Like most new parents, Rachael and Jonny Casella’s life felt complete when they welcomed their beautiful daughter, Mackenzie, into the world. Seven months later she was gone … claimed by a cruel genetic disease. It ripped their life apart. Consumed by pain, Rachael & Jonny have bravely transferred their grief into creating a legacy for Mackenzie by helping other families avoid the same heartbreak. The Delivery speaks to Rachael about her vibrant baby girl and the simple test conducted in pregnancy that all women should be informed about.
Can you please tell us about your life with beautiful Mackenzie?
My husband, Jonny, and I are a normal couple living a happy life with our beautiful daughter Mackenzie, well… we were.
Jonny and I live in Sydney, we both work as police officers and have been married for two years. We knew we wanted to try to have a baby as soon as we got married. We spent the six months before the 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!). I read everything I could get my hands on and luckily not long after our wedding we got pregnant, our first pregnancy ended in a miscarriage which was hard but we knew sadly they were common. We ended up getting pregnant the month after our miscarriage and 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.
On 11 March 2017, our planned for, very loved baby girl was born. We called her Mackenzie and she was pure perfection. I have never felt happier and more at peace with life.
Jonny and I had ten blissful weeks with Mackenzie before our world fell apart. At ten weeks old Mackenzie was diagnosed with Spinal Muscular Atrophy (SMA) type one. We were told it was terminal disease, there is no cure. 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.
Mackenzie’s diagnosis with Spinal Muscular Atrophy obviously turned your world upside down … if you feel comfortable can you please take us back to how it all unfolded…
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. Instead I started to automatically dress her as I heard Jonny’s voice asking questions. He had gone straight into work mode wanting to know all the details. I didn’t hear a word of what was said.
My mind kept saying, “This isn’t happening, this isn’t happening. He is wrong! But he wasn’t. I picked her up and rocked her, and myself. At one stage, I turned to Jonny and said “What just happened?” We had walked into that office thinking we were lagging in her tummy time, just a simple developmental delay, but now it felt like “how is this happening? It isn’t. It can’t be!”
We walked out in silence. Without a single word exchanged, Jonny and I carried our baby out of the hospital and down the street. All around us there were people walking along in their ‘normal’ world, like nothing had changed. A drunk sat on the corner drinking a bottle of wine. I wanted to smash the bottle out of his hand and scream, “How can you wreck your body like that when my daughter doesn’t even get a chance at life. MY BABY WILL DIE. F**k you! You don’t deserve this life”. Instead, we walked in silence, and people were bumping into us, not bothering to go around. It seemed that the world was too busy to stop for us. We walked into the carpark and placed her in her car seat. We got into the car and sat there with the tears running down our faces.
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.
“For grief, you’ll find it comes in waves. When the ship is first wrecked, you’re drowning, with wreckage all around you. Everything floating around you reminds you of the beauty and the magnificence of the ship that was, and is no more. And all you can do is float. You find some piece of the wreckage and you hang on for a while. Maybe it’s some physical thing. Maybe it’s a happy memory or a photograph. Maybe it’s a person who is also floating. For a while, all you can do is float. Stay alive.”
We kept saying to each other, “This isn’t happening. This isn’t happening. We are good people. We are police officers, we pay taxes, we give to charity. We planned for her, she is here, she is perfect”.
I am not religious but I started bargaining with someone out there. Any one. Any god, any higher power or spirit that would listen.
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 October 18, 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 breath 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. 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.
What exactly is SMA and what should all expectant parents know?
We learned that SMA is a neuromuscular disorder, characterised by loss of motor neurones and progressive muscle wasting, often leading to death. Basically, babies with SMA lose their ability to move their limbs and then it affects their organs, slowly they lose the ability to swallow and finally to breath. The average age of a baby with SMA is eight months old. It is a cruel, horrific disease.
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.
SMA is a recessive genetic disorder. Meaning people carry this gene defect in their DNA but often don’t know about it. Carriers do not have symptoms, but if two carriers have a baby, there is a one in four chances of each baby being affected by SMA, and a two in four chance of a baby being a carrier themselves. One in forty people are carriers of SMA!!! Why hadn’t we ever heard of SMA?
Currently, doctors only refer someone for pre/early pregnancy genetic screening (that is testing to see if you are a carrier) if they have a family history of a genetic disorder (e.g. disorders like Cystic Fibrosis (CF) and Fragile X Syndrome (FXS),) but we didn’t have any family history of SMA. Actually, one in five affected children have no family history so this current view on genetic testing is dangerous and fails.
