Couples' heartbreaking IVF journey after losing baby girl
IMAGINE being told your beautiful, seemingly healthy, 10-week-old daughter has a devastating neuromuscular disorder.
Imagine learning it is extreme, rapid and terminal - that you'll lose her in a matter of months and there is nothing you or anyone else can do. There is no cure for Spinal Muscular Atrophy, only treatments that may delay the inevitable.
Imagine trying to create a lifetime of memories with her in a matter of months. From putting her feet in dinosaur footprints to snowflakes on her tongue.
Then imagine holding her in your arms as a doctor searches for a heartbeat only for him to turn and say, "I'm sorry, she is gone."
Imagine having only seven months and 11 days with your only child.
You can't? Neither can I.
Neither did Mackenzie's heartbroken parents, Rachael and Jonathan Casella.
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Last Wednesday our beautiful daughter Mackenzie suddenly fell ill. For four days she fought like a warrior. Yesterday Mackenzie passed away peacefully laying between us surrounded by love and her favorite music. Our baby girl is gone. Our world has lost its brightness and colour. Instead our shooting star will be now and forever lighting up the sky. We are lost without you. Our world has no direction. We love you. We miss you. Thank you. #mackenziesmemories #changeformackenzie
When planning their pregnancy with Mackenzie, Rachael said they did everything to make sure they gave themselves every chance to have a healthy baby.
Well, they thought they did everything.
"We had fertility testing, we saw a Chinese herbalist, I had the usual pre-pregnancy blood test and pap smears, we went to the dentist, I took pre-pregnancy vitamins, we had all our scans and screenings and what we thought was 'genetic testing'," Rachael said.
The Casellas had The Harmony test, a non-invasive prenatal test that looks for chromosome abnormalities such as Down Syndrome.
"It is not a routine test but we thought we would be safe and do it anyway.
"It costs around $400 from memory and for us it came back clear. We felt safe and reassured. But it is not a genetic test.
"Genetics and chromosomes are different things.
"We thought we were having every test you could have or, at least, every test we were told about. We were wrong...we weren't having one of the most important tests we needed to have, which is genetic testing to find out if we, as parents, are carriers of any recessive genetic disorders."
From the moment Mackenzie was diagnosed with SMA, Rachael and Jonathan started campaigning to change the way Australia deals with genetic disorders.
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On 11/03/2017 my husband and I had the happiest day of our life with the birth of our beautiful baby girl Mackenzie. She is perfection. Happy, bubbly and gorgeous. We had ten blissful weeks with her before our world was destroyed. At ten weeks old our baby girl was diagnosed with Spinal Muscular Atrophy (SMA) type one. SMA is a neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting, often leading to death. In Mackenzie's case we have been told it to be extreme, rapid and terminal. We are now going to have to watch our baby slowly loose muscle, movement, the ability to feed, to swallow and finally to breath. The average age babies with SMA type one live to is nine months with a maximum of two years. We are broken by our new reality. We can not speak let alone breath. The shock is enormous. Our happiness is being taken from us. Our future is now to arrange the best palliative care for Mackenzie. All we can do is make sure she smiles as much as possible through dancing, music, games, love and cuddles for as long as we can. We had never heard of SMA. Neither had our family or friends; however, we soon learnt it is the number ONE killer of babies under two. How then can no one have heard of this disorder? One in thirty five people are carriers of SMA. If two carriers have a baby there is a one in four chance of the baby having SMA! We have since learnt that a person can find out if they are a carrier through a simple blood test during pre-pregnancy screening. This blood test should be offered to all those undertaking pre-pregnancy screening. People should know about this test. Whilst we can not screen for all genetic disorders surely we should check for the number one killer of babies? We are also lucky in that our friends and family have joined forces to look after us and raise money for us in a Go Fund Me page https://www.gofundme.com/making-memories-mackenzie-casella This leaves us free to focus on Mackenzie. Finally it also allows us to do something important with this information we have been given. Please help raise awareness of SMA by sharing this information. Make Mackenzie's life have purpose. #mackenziesmemories
They started with sharing their heartbreaking story with a journalist. Me.
"You were the first journalist to contact us," Rachael said.
"We didn't quite know what was coming at us so we took every opportunity.
"We knew Mackenzie was going to lose her life for a message that needs to be out there. We didn't want her to not be remembered."
Our story on Mackenzie was just the first of many. Her beautiful face graced media nationwide. And awareness of SMA spread.
Next the Casellas wrote a letter to Parliament, introducing Mackenzie, telling their story and outlining what they thought Australia could do, particularly in the space of genetic carrier testing.
"I wanted to send it to the PM but my parents, who were high up in the public service during their careers said, 'let's send it to every member of parliament'.
"So we did. All 275 members received a hand addressed letter with our favourite photo of Mackenzie tucked inside."
Over the next couple of months, Rachael and Jonathan spent every waking moment with Mackenzie making memories, but when she was asleep they would push their campaign.
