When her daughter was just ten-weeks-old, Rachael Casella discovered that her gorgeous new baby was suffering from an untreatable genetic disorder. Faced with the unimaginable, Rachael made the decision to fight for Mackenzie and her legacy. Here she shares her story of love, grief and hope.

We spent the six months before our wedding preparing to get pregnant. We ate healthy, had blood tests, underwent acupuncture and even paid to have fertility checks done (before we had started trying!). Not long after our wedding we got pregnant, our first pregnancy sadly ended in a miscarriage, which was hard, but we knew they were common. We ended up getting pregnant the month after our miscarriage and whilst cautious we could not have been happier.

During the pregnancy we did everything we could to ensure we had a healthy baby including taking vitamins, doing the required scans and even had the expensive harmony (or NIPT) test.

The pregnancy itself was perfect! I loved every second of being pregnant. Our midwives said it was a boring pregnancy, which is exactly what you want.

Then around the day she was due and after an almost 40-hour labour which included an induction, two hours of pushing and an emergency caesarean, on 11 March 2017, our planned for, very loved baby girl was born, she was pure perfection. I have never felt happier and more at peace with life.

At ten weeks old I was starting to get the knack of parenting and was enjoying every minute. One day I decided to take Mackenzie to a lactation consultant because, whilst a good feeder, she was crying at the end of each feed. During the appointment, the midwife noted that Mackenzie was ‘floppy’. Scared I raced her to the closest Doctor who suggested we see a paediatrician as soon as possible.

Walking into the paediatrician’s office two terrifying days later I felt like I was going to faint. Within two minutes of assessing her movement he told us rather nonchalantly that Mackenzie had Spinal Muscular Atrophy (SMA) type one. Confused as to what that meant we asked what the cure was. The paediatrician said “it is terminal, there is no cure.”

Standing in the doctor’s office hearing the words terminal I shut down. Everything went blurry, sounds were muffled, and I felt like I was going to collapse. I stood over her as she lay quietly in her nappy on the bench. I held her hands and she stared up at me. We locked eyes, but she knew nothing of the knife that had just torn through my heart. She lay there oblivious to my turmoil, smiling up at me. I went to pick her up, but my legs were shaking so badly I hesitated.

We walked out in silence. Without a single word exchanged, Jonny and I carried our baby out of the hospital and down the street. We were in a daze, taking her home.  After we got home we called both sets of parents to tell them what the paediatrician had said. I don’t know how we made those calls, half crying, half stunned, still not believing. They were shocked by the news and no one knew what to say. What was there to say?

Our appointment with the neurologist was the next day where we would find out how long we had with her. We could not sleep that night. I cried all night, and watched her little face, held her hands, whispered to her, loving her.

In Mackenzie’s case, we were advised that we had a matter of months to create memories with her. And just like that, our world fell away. It felt like a living nightmare and we couldn’t wake up. We haven’t really woken up from it since that day.

For days we sat around the house stunned, until finally we stood up and made the decision to live. We would live with her for as long as we had her.

For Mackenzie, her symptoms were too progressed and severe for her age so the only option open to us was palliative care, to make her as comfortable as possible when the time came. We met with our local palliative care team to discuss what we wanted for Mackenzie’s end of life care, we planned and signed resuscitation/do not resuscitate plans for her and we went to Bear Cottage to see where our baby would most likely die.

I can not even begin to describe what each of these actions were like, it took all our strength to sit in those meetings and to walk through the doors of some of those centres. I wouldn’t wish that pain on anyone. Our only comfort was Mackenzie was too young to know anything.

After the initial shock of the diagnosis, Jonny and I talked about the lack of control we felt over our lives. We knew we could not stop what was happening, so we decided to look at what we could control and that was the time we did have with her. We decided a few things, first we would do this journey together we would be strong as a couple. These situations often break couples, but we decided this would bring us closer – she needed us. Secondly, we decided that we would do as much living with her as possible, every day we would create a new memory for her and for us. We would spend a couple of weeks at home living a normal family life with trips to the park, zoo, aquarium then we would go away for a week or two travelling. She travelled to nearly every state and territory in Australia, felt sand, saw snow, went to rainforests, desserts, travelled in helicopters, hovercrafts, boat, planes, you name it. She lived!