A recent study by Australian Murdoch Children’s Research Institute shows that if you combine the levels of SMA, CF and FXS, one in twenty people carry one of the disorders. In addition, the prevalence of the three disorders is comparable to the prevalence of Downs Syndrome!! In Australia, we routinely test for Down Syndrome, if it is just as prevalent but also leads to death or severely affected life we should routinely test for these recessive genetic disorders. Pre/early pregnancy genetic testing is now recommended by the American College of Obstetricians and Gynaecologist for all women.
SMA may not be curable right now, but it, as well as other genetic disorders are 100% preventable through pre-pregnancy or early pregnancy genetic testing of the prospective parents. If you are planning children (even if you have already had children) go to your doctor and get a referral this simple genetic test.
“I wish I had developed this perspective without having had to go through this. But I choose to see this as a gift that Mackenzie gave me. She made me a better person, she changed my life. To forget my new perspective, and not act on it, would feel like I was dishonouring her life.”
Are there any common signs or symptoms to be aware of?
There is wide variability in age of onset, symptoms and rate of progression of SMA and it is often classified into types zero to four based on the physical milestones achieved. SMA type zero will be born not moving and will die shortly after birth. SMA type one is the most common form, which is what Kenzie had. Adults are usually diagnosed with SMA type four in their second or third decade of life, usually after the age of 35, although some may have symptoms as early as 18 years of age. This type of SMA is much less common than types one to three. Symptoms usually include mild muscle weakness, tremor and twitching. SMA type four is also known as adult onset spinal muscular atrophy.
The signs or symptoms for SMA type one are low muscle tone and limited movement. Being new parents we didn’t notice any difference in Kenzie, our GP didn’t even notice a difference in her at her six week check- up, she was hitting all her milestones. But by ten weeks old, a lactation consultant noticed she was ‘“floppy”. They stated she should be able to hold her head up off the ground during tummy time and didn’t kick her legs around as much. However, for people with SMA two and above the symptoms wouldn’t start until later on. Without a blood test there is no way to confirm if you have SMA or are a carrier.
In the seven short months you had with Mackenzie … what did she teach you?
I don’t even know if I can effectively describe the lessons taught to me by Mackenzie. The last year has taught me more than I can express. It is like my eyes are open wider than ever before and I am still not done growing and learning from her even though she is gone. Mackenzie was a little person, who was here for a small amount of time but her effect is profound. Mackenzie’s existence is life changing and I know she has (and will) change the lives of others not just mine.
I feel like there is a ‘me before’ and a ‘me after’. I like myself better now, the ‘me after’, with Mackenzie, is a better person. I used to be a kind, caring, empathic person but I was also strong, dedicated, determined and I had type A personality tendencies, which was both a positive and a negative. It meant that I put everything I had into my work but it also meant my balance was totally off. I was stressed all the time, but that was just the level I ran on.
I am still me, all the qualities I describe above are me but I am softer now, as if the sharpness has been taken out of me. My edges have been rounded off. I can slow down and I know what I should put my energy towards. I have balance. It is all because of perspective. Because of Mackenzie. She showed me another side of life. She showed me what matters.
I have also now seen babies lying in hospital struggling to breath, I have seen children unable to move and I have seen families stripped of the life of a loved one. Before Mackenzie, I knew bad things happened in the world but now I have seen life’s immense cruelty but also the beauty of true love. I think this has made me so much more in tune with what matters. Everything I hear now, I hear differently. Everything I see now, I see differently. The world has changed colour.
When you are touched by tragedy, you seem to gain a new perspective. I now know what is important. Where my priorities lie are different now.
Life is important. Family is important. Love is important. Kindness is important. Surrounding yourself with good people is important.
Things that I used to be ‘overly passionate’ about are now in perspective. It doesn’t matter anymore. This doesn’t mean I don’t have passion for life, I just feel now that my passion is different. It is focused where it should be.
Traffic is bad? It doesn’t matter. Someone says something stupid? It doesn’t matter. Having a bad day at work? It doesn’t matter. At least not as much as we make out.
I am not done growing. In fact, I have a lot of growing yet to do. While I still have a lot to learn, I feel like I have been given a secret door, a short cut, to navigating the maze that is life.
I wish I had developed this perspective without having had to go through this. But I choose to see this as a gift that Mackenzie gave me. She made me a better person, she changed my life. To forget my new perspective, and not act on it, would feel like I was dishonouring her life.
