First-time mother shares anguish of final months spent with baby girl

When Rachael Casella gave birth to her daughter last March, she imagined she would have an entire lifetime to explore the world with her baby girl.

But tragically, Rachael and her partner, Jonathan’s, dreams were cut short when baby Mackenzie was diagnosed with Spinal Muscular Atrophy (SMA) Type 1; a devastating terminal neuromuscular disorder, at just ten weeks old.

This meant that the young parents from Sydney only had a matter of weeks or months left with their little girl.

Rachael and Jonathan said goodbye to baby Mackenzie in October, at seven months old – but not before they made a series of memories, celebrating each and every one of her seven ‘monthdays’ in different locations around Australia.

Since then, they have worked tirelessly to raise awareness of SMA and to spare other families from the agony they have endured.

Rachael shared the anguish of the parents’ final weeks and months with Mackenzie, as well as their hope to have a little brother or sister for her.

 

Rachael and Jonathan Casella gave birth to baby Mackenzie (all pictured) and enjoyed ten blissful weeks together before their baby daughter was diagnosed with SMA

The police officers (pictured) with Mackenzie decided to take time off work to enjoy whatever time with Mackenzie that they might have left – visiting the snow where their daughter ‘caught snowflakes with her tongue’

Rachael shared the anguish of the parents’ final weeks and months with Mackenzie (pictured), as well as their hope to have a little brother or sister for her – Mackenzie passed away when she was just seven months old

‘She had these big blue eyes and such a lovely personality,’ Rachael told Daily Mail Australia of her daughter’s (pictured) personality

Rachael and her partner, Jonathan, had both worked as Australian Federal Police officers before she gave birth to Mackenzie.

And when Rachael did have her little girl, she said she thought she was ‘perfect’.

‘She had these big blue eyes and such a lovely personality,’ Rachael told Daily Mail Australia. 

 She had these big blue eyes and such a lovely personality

The new parents said they didn’t think anything of Mackenzie’s ‘relaxed and chilled out’ personality when they got her home, with Rachael adding with the tragic benefits of hindsight: ‘We didn’t know she was supposed to be moving more’. 

However, when Mackenzie started ‘pulling off a little’ while Rachael was breastfeeding her at ten weeks, the 34-year-old decided to take her to a lactation consultant:

Two days later – at the earliest doctor’s appointment the new parents could get – Rachael and Jonathan were told the fateful news. 

Mackenzie had Spinal Muscular Atrophy (SMA) Type 1.

SMA is a genetic muscle-wasting disease, and the number one genetic killer of babies under two. 

After finding out the news, the parents (pictured) quickly got her an emergency passport and they decided to celebrate every ‘monthday’ milestone for Mackenzie with a trip

Each month, they would travel to somewhere like Broome, Tasmania, Perisher or Cairns, before trying to live as normal a life as possible for the rest of the month

The proud parents also took Mackenzie to Broome where she had her first and only trip in a helicopter – which she found somewhat confusing

‘We travelled to the snow and we have beautiful memories of her standing in amazement at the snow in Perisher,’ Rachael said (all pictured in Perisher)

At that point, the police officers knew they wanted to take time off work and make as many memories as possible with their daughter.

WHAT IS SMA? 

* Spinal Muscular Atrophy is a rare inherited genetic muscle wasting disease that is characterised by a loss of nerve cells called motor neurons.

* The affected muscles not only include the muscles you see like your arms and legs, but all your internal muscles like breathing, coughing and swallowing.

* The loss of motor neurons leads to the progressive muscle weakness and wasting. 

* Spinal Muscular Atrophy is passed on by what is known as autosomal recessive inheritance and for an individual to be affected with SMA; they need to have inherited an altered gene from their parents.

* One person in thirty-five unknowingly carries this gene. 

Source: SMA Australia. 

They quickly got her an emergency passport and decided to celebrate every ‘monthday’ milestone for Mackenzie with a trip:

‘Each month would follow a similar cycle,’ Rachael recalled.

