Sometimes you come across a story you know will stay with you for the rest of your life.
When I came across Rachael and Jonathan's story about their little Mackenzie, I knew this would be one such story.
I reached out to Rachael to ask if she'd share how little Mackenzie changed Australia forever. This is their story, this is Mackenzie's Mission.
Warning, this story talks about child loss and pregnancy loss.
For most people, it can take a lifetime to leave a legacy, and even then, it’s usually only for those loved ones who were close to them. But my daughter Mackenzie left a legacy after being here for only seven months.
On 11 March 2017, Mackenzie was born. That day my husband Jonathan and my life became complete. I was fulfilled in a way I never knew possible. I felt like my life was perfect. But at just ten weeks old, out of nowhere, we were told Mackenzie wasn’t moving as she should. What followed was two days of uncertainty before we were told Mackenzie had a genetic condition called Spinal Muscular Atrophy (SMA) Type One. It was terminal and she would likely live to only eight months of age. In that moment, my world tore apart and would never be the same. I still struggle to find the words to describe that moment; it is like the English language wasn’t made to convey that sort of pain.
We found out that SMA is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting. In essence, we were told that the motor neurons in her spinal cord didn’t carry messages to her muscles, which meant our baby girl would lose the ability to move her arms and legs, then her ability to swallow and eventually to breathe.
How do you begin to comprehend that? I still don’t know.
Initially I shut down. I couldn’t eat. I didn’t want to speak all I wanted to do was hold my little girl. I hoped my arms and my love could take all this away. I would have swapped my life for hers in an instant. Once the shock subsided, my husband Jonathan and I realised that our little girl needed us. We needed to show her the love and the life she deserved while we had her. If she only had months to live, she would only know love. We would give her as much life as possible.
For the next few months, we both took time off our work as Police Officers for the Australian Federal Police in Sydney. We spent every single moment making sure she was happy, entertaining her and loving her. We travelled Australia with Mackenzie showing her rainforests, deserts, oceans and rivers. She went to the zoo, participated in the city to surf, went to museums, experienced the light show Vivid, aquariums and had butterfly’s land on her arms. She tasted treats, experienced smells and sensations, went on helicopters and hovercrafts, stood in dinosaur prints, put her feet in sand and caught snowflakes on her tongue.
On 22 October 2017, Mackenzie passed away in our arms at Sydney Children’s Hospital. She had quickly deteriorated after developing the common cold. She was 7 months and 11 days old. My heart shattered that day. I wondered how I could still live without her in my arms but my emotions didn’t tell my body and somehow I kept breathing.
After Mackenzie was initially diagnosed, we began researching SMA and genetics. What we discovered angered us. SMA is a recessive genetic condition which means both Jonny and I unknowingly carried this genetic fault in our DNA and passed it on to our baby girl. When two people with the same fault get together their children will have a 25% chance of being affected by the condition, 50% chance of being SMA carriers themselves and a 25% chance of not being affected or a carrier.
We initially thought what we were going through was rare but in our research we discovered that every single person carries on average three to five genetic conditions in their DNA. Everyone. Yes you reading this – you carry these faults too. So whilst SMA is classified as a rare condition there are thousands of genetic conditions in the world and when combined genetic conditions aren’t rare. In fact the Jeans for Jeans website says that one in twenty children is born with a genetic condition or birth defect. These statistics are terrifying.
What happened to us happens every single day but people don’t speak about it because it is scary. We realised that we represent everyone’s biggest fear and easier to put our heads in the sand until it affects someone you know. But what if we could reduce child loss?
We wondered if there was any way for us to have avoided what happened to us. Not because we didn’t love our daughter, we do. I would live every moment over and over but I would never voluntarily make her struggle for breath like she did. We found out that there is a test to discover what genetic conditions people carry before they get pregnant and whether together, as a couple; they hold a risk of passing a genetic condition onto a child. It is a simple mouth swab that can be sent in the mail which costs a few hundred dollars!!!
Anyone can get the test but first you have to know about it. This test however, was only previously offered to those prospective parents that have a family history but four out of five children born with a genetic condition have no family history. So this process is flawed and dangerous. In fact some medical professionals don’t even know about the test. Learning this we got so angry.
How is everyone not offered this test? Why are people not offered it routinely? Why is this not common knowledge?
