When our lives were turned outside down: Josh’s mum’s story

Penne Schwarz’s life was thrown upside down, changed forever, the day her bright and bubbly five-year-old son, Joshua, was diagnosed with terminal brain cancer. Penne is sharing her raw thoughts from diagnosis, her desperate fight to save his life, his death and to life now with the hope that families going through similar experiences will find solace in her words and to know they are not alone as they navigate life with a terminally ill child.

Part 1: Diagnosis

It was early 2013. We were just another suburban family, renovating our forever home, and had just bought a caravan to go on family adventures. I’d started a new course hoping to transition into a new career. Family meant everything to us, four kids, a dog and big dreams.

Then, every single part of our life crumbled. One word changed our lives forever. Cancer.

Our youngest child, then only five-years-old, was diagnosed with brain cancer. Not just any cancer, it was a rare cancer. Non-treatable. Incurable. He was given four months to live. That was it, all those hopes and dreams we had for our son, since the moment we discovered we were pregnant, now fell at our feet in a huge, messy, emotional heap.

This cancer’s enormity just kept knocking us deeper and deeper into a state of numbness, denial and fear. We tried to keep life normal, in fact, this was to become our new normal.

Unfortunately, so many people from our ‘old normal’ just couldn’t grasp the 24/7 whirlwind that cancer had thrown into our life. Friends we’d known for years slowly withdrew and disappeared, eventually tumble weed blew through the space once filled with friends. Cancer changes everything, forever. It obliterates families, can destroy marriages, steals dreams and leaves no resemblance of familiar life.  We sat in the cinema holding hands, quietly watching the previews for new movies coming soon, when my son gently whispered to me; “Mummy, can we come see that when it comes out”? My heart sank. It was due for release in six months. He’d be dead by then. What the heck just happened? This happens to other families, not ours. And, certainly not to our kind, gentle and loving baby boy, I thought. Amongst the tears and sobbing since cancer’s arrival into our family, we realised we couldn’t just watch the next four months pass by one day at a time. My mind kept visualising a clock counting down the days of my son’s young life. We had to do something, anything.

The oncologist, geneticists and neurosurgeon had told us there was nothing they could do, this DNA mismatch repair mechanism, which our son had inherited from both myself and my husband, complicated everything.

In the blur of being told our son had terminal cancer, my husband and I were told we were now one of 74 families in the world to have both parents and their child diagnosed with a familial cancer, CMMRD, MSH6. My husband and I both received the news that we too had a 90 per cent chance of developing cancer ourselves, with Lynch Syndrome.

I couldn’t sleep for months, not only couldn’t my mind or body relax, I felt absolutely nauseous knowing Joshua was dying one hour at a time as he slept next to me.

I’d sit in front of the computer for up to 16 hours a day searching for a cure, or anything that might save, prolong or enhance my son’s quality of life. I searched for clinical trials, treatments, hospitals, and clinics but barely anyone had heard of this cancer, let alone knew what to do for it. I sent hundreds of emails worldwide to anyone I hoped could help save our son. I literally begged for help, but it never came. The email replies were either ignored, or reiterated the rarity of this cancer’s prognosis.

“Your son is too young for this treatment.

“We do not know the outcome of this treatment on that type of cancer.”

“The legal implications are too great to attempt.”

A parent will literally do anything for their child, especially when it comes to saving their life. I even sent emails to Ellen DeGeneres, my thinking was she’d knew a lot of people, one might be able to help. I even contacted a celebrity gangster, Mick Gatto because I knew he was friends with world famous neurosurgeon, Dr Charlie Teo. I left no stone unturned.

The world is insane, that’s what I thought. I couldn’t grasp how no one was willing to try, or do anything to save this sweet little boy. As Joshua’s mum, I couldn’t fathom why this medical world couldn’t do anything. For me it was black and white – how could it have resources that can save a child’s life, but let mine die? The words of the specialists kept repeating in my mind, they knew what couldn’t save my son. But, I wanted them to look outside of conventional thinking and medicine to find what could potentially work.

And there lay my greatest responsibility. Someone had to do something, anything, and it started with us. Team Joshua was formed, Joshua, my husband and me.  I started researching. Firstly, what was this rare cancer, what made it so rare and different from other cancer behaviour?

I knew in my gut that the answers lay outside of conventional thinking, the specialists themselves had told us they had nothing that could save, prolong or do no harm to our child. I couldn’t even pronounce most of the words I was researching, or understand the science, but I had to learn. My son’s life was in my hands, and my hands only. First, do no harm. That was at the core of everything we did.

Until I could understand this cancer, which even if I could, it would take time, and time wasn’t something we had the luxury of. Things needed to start now, this cancer was here and it wasn’t going anywhere. The first thing we changed was our lifestyle and our attitudes, we let fear take control of our thoughts. We had to view this word; cancer, differently. It became a word which represented empowerment. We were empowered in our choices, informed in our decisions and conscious of our way of life. Everything, from the food we ate, cleaning products, cooking utensils, body care products and even the water we drank was to do no harm.  We sent off pathology all over the planet. We needed to know how our son’s body was functioning, or not functioning. This was an inherited DNA mismatch repair deficiency, which I needed to know at a genetic level what this meant so I could understand it.

The raw data for his genome sequence arrived via email at 3am. I’d been waiting for weeks for this genomic data, so much hope lay in what it would reveal. Instead, it was babbled bullshit on my computer screen, and I had no idea what the heck any of it meant. Or, how to interpret it. Or, where to start. The room was only lit by the light of the screen, and I lay in the dark on the cold floor in the foetal position sobbing because it was all so overwhelming.

I was exhausted. I wasn’t a doctor. I wasn’t a scientist. I was a mother, and that’s all I wanted to be. I didn’t want this responsibility. I didn’t want any of it anymore. I was begging, pleading, praying for this all to be over. For cancer to miraculously go away, for our old life to come back.

Our lives were 100 per cent committed to saving our son. From the moment we all woke, to the way we prepared for sleep, everything was created to encourage life, and aliveness.

This is part one of four of Penne’s story, continue to follow us as  we learn more.

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