You’ve bravely transferred your grief into creating a legacy for Mackenzie by trying help other parents avoid the same fate … please tell us about your mission?
When we learnt that SMA is the number one genetic killer in babies under two and it could have easily been detected in Jonny and I with a simple blood or saliva test … 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 go with your own happiness to stop a loved ones suffering.
So I wrote a letter, a letter which 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. Some members of Parliament went above and beyond like Barry O’Sullivan who did a speech about Mackenzie in the Senate or David Coleman who organised a meeting with NSW Health Minister, Brad Hazzard, who was very supportive to 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 and each time we got support for our campaign and promises he would look into what we were asking for.
“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.”
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. Then I began to write, I started writing on Instagram and then eventually started a blog to teach people about genetic disorders and genetic carrier testing.
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, it will also eventually make IVF more accessible for couples who carry the markers for genetic conditions.
It is everything we asked for. Our daughter.
What is your goal/vision?
Our goal is to eventually live in a world where couples know what genetic disorders they carry and the chances of them passing them on to their children. With this information parents and doctors can make informed decisions. Some disorders are manageable and with knowledge the parents can cater their lives, play and teachings to the child’s abilities, some disorders can be cured or treated at birth with a simple injection IF the doctors and parents know about these disorders in time. In some cases, the disorders are so life threatening, painful and cruel that a parent may decide they don’t want their child to go through that so they can look at alternatives such as IVF to make sure their child is not born with that disorder.
Our goal is knowledge. It is similar to the current testing done around chromosomal abnormalities like Down Syndrome (which is not a genetic disorder but a change in chromosomes). We currently test for chromosomal abnormalities but what you do with that information is up to you and your family. Ultimately our vision is to reduce the number of children currently struggling with life threatening and life limiting diseases that they didn’t ask for. We want to reduce the number of children in hospitals and hospices (I have visited children hospices and whilst they do a wonderful job it is devastating that they have to exist). We also want to reduce the number of parents who have to watch their child suffer.
After losing a child, do the days ever get easier or do you just get stronger over time?
Such a hard question to answer, maybe both? Although maybe easier isn’t the word, today isn’t easier than the day I lost her but it has become my new normal. I have learnt to keep breathing and keep putting one foot in front of the other. Everyone finds something to cling to, to help them through loss. I think for me I use my blog and our campaign as a way to keep her here, to still make sure every day my focus is her, like I am still being her Mum. Without these things I don’t know how I would be in all honesty.
I think this beautiful piece taken from a grieving Reddit user describes grief perfectly:
For grief, you’ll find it comes in waves. When the ship is first wrecked, you’re drowning, with wreckage all around you. Everything floating around you reminds you of the beauty and the magnificence of the ship that was, and is no more. And all you can do is float. You find some piece of the wreckage and you hang on for a while. Maybe it’s some physical thing. Maybe it’s a happy memory or a photograph. Maybe it’s a person who is also floating. For a while, all you can do is float. Stay alive.
In the beginning, the waves are 100 feet tall and crash over you without mercy. They come 10 seconds apart and don’t even give you time to catch your breath. All you can do is hang on and float. After a while, maybe weeks, maybe months, you’ll find the waves are still 100 feet tall, but they come further apart. When they come, they still crash all over you and wipe you out. But in between, you can breathe, you can function. You never know what’s going to trigger the grief. It might be a song, a picture, a street intersection, the smell of a cup of coffee. It can be just about anything…and the wave comes crashing. But in between waves, there is life.
Somewhere down the line, and it’s different for everybody, you find that the waves are only 80 feet tall. Or 50 feet tall. And while they still come, they come further apart. You can see them coming. An anniversary, a birthday, or Christmas. You can see it coming, for the most part, and prepare yourself. And when it washes over you, you know that somehow you will, again, come out the other side. Soaking wet, sputtering, still hanging on to some tiny piece of the wreckage, but you’ll come out.
The waves never stop coming, and somehow you don’t really want them to. My scars are a testament to the love that I have for that person. And if the scar is deep, so was the love.
What advice do you have for other parents or people who may know someone going through a similar experience?
To parents who are currently living with a child with a terminal illness I would say the best thing you can do is focus all your attention on making them smile, making them happy and making them comfortable. They are all that matters right now. Everything else can wait, use the time you have to make their world the shiniest place it can be.
Also ask for help, help from social workers, family, friends, Ronald MacDonald House and Starlight Foundation. It is ok to need help. Speak to your Doctor and get a mental health referral for subsidised psychologist appointments and don’t shy away from medication if you need it or it is recommended. I see so many parents struggling because of the stigma of psychological help and they shouldn’t. There is a time and a place for it – if you sprained your ankle you would use a crutch, right?