We decided to use our anger to create change. We began by writing a letter to all 275 members of the Federal Parliament. We introduced them to Mackenzie and asked for the following:
- Genetic carrier testing to become routine in Australia and be subsidised by the Government. This testing should be offered to all prospective parents. If they decide to have the test, it would provide them with information about any recessive genetic disorder that they might carry and whether they were at risk of having a child with a genetic disorder, as well as other information such as whether there is a treatment, etc.;
- Awareness to be raised about genetic testing amongst medical professionals as well as the wider Australian public; and
- The Government to subsidise IVF and pre-implantation genetic diagnosis (PGD) for those prospective parents who needed it for genetic reasons.
Over the next couple of months we started hearing back from members of parliament. Some of their responses disappointed us but most showed us kindness and support. Over the coming months we met with members of both the NSW and Federal Parliaments, including NSW Health Minister Brad Hazzard. Along the way, we also met a number of brilliant, kind health specialists and researchers who had all been trying for decades to make genetic carrier testing routine. During this time, I also began writing media articles, posting on Instagram and started a blog in an effort to get our message out.
There were some disappointments, of course, as a few media organisations ignored our requests, trolling comments on my Instagram or meetings with influential people who only met with us as a token gesture. But overall, the response was overwhelmingly strong and positive, just like our daughter.
Slowly we built an army; Mackenzie’s army.
In February 2018, we met with the Federal Health Minister Greg Hunt. I cannot adequately express to you the kindness, compassion and genuine nature of this man and his team. He cried with us for Mackenzie and promised he would create change, a legacy for our daughter.
After less than a year of campaigning, we achieved are goal and Mackenzie’s legacy was born. In the 2018-2019 Budget, the then Treasurer Scott Morrison announced $500 million for the Australian Genomics Health Futures Mission, $20 million of which was for Mackenzie's Mission, a pilot study of pre-conception screening for rare and debilitating birth disorders including Spinal Muscular Atrophy, Fragile X and cystic fibrosis. This will test 10,000 couples over the next 2-3 years for 1300 genetic conditions.
We have now spent the last almost three years living and breathing Mackenzie’s Mission and we are far from done. In 2022, we hope that Mackenzie’s Mission will be rolled out to all of Australia and become a routinely offered test that is free for all who want it. This will save others from the pain they have had to endure, provide treatments to sick children earlier and give families choice and information around their children’s health. In addition, we have had the guidelines changed by the Royal College of General Practitioners and the Royal College of Obstetricians and Gynaecologists to now say that they recommend genetic carrier testing is offered to all prospective parents rather than just those with a family history. We are also working hard to make sure we spread the message to the public and medical professionals as well as sitting on a number of the Mackenzie’s Mission committees.
In the last three years we have been also trying to have more children through IVF. With IVF we can test our embryos with only those that are healthy to be transferred. This has been a hard journey physically, emotionally, mentally and financially. We have endured nine rounds of IVF so far and devastatingly lost another two children at 14 weeks pregnant. One girl called Bella and one boy called Leo.
On the 19th March 2021, we welcomed Mackenzie's brother into the world, Izaac Casella. Four years after his big sister.Our life has been hard and it is not what we expected. We are good normal people. We are police officers. We pay our taxes and donate to charity. We thought karma would not hurt us, but bad things happen to good people. Despite our pain we feel like lucky people surrounded by love. Amongst our tragedy we have forged our identities. We are Mackenzie’s parents. We got the gift of our daughter and we refuse to see her life as only a sad story. She is so much more. She gave us perspective and love. She turned our grey lives into colour and we are better people for having known her.
We have been lucky to turn our journey into a book which we just released called Mackenzie’s Mission; we also are able to talk about our lives to people through my Instagram @mylifeof_love.
We hope our story helps others going through child loss, grief, IVF or termination for medical reasons. We hope it makes them feel less alone and becomes a resource for people. But I also hope that others take the time to read our story and learn from it. Whilst parts of it are hard our book has been described as beautiful, full of hope and full of lessons all should learn. I hope to be able to share the gifts Mackenzie has given to us. People shouldn’t look away from hard topics because difficult situations and emotions are the admission we pay for a fulfilling life.
Mackenzie’s Mission genetic carrier testing: https://www.mackenziesmission.org.au/
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