On 18 October 2017, Mackenzie suddenly fell ill with a cold. The first sign we knew that something was very wrong was when she began to struggle to breathe and stopped breathing briefly. We rang an ambulance and waited, panic stricken, whilst trying to get her breathing again. I rode in the ambulance holding my baby, singing in her ear. To this day the sound of an ambulance sends me into a frozen terror inside.

We found out that, given Mackenzie had SMA, her lungs and breathing muscles weren’t strong enough to help her clear the mucus caused by the cold. It had collected in her lungs, collapsing her right lung.

After two days in hospital, we were still hopeful that we would be able to bring our baby home, but then she crashed. On Saturday 21 October 2017, her haemoglobin levels showed that she was bleeding into her stomach. For 24 hours, the doctors tried to control the bleeding and she was given blood transfusions, but nothing worked. The bleeding continued. She was also dependent on the ventilation machine. Her treatment became comfort. We knew what that meant. That night we moved in to a double bed with her. We played her favourite music, held her, talked to her and slept close to her.

On Sunday, 22 October 2017, we took off her oxygen mask. Mackenzie passed away at Sydney Children’s Hospital lying between the two of us, feeling our love. After some time spent cuddling and talking to her, I changed her nappy, washed her. Together, we dressed her, and wrapped her in a blanket.  I picked her up and walking beside Jonny, I carried her down to the morgue. Together we placed her on the table because we did not want anyone else to do it. She was just a baby, our little girl. We didn’t want to lose her. But we did. Our hearts are forever broken, missing a piece.

Amongst our pain and sadness, we had anger, anger that Mackenzie had to go through this pain. We had never heard of SMA. Neither had any of our family or friends; however, we soon learnt that it is the number ONE genetic killer of babies under two. But it is largely unknown by anyone, except specialists, because often babies with SMA type one do not live past the age of two.

We then learnt that people can find out they are carriers of genetic disorders such as Cystic Fibrosis (CF) and Fragile X Syndrome (FXS) through a simple blood or saliva test. Learning this we got mad. We would never ever take back the time we got with our daughter but if we could have stopped her pain we would have. Sometimes love is so strong you would with go your own happiness to stop a loved ones suffering.

So I wrote a letter, a letter that described Mackenzie’s life, her condition and what could have been different. My family sent that letter to every member of the Australian Parliament, all 275 members. From there we received responses from members supporting our cause. Amongst all our letters we heard from the one man who could make a real change, Federal Health Minister Greg Hunt. Over the course of six months we wrote back and forth to him a few times each time we got support for our campaign and promises he would look into what we were asking for.

From there our story grew and we began doing some media, it isn’t our favourite thing to do and we had to balance this time with focusing on Mackenzie but we were so passionate and knew that the only way we could campaign for what we wanted was through using our story.

Finally, on the 28th of February 2018 we met face to face with Minister Hunt, along with the ABC’s 7.30 report. During our meeting with Minister Hunt he announced Mackenzie’s Mission, which will be the largest single investment of the Medical Research Future Fund. Mackenzie’s Mission will provide routine and subsidised genetic carrier testing for couples. It will also raise awareness for medical professionals and prospective parents about the hidden risks of passing on genetic conditions. It will also provide funding for research and treatment of genetic testing and finally, and eventually make IVF more accessible for couples who carry the markers for genetic conditions.

For people who know someone going through grief, any type of grief, the worst thing you can do is be silent. Yes, it can be difficult to interact with someone who is going through a pain that you cannot comprehend but they are still the same person. They need love and they don’t expect you to say the right thing or to fix it just say something simple like ‘there is nothing I can say to make things better, but I am here for you’. Don’t ignore their pain and most importantly keep saying their loved one’s name, the worst feeling is thinking they will be forgotten.

For those who have a child with a health condition or a terminal illness please know that you aren’t alone. You might feel like that but you aren’t, sadly there are many families going through the same.

Reach out for help if you need it, don’t be proud. If someone offers to do something for you this is the one time in life you just say yes.

Take each day as it comes. One step at a time, one breath at a time. The only things that matters is to make your child as happy as you can while they are here and your mental health, let everything else work itself out or put it aside until you can handle it. Sadly, the world doesn’t stop moving even though you want it to, just breath and be still, let the world move around you. Join it when you are ready.

In terms of grief, time won’t make it better, you will never get over the pain. You just learn to live with it, it becomes your new norm. That doesn’t mean you won’t be happy again but they will always be there, in your heart.

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