"He passed away in our arms and took his last breath on his Daddy’s chest" - Elizabeth Tierney Shares how she Tragically Lost her Son to Mitochondrial Disease - The Grace Tales

“He passed away in our arms and took his last breath on his Daddy’s chest” – Elizabeth Tierney Shares how she Tragically Lost her Son to Mitochondrial Disease

This week, it’s Mitochondrial Disease Awareness Week. If you haven’t heard of this disease before, here’s a rundown. In short, we all have mitochondria. The mitochondria in the cells throughout our bodies are responsible for creating 90% of the energy needed to sustain life and support organ function. When mitochondria malfunction, organs start to fail. Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fail to produce enough energy for cell or organ function. 14 short months ago, Elizabeth Tierney tragically lost her son Cooper when he was six months old, to Mitochondrial Disease. Here, she bravely shares her heartbreaking story with The Grace Tales to raise awareness of the rare disease, and awareness of the importance of Genetic Carrier Screening tests...

From 12 weeks old we were told that I had a high chance of having preeclampsia during my pregnancy and that my placenta was not providing our baby with enough nutrients so to expect a low birth weight. I was cleared to be induced at 37 weeks + one day after spending four weeks leading up to that point in and out of hospital with high blood pressure caused by preeclampsia.

After over six hours of labour, we delivered our beautiful little boy Cooper naturally on the evening of Christmas Eve 2018, weighing just 1.8kgs and measuring 45cms tall. He was our early Christmas present and he was perfect.

My husband was right there as Cooper entered the world and I remember looking at his face as he fell in love at first sight with our son, this is a moment that I cherish forever. Our midwife put Cooper on my chest for just a minute before taken to be assessed by the doctor and wrapped up ready to go to the NICU.

I was then allowed a brief 10-minute cuddle of my beautiful little boy and I remember as soon as the midwife put him in my arms everything fell silent and I was speechless. What do you say to the precious little soul that you have carried for almost 9 months, nothing.

He knew me before I knew he even existed. Having him in my arms and our hearts beating together made it clear that we were both exactly where we were meant to be, so there was nothing to do but just be. After a few family selfies, Cooper and his Daddy were off on their first adventure to the NICU. My husband stayed with Cooper and provided almost three hours of skin on skin which is another moment that I am incredibly grateful for.

Cooper was diagnosed with a Mitochondrial Disease at three weeks old, Fox Red One.

Leading up to getting a diagnosis Cooper was showing a few alarming signs such as a high lactic acid level, he would drop his oxygen randomly, there were signs of seizure-like behaviour and a few other small symptoms that a baby with low birth weight might experience...

The genetics team at Sydney Kids offered our family to take part in a research project that performs a rapid genomic test and would provide results within five days. This testing is unavailable to the general public and the majority of families searching for a genetic diagnosis can endure months and even years of invasive testing and incorrect diagnoses before getting the correct condition diagnosed.

All three of us, were tested and we received our results within three days. My husband and I sat in a small room with multiple teams and were told that we were both carriers of a mitochondrial condition. A condition that we had no knowledge even existed and no family history prior to Cooper.

We were told that sadly we had passed this affected gene onto Cooper giving him a mitochondrial disease – Fox Red One gene mutation. These words were followed by the information that there is no cure, the best they could do is try to treat the symptoms, but our son would suffer and there was no clear journey of what to expect and how long he would have.

I didn’t believe that this could happen to our child. We don’t have a history in either family of any children being born with a genetic condition...

This didn’t happen to people that we knew, this happened to a rare percentage of families that you see their stories on social media or TV. So to sit in a room with a team of professionals explaining to us that we were both carriers of a genetic condition we had never heard of and that we didn’t know existed was devastating.

The same disease that would rob our son of all of his hopes for the future. Every dream, every possibility, every memory we hadn’t even made yet. It felt like our journey was being cut short before it even began.

I remember sitting there with their eyes on us, me putting on a brave face for my husband and looking back at these professionals as if to say – you got it wrong and our son will be the exception because he was unlike anything we had ever dreamt of.

We left that meeting and went straight to Cooper, to hold him, to love him and make sure he knew that we were ready to fight. Throughout our journey, I bargained with God, the universe and any higher power to give our son a miracle. That I would give anything – my sight, a limb/all of my limbs, my life – give me Cooper’s burden and grant my son what he deserves, a chance.

From that day I started to begin the grieving process knowing that I would likely outlive my child while simultaneously getting ready to get through every obstacle that came at us.

Cooper spent his first two months of life in the NICU where he struggled to find stability in his health to be able to come home. He was always putting on weight as he was feed by NG tube and I was lucky enough to provide him breastmilk the entire six months. Once released we spent two months in and out the of hospital and the remaining two months at home.