‘We would have an appointment with her neurologist to see how she was doing, and then we’d go on a trip somewhere for a week, before coming back to Sydney to try and live as normal a life as possible for the rest of the month.’

At different points, the family of three visited Broome in Western Australia, Perisher, Tasmania, Cairns and Perth.

‘We travelled to the snow and we have beautiful memories of her standing in amazement at the snow in Perisher,’ Rachael said.

‘She saw the snow and caught snowflakes with her tongue. It was so cute, she was trying to figure out what it was.’

The proud parents also took Mackenzie to Broome where she had her first and only trip in a helicopter:

‘She was so funny in the helicopter. I had her strapped to me and I just remember she looked so confused,’ Rachael said. 

The parents also set up a ‘sensorium’ at home in Mackenzie’s bedroom. Because she didn’t have the movement of other babies, they prioritised sense, touch and smell

They often played her favourite song, Britney Spears’s Hit Me Baby One More Time, to help her to stop crying

When Mackenzie slept, her parents tirelessly campaigned to raise awareness of SMA on a national level

The parents also set up a ‘sensorium’ at home in Mackenzie’s bedroom. Because she didn’t have the movement of other babies, they prioritised sense, touch and smell.

‘We would set up all these projectors with stars and moons and planets and just lie there with her for hours,’ Rachael said. 

‘She loved it. She also loved listening to her favourite song, Hit Me Baby One More Time, by Britney Spears. We played it every time she cried.’

Rachael wrote a letter asking for genetic testing to be introduced, which was then taken to her mother by 275 members of parliament (pictured with Mackenzie)

Since Mackenzie died last September, the federal Health Minister, Greg Hunt, has also pledged to help them by launching Mackenzie’s Mission

Their legacy has paid off, with $500 million being allocated for genomics, including Mackenzie’s Mission

WHAT ARE THE DIFFERENT TYPES OF SMA? 

* There are four types of SMA, categorised by the disease’s severity and the age at which symptoms begin.

* Type I, sometimes called Werdnig-Hoffmann disease, begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. Some develop the disorder before birth. This is the most severe form of SMA. 

* Type II, also called chronic infantile SMA, begins to affect children between 6 and 18 months old. This form can be moderate to more severe.

* Type III, also called Kugelberg-Welander disease or juvenile spinal muscular atrophy, begins to affect kids as early as 18 months of age or as late as adolescence. This is the mildest form of SMA in children. 

* Type IV, is the adult form of the disorder. Most people affected by this type start having symptoms after age 35, and these symptoms slowly get worse over time. Because it develops slowly, many people with Type IV SMA don’t know that they have it until years after symptoms begin. 

Source: Kids Health 

When Mackenzie slept, her parents tirelessly campaigned to raise awareness of SMA on a national level.

Rachael wrote a letter asking for genetic testing to be introduced, which was then taken to her mother by 275 members of parliament.

‘We talked to politicians and medical professionals,’ Rachael said. 

Since Mackenzie died last September, the federal Health Minister, Greg Hunt, has also pledged to help them by launching Mackenzie’s Mission: routine subsidised genetic testing and Pre-Implantation Genetic Diagnosis.

He told them that $500 million has been allocated for genomics, including Mackenzie’s Mission.

‘We burst into tears when we were told about Mackenzie’s Mission,’ Rachael said.

‘Our little girl would have a legacy.’

Mackenzie died on October 20, after four days at the hospital in Sydney surrounded by Rachael, Jonathan and other members of the extended family.

‘I remember it so clearly as I didn’t expect it to happen so suddenly,’ Rachael said.

‘We had just come back from Tasmania, where we celebrated Mackenzie’s seven monthday on a yacht.

‘I remember being at home and seeing that Mackenzie had changed colour. I yelled for mum and Jonny and we got her breathing again before quickly phoning the ambulance.’

