When Rachael Casella’s daughter Mackenzie was diagnosed with spinal muscular atrophy at 10 weeks old, she and her husband began a campaign to spare other families from the nightmare they endured.
Like most brides, I spent a lot of time planning for my big day. But in the run-up to my wedding I had something else on my mind too – getting pregnant. I couldn’t wait to marry Jonny and start a family. We began trying for a baby on our honeymoon. Yes, we were that keen.
I got pregnant two months after the wedding, but sadly I had a miscarriage at six weeks. We named the baby Hope because, as devastated as we were, we knew that we’d passed the first hurdle: we could get pregnant. Mackenzie was conceived the very next month.
It was a dream pregnancy. I loved carrying Mackenzie and couldn’t wait to meet her. I made sure that I did my bit to give her the best start possible, following the doctors’ advice to the letter. We took all the tests available and paid extra for the “Harmony test” (also known as Non-invasive Prenatal Testing – it assesses blood from the mother to look at the baby’s DNA), which shows more conclusively if there are any chromosomal abnormalities. So we thought we were prepared for anything.
At 39 weeks I noticed that Mackenzie wasn’t moving around as much as normal, so just to be safe, I was induced. It was a di cult labour, but on March 11, 2017, Mackenzie arrived via emergency C-section. Jonny took photos as Mackenzie was being born. She was wrapped up and whisked away for standard checks. And then she was brought to me and placed across my chest. I looked at her beautiful little face and fell in love. She was utterly perfect. Jonny took eight weeks o work and the three of us took our time getting to know each other. We were in a little bubble, content and happy.
But at 10 weeks, everything changed. Mackenzie, who had always been a good feeder, started to fuss on the breast, so I took her to a lactation consultant. She said that although Mackenzie was feeding well, she wasn’t moving the way a 10-week-old baby should be. She pointed out another baby the same age – he was doing “tummy time” and pushing himself off the floor. In contrast, she described McKenzie as “floppy”. I was gripped with a sinking feeling in my stomach. Something was terribly wrong.
I called Jonny and we tried not to panic – perhaps there was a simple explanation. Maybe we just hadn’t given Mackenzie enough tummy time. Maybe it was just a developmental delay. I got the first doctor’s appointment I could, but our concerns were not alleviated. The doctor told me to take Mackenzie to a paediatrician as soon as possible.
The first available appointment was two days later. Two long days of worry and stress. We walked into the appointment feeling sick. The paediatrician did a couple of quick tests and then brusquely told us that it looked as if Mackenzie had spinal muscular atrophy (SMA). We stared at him blankly and asked him what we could do. “There isn’t anything you can do,” he said bluntly. “It’s terminal.”
I saw stars. Everything became muffled. I held Mackenzie, my perfect baby, in my arms. She smiled and cooed at me. She had no idea that, right there in that clinical office, all of our lives had been shattered. We walked out of the appointment feeling totally stunned. Around us people carried on as normal, but for us the world had stopped spinning. We cried all night.
The following day a neurologist confirmed the diagnosis and explained more about SMA. It is an extremely cruel disorder. It affects the spinal cord and prevents messages being sent to the muscles. First, babies lose control of their arms and legs. Then they stop being able to swallow. At the end, SMA babies lose the ability to breathe.
On average, babies with infantile- onset, or type one, SMA live to eight months; maximum life expectancy is two years. Mackenzie was diagnosed at 10 weeks, so we knew that even in the best possible scenario we were already running out of time. We were going to lose our perfect baby.
I shut down. I stopped eating. I stopped talking. I just sat on the couch holding Mackenzie while Jonny sprang into action, making the tough family calls and getting organised. We were both coping in our own way.
We started doing research into SMA. We wanted to nd out how our Mackenzie had drawn the genetic short straw. We discovered that SMA is a recessive genetic disorder. Blood tests revealed that Jonny and I were both carriers. The statistics are pretty scary – all people are carriers for genetic disorders, but genetic testing is carried out only on couples that have a family history of such disorders. Tragically, four out of five children born with a genetic disorder have no family history at all. Knowing that we had inadvertently passed on this horrific condition made Mackenzie’s diagnosis even more devastating.