Cooper lived with seizures that would cause him to stop breathing (for up to five minutes was the longest time), a heart condition, lactic acidosis, intermittent hypertension, swallow incoordination, hearing impairment and hypospadias. Our life seemed to be all about hospital visits and appointments, as Cooper’s condition was unpredictable we were always ready for anything.

My husband and I opted to be trained to use a bag and mask so that we could resuscitate Cooper as needed. While Cooper was at home we had two respiratory monitors on him to alarm if he had stopped breathing as well as an oxygen tank for additional support.

Early one morning we woke to Cooper’s alarm going off, he had stopped breathing. My husband begun to bag and mask Cooper for a minute while I called an ambulance and prepared the oxygen tank.

By the time the ambulance had arrived, we had managed to get Cooper’s levels back to stable and we were off to the hospital for more monitoring. I am grateful for my husband’s strength throughout our journey and the support we had for each other during that time to give Cooper the best care possible.

We were fortunate enough to have the best superhero team of health professionals that through their passion and care for our son allowed us to make six months of beautiful memories amongst the chaos.

My husband and I never talked at length of what would happen when Cooper passed away because speaking it out loud felt like we were giving it energy in the universe...

Our little Cooper was so resilient throughout his journey, we would have the most horrific days where I thought it was the end but the very next day he was kicking goals and making memories.

The toll on his body was excruciating to watch and at times it felt as though he’d never get a break. However, the last couple of days were torture. He was struggling to breathe without oxygen support and he looked so tired.

Our paediatrician spoke to us and advised there was nothing more they could do but make him comfortable. So, our last day together was spent in the hospital. I woke up early to express and hold Cooper as we did every morning. We had family members visit not to say goodbye but to share their love. It was an unspoken truth and although we all knew what was going to happen we didn’t dare let it leave our lips. We gave Cooper a bubble bath and full body oil massage, he did some hand and foot painting while listening to a guitar play him sweet lullabies.

Then that evening my husband and I played all of our special songs while singing to our beautiful Cooper as he passed away in our arms and took his last breath on his Daddy’s chest.

“ Then that evening my husband and I played all of our special songs while singing to our beautiful Cooper as he passed away in our arms and took his last breath on his Daddy’s chest ”

The grief process has been an unpredictable monster and something I know that we will always struggle with. It’s been extremely hard to manage especially because we all grieve in different ways and at different times...

I found that diving into research about Cooper’s medical condition and advocating for Mitochondria Disease awareness and genetic screening tests gives me a sense of purpose. It has become my mission to try and assist in these fields in any way possible, whether that is raising awareness, raising much-needed funds, sharing our journey and being open about our feelings to ensure that others know they are not alone.

Each day is different so it can be hard at times as grief can suddenly hit you like a train when you least expect it. Everything about our life reminds me of our beautiful boy Cooper. But one thing Cooper has taught me is to be grateful, grateful for the time we did have, for the moments were shared, that I was lucky enough to see his face, watch him grow as a person and to give him my unwavering love and feel his love for us in return.

There are so many things that you lose when you lose your child – our sense of identity, feeling connected to others, planning for the future, the realisation that society is scared to talk about my child, trust that things will have a positive outcome, knowing I will never hear him say, Mummy or Daddy, the ability to think good thoughts before going to sleep, realising that my memories of Cooper will fade and that I will only ever have finite amounts of photographs and memories and there will never be any more.

Mitochondrial diseases have NO cure and NO treatments.

Mitochondria are the powerhouse of the cell, they provide the body with over 90% of the energy it needs to sustain life. When the mitochondria are not working properly, cells begin to die until eventually whole organ systems fail and a person’s life itself is compromised.

Mitochondrial disease (mito) is a debilitating and potentially fatal disease that reduces the ability of the mitochondria to produce this energy. 1 in 200 Australians may carry genetic mutations that will put them at risk of developing Mitochondria. Everybody carries on average 3 – 5 genetic conditions that they are unaware of.

1 in 5000 people will develop a severe or life-threatening form of Mitochondria – that’s 60 children per year. Every couple starting or continuing their journey to build a family should consider having a genetic screening test performed.

Currently, there are various genetic carrier screening tests that can be requested through your GP (sometimes fought for) that start from $350 per person and screen from 3 conditions to 533 conditions.

Every aspect of my life is different since losing Cooper...

He is my greatest achievement and has made me the person I am today. His resilience and love taught me more in his short six months than I’ve ever learnt in my lifetime. I live in his honour and strive to make Cooper proud of the energy I put out. In saying that I also feel lost, like there is a huge part of me missing that I can never recover. I’ve lost so many pieces of my heart and soul that I wonder what is left at times. Every day is different and comes with its own challenges but I am thankful for the fight our beautiful son gave to give us six months and one day of this beautiful love.

Mitochondrial Disease Awareness Week is celebrated globally to educate and increase awareness about mitochondrial disease and runs from Sept. 13- Sept. 19 2020. For more information, go to mito.org.au