Less than a year after they started campaigning, the Australian Government gave the Casellas "everything we asked for and more".
Then Treasurer Scott Morrison announced in the 2018-2019 Budget, $500 million for the Australian Genomics Health Futures Mission with $20m of that for Mackenzie's Mission, a pilot program for genetic carrier screening.
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Sitting at the doctor's office and of course the only other people in here are a couple with their new born baby. . They are taking photos of their babies first doctor's appointment. They are so happy. They look so in love. . I smile at them because I know the love, I know that happiness. . I wish there wasn't deep pain behind my smile. I know their happiness doesn't affect mine but I am jealous, can't help it. . #mackenziesmission #somanyfirsts #happyforthem #jealous #babieseverywherethereisnoescape #missyou
"This pilot study is an Australian trial looking at pre-conception genetic carrier testing which looks to see if parents unknowingly carry a genetic disorder they can pass on to their child. Mackenzie's Mission will screen for rare and debilitating genetic conditions including Spinal Muscular Atrophy, Fragile X and cystic fibrosis," Rachael said.
Over the next two to three years Mackenzie's Mission will test 10,000 couples, before pregnancy or in the first trimester.
"Previously the stance in Australia was prospective parents were encouraged to be tested for genetic disorders but only if they have a family history or cultural background.
"But four out of five children born with a genetic disorder don't have a previous history. Going by family history is so dangerous and flawed."
Rachael said they want genetic disorders testing to be offered everyone, and the experts do too.
"The Royal Australian and New Zealand College of Obstetricians and Gynaecologists have now turned around and said all women should be offered or made aware of genetic disorders testing.
"Every single couple should be told about and offered genetic carrier testing before having children. They should be given all the information and be let to make the decision whether it is right for them.
"Genetic carrier testing has been available to Australians for quite some time now, but the tests are not very well known by people, including medical professionals plus the tests currently cost money but with Mackenzie's Mission genetic carrier testing will be made more available and will be free, providing equitable access."
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Well 2017 where do I begin with you? You gave me the happiest moments in my life and you gave me my nightmares. You kept kicking me but then you surrounded me with people who lifted me up. . . You also gave me my biggest strength - my Mackenzie. She gives me purpose, love and makes me a better woman. 2017 you made me a mother. I could focus on the negatives and you know what some days I do but I chose love, I chose strength, I chose to use this time to tell Mackenzie’s story - to yell her name. . . 2017 you gave me friends I didn’t know I had, yes a couple of people pulled back but I chose the focus on the ones who stepped forward. . . 2017 you showed me the strength and love we have in our families. They rallied around us, cried with us, helped us create memories with Mackenzie and most importantly they loved our little girl with all that they have. . . 2017, thank you for the opportunities we have been given. The chances we have been given to tell Mackenzie’s story do not go unnoticed or unappreciated. . . Most importantly 2017 thank you for bringing Jonny and I even closer. You could have broken us. Other couples may have fallen under the pressure but we are stronger than ever, more in love than ever. He is my unicorn and I feel lucky to have him every day. The joy he gave Mackenzie was second to none. An amazing husband and an even better Dad. I love you my prince. . . Thank you to every person who took the time to message me, read my blog, who reached out to let me know my pain was being heard. You will never know how much you lifted me. You are wonderful. Be proud of the person you are, because kindness can heal so many wounds. It’s power is great. . . In some ways I am not ready to say goodbye to 2017 and in some ways I want it to be over. 2018 I am curious to see what you have install for us. Please be kind xx . . #mackenziesmemories #newyear #reflection #imissyoubabygirl #thankyouforthekindness image: @deartomyartcreations
After the pilot program in three years' time, Rachael said they hope Mackenzie's Test will be released Australia wide to any parent that wants it.
"Most tests now test for three up to 175 genetic disorders. Mackenzie's Mission will test for over 500 genetic disorders.
"The fact Mackenzie's Mission is going to test for 500 disorders is enormous. There are thousands of genetic disorders out there but our aim isn't to identify all possible genetic disorders but instead we are focused on identify those that are severe, life threatening or those that have a treatment, allowing for early intervention and the potential to save lives.
"If identified as being high risk at passing on a genetic disorder to your child, parents can arm themselves with information. They can either go down the path of IVF, get pregnant naturally and test the baby to ensure their health or for conditions that have a treatment, provide early intervention".
In her short - too short - life, Mackenzie managed to create a legacy that will potentially change thousands of lives.
"She managed to create a legacy that will live on, and we are so very proud of her," Rachael said.
Making memories with Mackenzie
While this achievement brings some solace to her parents that Mackenzie's short life has had purpose, they're also grateful for the memories they got to make with her before she passed away.
"I can remember the time we were sitting in a tent, we were 'glamping' in Broome, Mackenzie was lying naked between us on the bed with the warm air on her. This meant so much because it was winter in Sydney and we didn't know if she would feel something as simple as the sun on her skin before she died.
