Mackenzie Casella would be three years old now and her mother, Rachael, can still picture her beautiful big blue eyes. The pain of losing a child is enduring, but Rachael is bravely transferring her grief into creating a legacy for her baby girl … in the hope she can save other parents from the heartbreak caused by genetic diseases.
We spoke to you just over 2 years ago and your grief was still quite raw … does time heal like they say?
In some ways time does heal but it can also bring more pain. As you said, initially when we first spoke to you, the pain was so raw. At the time we still could not quite comprehend what was happening. Every day felt long and empty because we felt that huge hole in our lives which should have been filled with entertaining, loving and looking after a little baby. Back then I could not look at a photo of her without crying.
Two years later, not only do we feel our grief, which has changed, but now we know our loss is real. Time passing has made it clear to us that she is not coming back. We no longer cry every day or whenever we see photos of her, instead we are hit with these intense moments of pain at random times that we cannot anticipate. Enough time has now passed that we have gone back to living our life – we have had to. We work, do our chores, see friends, our new routine is now set and sadly it doesn’t revolve around a baby. But we still try to incorporate Mackenzie into our lives as much as we can. We have morning and night-time routines where we take the time to talk to her. We have a digital photo frame in our living room that allows us to cycle through different memories. Little rituals that help us to remember her. Time has allowed us to stop constantly asking ‘why us’ and instead now we can see that the time we had with her was a gift.
Yes, in some ways time does heal but the pain is still there just as strong because it has been so long since we have held her. Now she feels so far away..
How old would Mackenzie be now … and how do you mark her birthdays?
Mackenzie would be three years old now. I can picture her in my mind. She always had the most beautiful big blue eyes and at three years old I still think they would be the first thing people would notice. I would have cut her a little fringe and her hair would most likely be up in a little bun. She would be an inquisitive little girl always asking questions which is common for a three-year-old. Even at 7 and a half months she was always curious about the world around her. She would be the sweetest little girl and probably a little bossy.
We have celebrated every birthday that has passed since we lost her. On what would have been her first birthday we had a large party with all of our family visiting from Canberra as well as my best friend Kath and her family. We set it up under a beautiful tall old tree in Centennial Park near where we had her farewell party. We had a giant chocolate cake, blew her bubbles into the sky for her to play with and decorated the party with unicorns and balloons. We hoped that it was everything a little girl would have wanted for her birthday.
Her second birthday and third birthdays have been smaller. Jonny and I have now started traditions for her birthdays and the anniversary of her death. We made a list of kind acts we wanted to do in her name because we want people to think of kindness when they think of her, not just sadness. So every year we start the day by dropping off gifts and food to Ronald McDonald House in Randwick. We donate blood or plasma under the red25blood group we created for her. We usually plant some trees or pot plants so we can see something grow for her. We blow some bubbles for her at a location that has a special meaning or memories for us, and have cupcakes with candles. A day full of kindness and love to celebrate.
“I could not comprehend how I was supposed to keep breathing. I felt that the moment she left us I would disintegrate, and the wind would blow me away.”
Your baby girl’s legacy lives on in Mackenzie’s Mission … what’s your proudest achievement so far?
If you ask any Mum about her proudest achievement, and she will tell you that it is her children. My proudest achievement is the fact that Mackenzie chose me to be her Mum. I truly believe that she did choose me. She wanted me and I wanted her. Outside of that, my proudest achievement is, without a doubt, the Mackenzie’s Mission pilot program for genetic carrier screening which we feel is our daughter’s legacy. Eventually, all Australians will be offered a simple free test (genetic carrier screening test) that, if they agree to it, will tell them is they have a risk of having a child born with a severe genetic condition, particularly terminal conditions like Spinal Muscular Atrophy (SMA) like what Mackenzie had. I believe that there will be fewer children born with lethal genetic conditions, and this will lead to healthier children, less pain and heartache for families, and ultimately a reduction in the number of children in hospitals. This is all because of our little girl. Most people cannot create that sort of change in a lifetime and it only took her 7 months.