Jonny and I stopped working (we are both police officers) so we could give Mackenzie the best life possible. In between our fortnightly appointment with the specialist, we flew off to different parts of Australia. Over the next four months we took her to Broome, Cairns, Tasmania and Perth. She saw snow and caught snow flakes with her tongue. She saw the ocean and we put her feet in the sand. We did trips on helicopters and yachts. We did everything we could to make her short life the best it could be.
But we were also angry. In Australia it is standard procedure to test unborn babies for Down syndrome, so why don’t we test for other genetic disorders? Jonny and I had prepared so much for Mackenzie, but we were never offered a genetic test that could have picked up the risk of SMA. We realised that while we couldn’t save our baby girl, we could help other families and prevent more babies being born with death sentences hanging over their heads.
So while Mackenzie slept, we campaigned. When SMA is grouped with cystic brosis and fragile X syndrome then the risk is similar to Down. I wrote a letter asking for genetic testing to be introduced and, with our family’s help, we sent it to 275 members of parliament. We talked to politicians and medical professionals. The media started getting on board and there were a few stories about our campaign. But then, just like that, the bottom fell out of our world. On the morning of October 18, Mackenzie woke up unsettled. As I picked her up, she started to turn blue. While I frantically tried to get her breathing, Jonny called an ambulance.
I rode in the ambulance with Mackenzie as we sped to Sydney Children’s Hospital, sirens blaring. She fought hard, but over the course of four long days, her health deteriorated. She developed a cold and just didn’t have the strength to pull through. Mucus collected in her lungs and caused one to collapse. She developed internal bleeding in her stomach. Her heart rate crashed and she needed to be stabilised with an oxygen bag. I stood by, helpless, as my baby’s life hung in the balance.
We had reached the end of the road. There was nothing the doctors could do, except make Mackenzie as comfortable as possible. Knowing she was close to the end, we were moved to a double bed. She lay between Jonny and me. We played her music and told her about the adventures we’d had together. We told her we loved her over and over. And then, on October 20, we took off her oxygen mask and watched as she slipped away. The doctor’s words, “I’m sorry, she has passed,” still echo through my bones. She was seven months and 11 days old.
We stayed with her for some last cuddles. I changed her nappy, washed her and dressed her in a comfy onesie. We wrapped her in a blanket with her favourite soft toy for company, and then, with Jonny by my side, I walked her down to the morgue. I didn’t want anyone else to do those last things for my perfect baby girl.
The first few months were like a nightmare I couldn’t wake up from. Everything felt wrong. I was numb, but in the worst pain imaginable. One day Jonny and I lay on the floor where Mackenzie’s cot used to be and just sobbed. Somehow we carried on; we had a funeral to arrange as well as a larger farewell party – the first birthday party she never got to have. We sang her favourite song, Britney Spears’ “Baby One More Time”, and released balloons.
Shortly after Mackenzie passed away we received a letter from the federal Health Minister, Greg Hunt, inviting us to Parliament House in February this year. At the meeting the minister told us, through tears, of his plan to launch Mackenzie’s Mission: routine subsidised genetic testing and Pre-Implantation Genetic Diagnosis (enabling couples using IVF to have embryos tested before they’re implanted). I felt so proud to be Mackenzie’s mum – my little girl was a hero.
We went back to Canberra on budget day and sat with Minister Hunt as he announced that $500 million had been allocated for genomics, including Mackenzie’s Mission. I was overwhelmed – Jonny and I looked at each other and burst into tears. It feels strange to have something so wonderful come out of something so horrific. I’m sad it took Mackenzie’s life for the government to make these changes. But we’re also grateful they were receptive to our cause. It’s hard; all we really want is to have our baby girl back – and we would give up everything for that. But while there is no going back, we can prevent another family experiencing the same grief; knowing this truth eases my pain.
We have started IVF so that we can have another baby – a little sibling for Mackenzie. In fact, we hope to have two more children. Our kids will know all about their big sister; she will be part of our lives. We’ll honour her memory by donating toys to Ronald McDonald House at Christmas and on her birthday. Life without Mackenzie has been incredibly hard. But somehow we go on. We pass another milestone: her first birthday; six months without her; Mother’s Day. I make sure that I say her name every day and I want to hear it from others too. I don’t want Mackenzie to become a dream. She was here and she mattered. In this way, and through her incredible legacy, Mackenzie’s Mission, there is a part of her that will always live on.
For further information on how to contribute to Mackenzie’s legacy, visit mylifeoflove.com.