"We took her to the snow and when we got out of the car and she was looking at the sky and she poked out her tongue and caught a snow flake," Rachael said.
Mackenzie went all over Australia from Perth to Broome to Cape Tribulation to Cairns to Tasmania. She went yachting, in a helicopter and on a hover craft.
"We couldn't take her overseas because you can't get travel insurance for a terminally ill baby so every couple of weeks we'd go somewhere."
A friend of the Casella's set up a Go Fund Me page - Making Memories with Mackenzie. Nearly $60,000 was donated.
"Because of that Go Fund Me and people's generosity we got to travel around for six months and make those memories with her. We wouldn't have been able to do that without the generosity of all the people."
Rachael said she has panic attacks thinking about the last few days of Mackenzie's life. Having these memories to focus on is a huge help.
Making siblings for Mackenzie
And while the couple live with the incomprehensible grief of losing a child, they are also going through another battle - one to give Mackenzie siblings.
"We started IVF when Mackenzie was still alive because we hoped she would get to meet a sibling.
"But we've done five rounds of IVF now and we're still no closer."
The couple have chosen to go through IVF so the embryos can be tested for SMA before being transferred.
"We could get pregnant naturally and have another baby with SMA but having seen Mackenzie's last through days in life we would never put another child through that.
"I would live every single of Mackenzie's seven months and 11 days but I wouldn't make her live through those last four/five days in hospital again.
"That's why we won't have another child with SMA.
"We have a test that has been designed for us using our blood. It costs a couple of thousand dollars to develop the test but they can check if an embryo has SMA or is a carrier."
To do the test, the embryos have to reach six days post fertilisation when they start to "hatch".
"When it starts to hatch it exposes the cells and they can take those and test," Rachael said.
Out of five IVF cycles and approximately 60 eggs, 25 embryos reached day three but only four made it to day six hatching to be tested.
"Of those four, one had SMA, one had a chromosome abnormality, one had SMA and chromosome and one was a SMA carrier.
"We're a bit lost because we have this one healthy embryo but the transfer rate is 50 per cent. I've just turned 35 and have a low egg reserve.
"I'm nervous because best case scenario we transfer the embryo and it will stick but in a couple of years if we try again, I might not get any eggs."
This means mean another round of IVF at $10,000. Plus an additional $900 for each embryo tested for SMA.
While the couple would also like the Government to subsidise IVF and pre-implantation genetic diagnosis (PGD) for prospective parents who needed it for medical reasons, like themselves, until then they will need $15,000 to continue their journey to get the future children they so desperately want and need.
And reluctantly, they have started a second Go Fund Me page to do so - purely because they were inundated by people asking them to so they can donate.
In the last three months more than 140 people have donated nearly $9000.
"This second Go Fund Me makes us incredibly uncomfortable. We feel odd that we're the luckiest couple in the world but also the unluckiest," Rachael said.
After losing Mackenzie quite suddenly on October 22 last year, Rachael went back to full time work just eight weeks later.
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Hi beautiful people. How are you all? I hope you are all well and happy. You deserve to be - you are all so good to my family. . Today I posted my latest blog which is about our third round of IVF. That round feels like years ago. . I keep writing about each specific round because in some ways they are very different, they hit us in different ways but also because I feel strongly that IVF should have a higher profile in our society. It is currently such a very secretive world. . The other huge reason why I write about each IVF round is because this blog started out as a journal for me to use, to express myself safely which is what I want to continue doing. . Link in bio. . #mackenziesmission #ivfjourney #ivf #pgd #blog #lovemyinstagramfamily #missmybaby
"We had to pay for her funeral and then we were doing IVF and having to balance needing to go away because at home we're surrounded by her things."
Recently, the couple and their family had a weekend to celebrate Mackenzie.
"Having to live with the grief of losing Mackenzie - I can't even put that into words. My world is full of landmines I'm constantly having to negotiate," Rachael said.
As the Casellas prepared for one year without their beloved daughter, they discovered they were pregnant. Sadly, it wasn't to be.
"For six days we got positive pregnancy tests which was nice. I know we would have done the SMA testing at three months and that could have changed things but we thought it was poetic that we got pregnant a year after she died.
"But then three days before the anniversary we had a blood test and we weren't pregnant. It was a chemical pregnancy."
But despite everything she has gone through in the past year - five rounds of IVF, losing her daughter, a chemical pregnancy - Rachael is incredibly stoic.
"Sometimes we ask why did this happen to us? Why didn't Mackenzie get the chance to live because she was incredible.
"But then sometimes we look at each other and we're the luckiest people in the world to be her parent's, we honestly believe it is something about her, we're proud to be her parents.
"I have the perspective that everything we've been through has made me a better person. I wouldn't wish the last year and half on anyone but I would wish our perspective on everyone."
If you would like to donate to the Casellas' Making Mackenzie's Siblings, you can do so here.