You’ve just released your book “Mackenzie’s Mission: How one mother turned tragedy into love and hope” … how did you find a purpose in all the pain?
Initially when Mackenzie was diagnosed, I couldn’t sleep, didn’t want to eat and often it felt like I could barely breathe. I just sat on the couch cuddling Mackenzie hoping the power of my love would take away her illness. Whilst I try to project strength through campaigning for change, I do allow myself to wallow in my pain on some days, I am not immune to asking ‘why us?’, ‘what did we do to deserve this?’ I have cried more than I thought was possible but once I learned more about genetics and genetic illnesses, and what could have been done we knew that there had to be an outcome of our journey that wasn’t just all about our pain and grief. We had to have something positive come from her life and death. Mackenzie deserved to be more than just a sad story.
Personally though, I also realised that I couldn’t let her death mean the end of my happiness. I could wander through life damaged and broken, and everyone would have understood that reaction. However, I realised that Mackenzie’s death wasn’t the world punishing us, rather her life was the universe giving us a gift. Mackenzie added positives to my life in so many ways, more ways than I can count. We have had so many gifts from having her in our lives that I choose to believe that her life allowed me to grow my own life in a far more profound way than could ever have been without her. I am better for having known her. My family is better for having known her and Australia and the world is a better place for her having been here.
I encourage people to not be afraid to be around those who are grieving or to read about the lives of people who have experienced pain because it can teach so much and enhance your own life. I often think of this quote:
I feel like our life used to be in black and white, but she turned it into colour. Knowing her made my life better and through our book I have tried to share that with others.
Have you uncovered any more information about genetic diseases?
Yes, genetics is a fascinating world and something that influences our everyday lives without us even realising it. Genetics can literally change our lives.
Humans are made up of chromosomes, so imagine those chromosomes are encyclopaedias. To get a whole set of encyclopaedias we need to get 23 chromosomes from each parent when we are born, making 46 in total. Sometimes people are born with too many or two few encyclopaedias which leads to chromosome conditions such as Down Syndrome. These conditions can be picked up during a pregnancy with either a nuchal translucency test or a non-invasive prenatal test. Whilst these tests are described as being genetic tests, they only look at chromosomes, not genes. Inside the chromosome are our genes. Picture opening up those encyclopaedias and the writing you see inside are your genes.
As with chromosomes, we receive one copy of each gene from each parent. Most of the genes we inherit are healthy, normal, but sadly some of the genes that we inherit have faults in them. In fact, every one of us carries, on average, three to five faulty genes that can lead to genetic conditions – all of us. However, when one of the genes inherited from one parent is faulty, usually the gene inherited from the other parent is healthy and this is enough so that the individual will not be affected by a genetic illness.
If both parents pass on a faulty copy of the same gene this means there is no healthy gene to take over the work and the child is affected by that genetic condition. There are thousands of genetic conditions but examples are cystic fibrosis, Fragile X or SMA. When we say ‘affected by the conditions’ it means they exhibit symptoms of that particular genetic condition. Whilst each type of genetic condition is often rare, when these are added together the incidence of genetic diseases like these becomes far more common. According to the Jeans for Genes website, one in twenty children is born with a genetic condition or a birth defect. This is something we should all care about but the good news is there is something we can do to help us have healthy children.
When you are planning to have children or in the first trimester of pregnancy the parents can have a genetic carrier test to show them what, if any, genetic faults they carry and if together there is a risk that they’ll have a child who is affected by a genetic condition, particularly lethal conditions. Unfortunately, the test currently costs money, but it is worth the money. This test used to be offered only to people who had a family history, but four out of five children born with a genetic condition have no family history so that approach is dangerous and misguided, I think. I want this to be a choice that people can make for themselves.
This is where Mackenzie’s Mission comes in. Our daughter’s legacy is all about how we can bring this genetic carrier testing to Australia as a free test for all who want it.
“One in twenty children is born with a genetic condition or a birth defect. This is something we should all care about but the good news is there is something we can do to help us have healthy children.”
