'She was a gift': couple turn tragedy into extraordinary mission for genetic screening

Photo: Rachael and Jonny Casella with baby Mackenzie. Supplied.
Photo: Rachael and Jonny Casella with baby Mackenzie. Supplied. 

The first time I met Rachael and Jonny Casella was in early January this year. I was assigned to do a piece for Nine News about Mackenzie's Mission.

As I researched their story, tears streamed down my face. They had lost their precious daughter, Mackenzie, when she was just seven-months-old.

I couldn't help but think of my son, who was only a few months older than that. I desperately wanted to drive home, pick him up and never let him go. I tried to put myself in their shoes and I was overcome with emotion. Losing your child is the worst thing any parent could ever imagine. No one should have to go through what the Casellas have been through. Their story is absolutely heartbreaking, but everyone should hear it. 

Photo: "Our beautiful newborn baby. All I can see in this photo is love."
Photo: "Our beautiful newborn baby. All I can see in this photo is love." 

Before I walked into their house, I willed myself not to cry. They were the ones who had gone through unimaginable grief and pain. But when I saw them standing there and they welcomed us so warmly into their home which was filled with beautiful memories of their daughter, I couldn't hold the tears in. I felt embarrassed because that's not what journalists are supposed to do, and they were the ones who were hurting.

I apologised for getting upset but they were so kind and understanding. They said it actually means a lot to them when people care and show empathy. That's Rachael and Jonny for you. They have endured so much suffering but despite everything, they are just the nicest, kindest, warmest, most open and welcoming people. They speak so eloquently and beautifully about their gorgeous daughter, and they are incredibly strong. Hearing their story really impacted me and I asked if we could stay in touch. Some people who you meet change your life and your way of thinking forever. I feel so honoured to know them.

Rachael has just released a book called 'Mackenzie's Mission.' It's their story of how they've turned tragedy and pain into hope and love and something so special. What they are doing will change the world and many lives for the better. If you are a parent or are planning a family, I implore you to read this book. It will also help anyone who is going through grief or needs to support someone who is. And if you have suffered a miscarriage or are undergoing IVF – this book will really strike a chord.

My words could never do Rachael's justice but here is just some of their journey.

 
 
 
 
 
 
 
 
 
 
 
 
 

#mackenziesmemories

A post shared by Rachael Casella (@mylifeof_love) on

On the 11th of March 2017 Rachael and Jonny welcomed their daughter Mackenzie into the world. "She was the most beautiful little girl. I know that all parents are biased and they say that but she just had these giant blue eyes and this huge smile," Rachael tells me.

Advertisement

Ten weeks later Rachael took Mackenzie to a lactation consultant who noticed something wasn't quite right. Within days, Mackenzie was diagnosed with a rare genetic muscle wasting disease known as Spinal Muscular Atrophy or SMA. It is the childhood version of Motor Neuron Disease.

For the Casellas, it was life shattering. "Our world crumbled around us. We went from having a healthy baby girl and within two days we were told she was terminal," says Rachael. 

Over the next five months, Rachael and Jonny dedicated their lives to creating beautiful memories with their precious daughter. They took her on adventures around Australia and spent some very special times at home. On the 11th of every month, they would celebrate her month day knowing she probably wouldn't see her first birthday. Mackenzie's body was failing her.

Photo: "Watching Mackenzie catch snowflakes on her tongue is one of our favourite memories." Supplied
Photo: "Watching Mackenzie catch snowflakes on her tongue is one of our favourite memories." Supplied 

Rachael explains: "It was like seeing her tied to a railroad track and I could see a train coming but I couldn't stop it. As a parent, that's impossible." 

On the 22nd of October 2017, Mackenzie passed away as she lay in a hospital bed between her mum and dad . "We watched her take her last breath. And her chest never rose again," Rachael says. "We made the decision to walk her down to the morgue because we didn't want anyone else to do that. And to walk away with empty arms, it's just a nightmare. And every day I'm still not sure that it really happened."

