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Here's why you should stay in bed until midday this Sunday.

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By LIZA DE MARTIN-PHILP and CAMERON PHILP

Our first-born child Rex De Martin Philp was born 20th September 2008. We were all so excited to meet our son Rex and not for one moment did we take for granted how blessed we were to have a healthy, handsome baby boy.

I now look back at 2009 and think how things can all change so quickly.

Rex experienced his first cold at 7 months and he became very lethargic and didn’t seem to be recovering. I had taken Rex to two GPs whilst visiting my family in the country, who gave Rex various cold medications that only seemed to make him more lethargic. I had also become concerned that, at 6 months, Rex was not showing any signs of sitting up or reaching some of the milestones that the other babies from mothers group were. Everyone kept saying that children all develop in their own time and to try not to compare, but there was a niggling and growing concern that things weren’t right.

During/post Rex’s lengthy cold, he seemed to regress. Rex had gradually stopped babbling, crying, smiling, focusing and he wasn’t really holding/grasping objects. I expressed my concern to our clinic health nurse who suggested I see our GP. I promptly made an appointment with our GP who thought Rex may have a muscular issue and referred Rex to our local paediatrician.

The day prior to our appointment, my husband arrived home to find me crying as I sat on the floor with Rex – I had tried everything, I had been singing, reading books, playing games and there was nothing, absolutely no response. By this stage I had also noticed a strange hiccupping thing that Rex was doing.

I just knew in my heart that there was something wrong – a mother’s instinct, I guess. However, I would never have imagined things were about to unfold as they did.

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I will never forget the day, our lives changed forever.

rex photoI arrived at the paediatrician surgery armed with my written list of concerns. The moment I mentioned the strange hiccups, and our paediatrician knew there was something seriously wrong, on cue Rex started to have what I now know and what the doctor immediately recognised, was an infantile spasm. Bizarrely, Rex had gone from having had 5 spasms in 3 weeks to 10 that day. We look back and realise how lucky we were to have a doctor who moved on things so efficiently.

We were raced to Sydney Children’s Hospital in Randwick and that is where our mito journey began. Rex, age 8 months, was diagnosed with mitochondrial disease Leigh syndrome.

Within a week Rex had a series of tests including EEG, lumber puncture, MRI, skin biopsy and numerous blood tests. Each day my husband and I were called into the office to receive more and more bad news. We very quickly learnt to dread being called into the office. It took one week to be told the worst possible news about our firstborn – that we would be lucky if our Rex would make it to the age of one and that he was a seriously sick little boy suffering from mitochondrial disease.

We were also faced with the decision of staying an extra week for Rex to undergo another operation as this was the only way to determine how Rex was born with the mitochondria disorder, which would offer a chance for pre natal diagnosis in future pregnancies – the only way we could safely have more children.

The outcome was that Rex unfortunately has the mitochondrial DNA mutation m8993T>G. This mutation can be seen in children who have features of Leigh Syndrome. The percentage of cells with this mitochondrial mutation in Rex’s cells was 95 to 100%. It is maternally inherited, however the percentage of my cells with the m8993T>G mutation are <5%, meaning that the mutation is undetectable or only present in a small number of my mitochondria.

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Somehow through all this stress, I surprisingly discovered that I was pregnant again. We have since given Rex two more siblings who bring him so much joy – Ted aged 3 and Millie almost 2. Thankfully, Ted and Millie have tested the same as me, undetectable – less than 5% of the mutation.

IMG_2851Rex has significant disability and developmental delay with hypotonia and weakness – he can’t walk, talk, hold things. He will require ongoing assistance for all aspects of his daily care and we manage his condition with a daily vitamin cocktail. We will continue to provide Rex with every possible intervention to improve his quality of life and to help him reach his highest potential.

Rex is about to celebrate his 5th birthday. It absolutely makes our day and brings us so much joy when we see our Rex’s beautiful smile and hear the wonderful sound of his laughter or when he shows us various levels of comprehension – truly puts things into perspective.

It has taken me some time to share our story, I hope that it can help others and raise further awareness for those that are unfamiliar with Mito disease. Sometimes by speaking or reading someone else’s story it can help you realise that you are not alone and that we all have a story and a roller coaster of emotions to go with them.

The journey can be challenging and we are unaware where it will take us but knowing that there are people who care and who want to help, brings us extreme comfort and makes the journey considerably easier.

Stay in Bed Day is on Sunday 22 September for the Australian Mitochondrial Disease Foundation, when Aussies can lie back guilt-free until midday by supporting people with mitochondrial disease (mito), a debilitating and potentially fatal genetic disorder that impairs the body’s ability to convert food into the energy needed to power muscles and major organs.

Mito is now the second most commonly diagnosed serious genetic disease after cystic fibrosis, but is little known as it was only recognised in the 1990s with advances in genetic research – more than 100,000 Australians are at risk of developing the disease. Needing to stay in bed to rest and recharge is a common outward symptom of mito, which may cause any symptom in any organ at any age and affects children and adults, often multiple family members.

Stay in Bed Day was conceived in Australia in 2009 and is the ultimate at-home event: ‘doing nothing’ for a good cause! In addition to donating or sponsoring others to sleep-in via stayinbedday.org.au, many people will host a brunch or pyjama party, have a bed-relay so there’s always someone in bed (or go from house to house in the neighbourhood) or get between the virtual sheets of the World Wide Bed at facebook.com/stayinbedday to post photos and messages of support.

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