“I am still not done growing and learning from her even though she is gone. Mackenzie was a little person, who was here for a small amount of time but her effect is profound. Mackenzie’s existence is life changing and I know she has (and will) change the lives of others not just mine.”
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 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 ones name, the worst feeling is thinking they will be forgotten. Also acts of kindness mean so much, more than you could know in these times – drop off food, give their child a present, send a text message. Anything.
It became so clear to me that people didn’t know how to deal with grief, especially grief of a child. Most were ok, they fumbled or found a way to be there for us but I also had people pull away, walk away or run scared from me (literally). Because of this I wrote a blog post on grief. I hope it helps people.
You are currently undergoing IVF, how are you finding the journey?
IVF is tough. We are currently undergoing our third round of IVF to give Mackenzie siblings. We thought because we don’t have fertility issues (Mackenzie was conceived naturally) that we would do one round of IVF, we would get lots of beautiful embryos and that our problem would be is getting healthy embryos that aren’t affected by SMA. However, sadly it hasn’t been that easy.
The first round of IVF we get 11 eggs but by day five we had none that got to even be tested. The second round again we got 11 eggs but only two got to testing, one was unaffected and has been frozen ready to hopefully make a healthy baby. Now we are on our third round hoping to get more embryos so we can start trying to transfer them into me. It has been hard.
I personally don’t find the injections or hormones too bad it is the waiting and the mind game that is played after each collection. Every day more embryos drop off and every day you just wait for that call. It is brutal.
In a lot of ways IVF is harder given we are doing it while grieving Mackenzie but it would be so much harder for Jonny and I to do nothing. We are parents who don’t have a child to hold. Her siblings will never replace her but having their love will help our pain and give us a focus. I hope they have similarities to her.
“Today isn’t easier than the day I lost her but it has become my new normal. I have learnt to keep breathing and keep putting one foot in front of the other. Everyone finds something to cling to, to help them through loss. I Think for me I use my blog and our campaign as a way to keep her here, to still make sure every day my focus is her, like I am still being her mum. Without these things I don’t know how I would be in all honesty.”
What will you tell your future children about Mackenzie?
I want to tell them everything about her. I want to describe her smell, the feel of her hair and skin. I want to show them videos of her so they know how she moved and how she laughed. We are determined that she will remain a big presence in our lives every day. She is and will always be their big sister.
How can The Delivery community provide support?
I have found a wonderful community online, especially through my blog and Instagram. I am lucky to have people support my family, our cause and most importantly who want to acknowledge the life of our beautiful little girl. When I am asked what people can do to help there are some consistent things I ask for:
1. If you are planning on having children (whether your first, second, third or more) have the genetic carrier testing. This is where you can get it in Australia while Mackenzie’s Mission is set up.
2. Use any platform you have to spread Mackenzie’s story and the need for genetic carrier testing before pregnancy or in early pregnancy. Whether that is by word of mouth, telling family and friends, using Facebook, Instagram or whatever platform you have access to and are comfortable using. If you aren’t sure what to say please refer them to my genetic testing post
3. One of the main communities we need to reach are GPs and IVF clinics, sadly many don’t know about the availability and need of genetic testing. So next time you visit your GP ask them if they know about SMA or other recessive genetic disorders like cystic fibrosis, and genetic carrier testing. If they don’t know, please tell them about it.
4. Donate blood or plasma. In the final days of her life Mackenzie had blood transfusions, they didn’t save her but we are thankful they were on-hand to try. Now we try to encourage as many people as we can to donate blood or plasma. We have a red25blood group in Australia under ‘Mackenzie’s Mission’ so your donation can be directly attributed to her.
5. My families message is not about money or donations but if you would like to make a donation I can recommend some wonderful places who do exceptional work and that have touched our lives dramatically:
Sydney Children’s Hospital – In particular the Neuro Muscular Team led by Dr Michelle Farrar that specifically researches SMA.
The Royal Hospital for Women – They looked after us so well when Mackenzie was born and have continued to support us through losing Mackenzie. They have also helped us to raise the awareness of genetic testing.
The Starlight Foundation – They gave us the gift of a trip to Broome straight after Mackenzie was diagnosed. They gave us memories which we will treasure forever.
For more information on genetic testing, Mackenzie’s Story, Rachael’s genetic IVF journey and SMA please visit her blog, My Life of Love, or Instagram @mylifeof_love