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