The mother said that she still struggles ‘when I hear ambulances now’.

‘When her neurologist saw her, it became obvious that the look on her face was not good,’ Rachael said.

‘The next four days were a nightmare. She only had the common cold, but she was so weak one of her lungs had collapsed and she had internal bleeding in the stomach.

‘We slept next to her in the bed all that time. She didn’t look like her happy self with all those masks on, I kept showing the nurses and doctors photos to show them what she could be like.’

Rachael remembers when her oxygen mask was finally taken off as being ‘the worst moment of my life’.

‘We saw her slipping away, it was so hard,’ Rachael said. 

Mackenzie (pictured) died on October 20, after four days at the hospital in Sydney surrounded by Rachael, Jonathan and other members of the family

‘We slept next to her in the bed all that time. She didn’t look like her happy self with all those masks on, I kept showing the nurses and doctors photos to show them what she could be like,’ Rachael said

Rachael remembers when Mackenzie’s oxygen mask was finally taken off as being ‘the worst moment of my life’

They continued to celebrate each and every one of her birthdays right up until the end (pictured: her seventh monthday)

They also held two memorials for the little girl, for friends and family (pictured: her memorial)

Rachael and Jonathan celebrated what would have been her first birthday in Centennial Park (pictured), by setting off balloons and bubbles into the sky

SMA IN THE MEDICAL SPOTLIGHT 

* While there is no cure for SMA, there is a drug which helps to increase motor function.

* Developed internationally, a new treatment called nusinersen is producing promising results, with 40 per cent of babies in a recent blind trial of various SMA types reaching milestones such as sitting, crawling and walking. 

* The drug is currently being considered by the TGA to see if it is effective.

* However, the drug costs USD $125,000.

Source: ABC 

After Mackenzie passed, Rachael and Jonny hosted two ceremonies to mark their daughter’s life, neither of which was a traditional funeral.

‘We had something for the family, where we just stood around her in a circle and toasted here,’ Rachael said. 

‘We later celebrated what would have been her first birthday with 300 people in Centennial Park and we got everyone to sing Britney Spears for her. 

‘We blew bubbles into the sky and decided that for every celebration we would use the money we would have spend on her and give it to Ronald McDonald’s Childrens Charity.’

They also continue to raise awareness for SMA:

‘It’s strange, but campaigning for me has been hugely cathartic,’ Rachael said.

‘We just want to raise awareness as the statistics are so scary. All people are carriers for genetic disorders, but genetic testing is only carried out on couples that have a family history of such disorders.

‘Four our of five children born with a genetic disorder have no family history at all.’

Rachael highlighted Prepair’s screening test as something for would-be parents to find out whether their child might be in possession of CF, FXS or SMA.

‘It’s strange, but campaigning for me has been hugely cathartic,’ Rachael said of their tireless aim to raise awareness for SMA

‘Four our of five children born with a genetic disorder have no family history at all,’ the young mother highlighted 

Just before Mackenzie’s death, Rachael and Jonathan started IVF in the hope of having a baby brother or sister for Mackenzie

So far, they have been unsuccessful, despite going through five different rounds so far – something which Rachael said has been ’emotional torture’ alongside grieving

‘Jonny and I aren’t special people, we’re totally normal and this can happen to anyone,’ Rachael concluded

Just before Mackenzie’s death, Rachael and Jonathan started IVF in the hope of having a baby brother or sister for Mackenzie.

‘We’ve now had five rounds and no luck so far, which is emotional torture alongside the grieving,’ Rachael said.

They are now on their last paid-for cycle, raising money for the endeavour on GoFundMe.

‘Jonny and I aren’t special people, we’re totally normal and this can happen to anyone,’ Rachael concluded.

‘We just want to shine a light and let the legacy of our beloved little girl live on forever.’

To donate to the Casellas, and help them in their endeavour to Make Mackenzie’s Siblings, you can visit the GoFundMe page here. 

Read more at DailyMail.co.uk