After a drama-free pregnancy, on the 21 February 2015, Luca was born – drama-free. Here was this beautiful, amazing healthy boy.  Ten fingers. Ten toes. A healthy weight (4.075kg). He was to complete our pigeon pair, with his sister, Lilijana, that was born, (healthy) two and three-quarter years before.

From day one, we were so appreciative that we were blessed with two healthy children. Often commenting on how ‘lucky’ we were and that we “couldn’t think of anything worse than having a sick baby in hospital”. We couldn’t imagine what that would be like for the parents. The sickest Lilijana had ever been was with a tummy bug. We had never stepped foot in the children’s hospital before.

Seventeen days into Luca’s life, we no longer had to try to imagine being the worried and fearful parents at the children’s hospital. It became our reality.

Image of Luca

It was a day where I had to run around and complete a few errands.  Luca, being only two and a half weeks old, was feeding every two hours. I noted it had been three hours and he hadn’t really stirred, so I continued with my day, thinking perhaps my milk is filling him up a bit more – giving me a bit more time! (Bonus for a mum!) Got home from errands and really started to notice his skin was much paler than mine. I took a photo and sent it to my mum asking if she thought he looked pale. She agreed but put it down to me having olive skin, and Luca having fairer skin, like his dad. After some time, I started to get worried. He wasn’t crying, his colour still seemed a bit off. So I called the nurse on call service. They advised me ‘to be on the safe side – just go into the emergency department of the Royal Childrens Hospital (RCH)’.

So I did. Not stressed at all. I slowly made my way to reception. Because of his young age, we went straight through to triage. The triage nurse put the monitors on and held Luca.

When all of a sudden: Bang!

Like that. He went lifeless and blue. The triage nurse told me to hit the emergency button and ten doctors came in to the resus room. I was taken to the side as they worked on my darling little boy.

After many tests, (including a lumbar puncture) it was found he had an infection but they were unsure what type. They believe he was in so much pain, that instead of crying he was holding his breath. He would go pale each time this happened.

He had a urinary tract infection (UTI). He spent 5 nights in PICU (pediatric intensive care unit). I could not stay with him over night. I spent 12 hours during the day with him, then would go home and express milk every two hours over night ready for the next day and to ensure my supply kept up.

This was our first experience of our life being tipped upside down.

Two months later, the day Marc flew to USA for work, we were at the RCH again. This time, Luca was red raw and blistered all over. He was holding his breath again. He was in pain again. It was only an overnight stay – but the reason we were there was “extreme eczema”. Yes, something as common as eczema had my boy covered head to toe in bandages.

One month later (age: four months), after a routine maternal health nurse checkup, I was told to take Luca to RCH again. He was unable to lift his head and had lost 500g in ten days. Babies should not lose weight. After monitoring Luca and my feeding, he was ‘diagnosed’ with the term ‘failure to thrive’. What a horrible term for a mother to hear. Heart breaking. From that day, I was advised to breastfeed, then top Luca up with a bottle of expressed milk. In between breastfeeding Luca every two-three hours, I had to express my milk. This left me with little time to do anything else. Luca did put weight back on, but at the expense of my mental health. With family and friends rallied around, we got through a dark place and everything was starting to go well again.

At about five months, Luca started to smile and seemed to be developing. He started to show a personality. Was I finally going to start enjoying my baby, instead of just worrying? He was unable to lift his head or do “tummy time”. He was much like a new born.

From 6 months, he started to roll from side to side. Hooray! He’s developing as he should. We would see his pediatrician. And while he was happy with the slow progress, and ALL his (20+) blood tests coming back NORMAL, he did think we should consider having an MRI. So, we booked an MRI for 19 November.

By the time the MRI came around, Luca had completely regressed. He hadn’t cried for over a month. He had not smiled for longer. His communication was all but gone.

Five days later we met with our pediatrician who gave us the MRI results. There was significant damage to the brain which indicates a metabolic disorder. They were unsure of what type of metabolic disorder, so would need to keep him in at the hospital to try and work it out. Luca was in the hospital for two nights. Many blood, urine, stool samples taken…and another lumbar puncture. Nothing was clearly standing out. So, we were sent home with a “cocktail of vitamins”. We were a bit skeptical of the vitamins, but they definitely seemed to perk him up a little. He did not look as miserable as he was before.

In early December 2015 I noticed Luca was doing odd jerking movements. I wasn’t 100% sure if he was having seizures or not. He was. Luca had an EEG. On 18 December a meeting with our neurologist showed that Luca had “West Syndrome” or infantile spasms. His brainwaves, were very erratic. To combat this, Luca was prescribed a very high dosage of steroids four times a day for four weeks. We were warned he would be cranky, hungry and crying a lot. We were somewhat ‘excited’ about seeing our son show emotion again, as it had been three months of no smiles and two months of no crying.

We were told he had a ‘respiratory chain disorder’, which we didn’t quite understand.
We were told it might not be able to be treated. In hindsight, the neurologist looked quite concerned. Almost defeated. He didn’t want to tell us that information. It wasn’t good news to tell. But the words he used, didn’t seem daunting to us. That’s ok – we’ll just google it. The “West Syndrome” seemed to be the worse of the two evils? Right?

Wrong. Just days before Christmas. Our lives flipped upside down completely. It would be the first day of daily tears. Trying to get our head around things that are just so hard to understand. We met with the metabolic team at RCH. We had absolutely NO idea how our lives were about to change. We thought the appointment was to discuss what food we could bring into Luca’s diet, or something as naive as that.

Unfortunately, this was the day we were thrown the words suspected ‘mitochondrial disease’. I told the doctor that I would not ‘google it’. She told me the opposite. She said to google as much information as I could to prepare myself for anything and everything.

I asked naively, calmly and optimistically “HOW LONG WILL HE BE ALIVE?”
Answer: “we just don’t know”.
Google tells me “no older than two years if picked up in infancy”. But if I google again it says “rarely live to teenage years”.
Either way, I don’t believe I’ll be able to have a beer with my son at a bar in our future.

On 21 February 2016, we celebrated Luca’s birthday as if it were to be his last. We hope it won’t be. But we definitely helped him have such a great day!

Looking back at all the times we went to the hospital for Luca: the UTI, eczema, failure to thrive – these are all ‘common’ issues that happen to kids – but Luca’s body fights so hard that it becomes completely exhausted when something foreign happens to his body.  This is what happens to a body with mitochondrial disease.

Last week, when Luca developed a cold I watched him like a hawk as his breathing was so strained. Even with a common cold, I fear I’m about to lose my boy.

Fast forward to today, Thursday 19 May. Luca is on regular anti-seizure medication. He is smiling, crying and sleeping again. We are really enjoying him and watching him grow.
There are lots of things that he can’t do as a 15 month old, but we try to focus on what he can do. He can roll. He can laugh. He can watch us and his sister and he can certainly eat.  He can love. And we certainly love and adore him.

We have sent off our DNA for testing to hopefully get a clearer and official diagnosis.

I will do all I can to help get the word out there about mito. A disease where we feel so utterly helpless.

Nadja Edwards

May 2016