now she has the most adventurous job of her life - mum to energetic toddler, Matteo. Nicole says the flexibility of freelance journalism allows her to combine her two loves, motherhood and writing.