What advice do you have for other parents who have lost a child?
Losing a child is the worst thing that could happen to a parent. It is every parent’s worst nightmare. When Mackenzie died, I could not comprehend how I was supposed to keep breathing. I felt that the moment she left us I would disintegrate, and the wind would blow me away. But that doesn’t happen. Every day you wake up, the sun rises and sets, you keep living, and breathing even in the moments you want them to stop.
No two people will grieve the same and I now know there is no ‘right’ way to grieve. How you feel changes every day and there is no timeframe on your grief despite that fact that some people around you may push for you to be ‘normal’ again. I find my grief comes in waves, originally the waves came hard and fast with little relief in between each wave and that would push me under making me struggle to breathe. Eventually it feels like there are breaks in between the waves where you can breathe but they come along again, sometimes with no warning, to smash you down.
Things do get better, but it takes hard work. For us, it has taken a lot of therapy, a lot of reading about grief, talking about our feelings with each other and being honest with ourselves about what we needed from day to day. Our friendships changed around us; some people walked away but we had more people step towards us. Life certainly is different but as long as we focus on the gifts our little girl brought our lives then the waves of grief can’t pull us under.
Where are you at on your fertility journey?
Sadly, our journey to have more children has been difficult. We have now had nine stimulation rounds of IVF, leading to eight egg collections as one round was cancelled due to the fact that I developed deep vein thrombosis in my pelvis.
We got pregnant naturally in October 2018 with a beautiful little girl we called Bella but we did a CVS test at twelve weeks to check if she was healthy. The test came back with our worst fears, like Mackenzie, Bella had SMA. We had to make the devastating decision to medically interrupt that pregnancy.
We got pregnant again in November 2019 with a baby boy we called Leo. He was a genetically tested IVF embryo, and the testing showed that he didn’t have SMA or any chromosome conditions but the test is only 95% accurate. We wanted to be sure that Leo was healthy so once again we had a CVS, which showed that we had fallen into the small percentage of testing that was inaccurate. Leo had a serious chromosome condition and, once again, we had a termination for medical reasons. This is not what we expected from IVF, and we have had to make decisions we never thought we would be faced with. It feels like we’ve had such a struggle. Our luck was unheard of…
Our latest round of IVF was completed a week ago, we got two embryos strong enough to be genetically tested. We are currently waiting for the results. In the meantime, I am recovering from a laparoscopy to remove endometriosis.
This journey is long and hard, but we will be parents once again. We have hope and will never give up.
What’s next for Mackenzie’s Mission?
We are so excited that Mackenzie’s Mission, the genetic carrier screening pilot program, is now up and running. I sit on four of the committees for Mackenzie’s Mission and being so closely involved fills me with such pride. I feel as though I’m doing this on behalf of Mackenzie and all the other babies like her. However, there is more to do. We need to be in the position that in two years’ time, when the pilot concludes, that the test becomes routinely offered and free test for all Australians who want it.
My biggest hope is that the other countries, that I know are watching Mackenzie’s Mission, take it on board too. I would love to see Mackenzie’s Mission offered worldwide, although I know it will be known by other names. In ten years’ time, I would love to see fewer children in hospital due to genetic conditions around the world. That is the dream.
I am also now using our experience with Mackenzie, Bella, Leo, child loss, genetics and IVF to educate others, this includes our book also called Mackenzie’s Mission, my blog www.mylifeoflove.com and Instagram @mylifeof_love but also through work I am doing with support groups such as Pink Elephant Support Network. I hope our story, especially our book, will become a resource for people. I want to help people who are going through a similar situation of loss of a child or IVF not to feel so alone and also to help educate those who may know someone who is experiencing these struggles so that they are in a better position to help others through it. I want to show others the power of kindness and what it can do.
Personally, our own mission for ourselves, is to be happy and to simply just have a family.
Author: Rachael CASELLA
Book: Mackenzie’s Mission (Allen and Unwin)