Somehow, through all the grief and pain, Rachael and Jonny found the strength to keep going. Rachael tells me: "You don't disappear or disintegrate which is what we thought would happen to us. You couldn't even possibly imagine how you could live without your child, but you just do. And after a while, you realise rather than just existing, you want to actually do something more with her memory because we felt like she was worth it, that she deserved it."

Photo: "A sneaky photo Jonny took of me in my happy place with Mackenzie"
Photo: "A sneaky photo Jonny took of me in my happy place with Mackenzie"  Photo: Supplied

Until Mackenzie's diagnosis, Rachael and Jonny had absolutely no idea that they are both carriers of SMA. They didn't have any family history of the disease. Before falling pregnant and during the pregnancy, the couple had taken every test that was made available to them including the Non-Invasive Prenatal Test (NIPT). 

The Casellas wanted to make sure that no other couple would have to go through the pain they've had to endure. For the past two and a half years they've been tirelessly campaigning for genetic carrier testing to be offered routinely and for free to all prospective parents. It's their daughter's legacy.

Now the $20 million trial for Mackenzie's Mission has officially been launched and 10,000 Australian couples will be tested. They'll be screened for more than 700 genetic conditions like Spinal Muscular Atrophy and Cystic Fibrosis. If both parents are carriers for a disease, they have a one in four chance of passing it on to their child.

Photo: Mackenzie in hospital, just three days before she died
Photo: Mackenzie in hospital, just three days before she died 

"Every single one of us carries at least three to five genetic conditions in our DNA. We all carry defects. Whether we pass them onto our children all comes down to the luck of who we happen to have a child with and what it is that they carry," says Rachael. "Knowledge is power. It's just about having that knowledge and making choices."

Rachael and Jonny long to give Mackenzie a sibling. Right now, they are on their ninth round of IVF. They have lost two more children, Bella and Leo, during pregnancy.

"We thought when you lose your child, that's it, right? Karma leaves you alone for the rest of your life surely. We were really naive. We didn't think that two years on we'd still be trying. We certainly didn't think that we'd have lost another two children," Rachael explains. But the couple remains hopeful.

Photo: "Jonny and me during one of our rounds of IVF." Supplied.
Photo: "Jonny and me during one of our rounds of IVF." Supplied. 

"We've had this beautiful little girl. We know what it's like to be parents. We're never going to give up on our dream because the reward is so much more than the pain of the journey," she tells me.

While Mackenzie's Mission is their daughter's legacy, the Casellas also remember her in so many other ways. They always have a candle lit for their little girl and sing to her constantly. They want all the celebrations of their daughter to be linked to kindness. On big occasions, they donate blood. They also donate food and gifts to Ronald McDonald House. Rachael says: "When people think of her, I don't want them to think of a sick, sad baby. I want them to think of this little, sparkling ray of sunshine who just spreads kindness wherever her name goes."

Rachael started writing because she wanted to capture memories and thoughts about her daughter. Over time, those words turned into a book and grew to cover genetics, how to deal with grief, IVF, miscarriages and terminations for medical reasons.

"I feel really honoured that the book's out there and I hope that people read it and are not scared of it because the feedback that I've got is that people actually walk away from the book feeling really hopeful and really positive," Rachael says. "It's not just a sad story."

Tears again began streaming down my face as I read the first page of Rachael's beautiful book and there are many times throughout out it that you will cry. But like me, you will gain a new perspective on life. You will learn what is important and what really matters. You will be inspired by the people Rachael and Jonny are and what they have achieved.

They are so in love and such a strong, special couple. Their kindness is palpable. They have a deep and incredible love for their daughter, Mackenzie. That love continues to drive them to make this world a better place.

When you're done reading, you will feel hope. And when you think of Mackenzie, you will think of beauty, sweetness, innocence and light.

"We called her our shooting star because we said that she shone really bright but really fast," Rachael tells me. "She was a gift and everything that's come from her is a gift." 

Mackenzie's Mission by Rachael Casella, RRP $29.99 is available online at mylifeoflove.com. Find out more at Mackenzie's Mission and follow Rachel on Instagram.

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

A post shared by Rachael Casella (@mylifeof_love) on