Julie Cini lost two children to a rare genetic disease. She’s now been awarded an Order of Australia.

This article deals with child loss and might be triggering for some readers.

In 2004, when Julie and her partner Ross welcomed their first baby Montanna into the world, they both thought she was "perfectly healthy".

“I thought I had a perfect little baby. Simply by looking at her nothing appeared wrong with her,” Julie explains to Mamamia.

It wasn’t until three months later when Julie took Montanna to their GP with a cold that everything changed. 

“The doctor told me she wasn’t worried about the cold, but he was worried because she had no reflexes,” explains Julie. 

Montanna was diagnosed with the rare genetic disorder, spinal muscular atrophy (SMA) Type 1 – something which had been inadvertently passed on by both Julie and Ross who unbeknownst to them, were both carriers.

Spinal muscular atrophy is a condition that affects the nerves in the spinal cord, which control all the muscle movement of the body. Everything from head, arm, and leg movement through to the actions of breathing and swallowing are affected, eventually causing breathing to become laboured.

According to UNSW Sydney, SMA affects one in 10,000 babies born in Australia, and is the leading genetic cause of infant death. 

While those impacted by the neurological illness strive to raise awareness of the condition year-round, it’s SMA Awareness Month each August that has communities pushing for stronger advocacy, education, research and sharing of lived experiences like Julie’s. 

Along with receiving Montanna’s devastating diagnosis, Julie and Ross were also informed that the condition was not curable, nor were there any effective treatment options. 

“At the hospital, I was taken into a little dark room and told that there is no cure for this disease. ‘Love her until she dies, and there is nothing more we can do,’ they told me. Ultimately, there was no hope for this disease. You were given no hope,” Julie explains.”

For years since, Julie – also known as the ‘legacy queen’ – has spent her life helping families with babies diagnosed with SMA. In June, she was awarded the Medal of the Order of Australia (OAM) in recognition of her extensive work in creating Spinal Muscular Atrophy (SMA) Australia, and her extraordinary dedication to making a difference for SMA patients. 

Julie has changed the lives of many families affected by SMA, despite the series of tragic events in her own life. 

“As a first-time mother, I was in disbelief, and then I was in denial. It took a few months for me to realise that my daughter’s muscles were wasting away before my eyes. It’s horrible to watch,” she says. 

From the age of five months, Montanna’s condition was severe.

“It was like having an intensive care ward at home.

“She could only lay flat. I’d move her position every few hours but if we moved her upwards more than twenty degrees she would choke. We were also suctioning her saliva because she couldn’t swallow. It was horrific.”

As Montanna’s condition was critical, Julie’s entire existence revolved around her daughter 24 hours a day, seven days a week, eventually taking its toll.

At 10-and-a-half months of age, Montanna was admitted to the hospital with suspected pneumonia. She slowly slipped away and stopped breathing. 

“The best cuddle I had with Montanna was after she died because I could pick her up. I could be her mum,” Julie says.

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A post shared by Julie Cini (@the.legacy.queen)

It was only six weeks later, while still grieving, when Julie and Ross created an association to help others affected by spinal muscular atrophy, SMA Australia.

“We knew through this process that we wanted to support others and I promised her we will fix it, if not for her then for everyone else,” Julie says. 

In 2006, in the midst of setting up their organisation, Julie discovered she was pregnant. Although genetic testing was an option, the couple decided not to undergo it.

“We thought we didn’t need it, that it can't happen to us twice, that we can’t be that unlucky?” she says. 

When Julie was only 13 weeks pregnant, Ross was struck and killed by a truck in the driveway of their family home. But the sadness, unfortunately, didn’t end there. Once their second daughter Zarlee was born, her cord blood underwent genetic testing, and the result confirmed Zarlee was also born with SMA Type 1.

Zarlee died in hospital just after her first birthday, on Christmas Day in 2007.

Despite this series of tragedies, a fire was lit within Julie which drove her to invest all her energy into her organisation. 

“I was on a mission to fix this disease for kids in Australia,” she says.

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A post shared by Julie Cini (@the.legacy.queen)

SMA Australia evolved over the years from one-on-one family support though to a national advocacy campaign.

The work of SMA Australia has assisted those with SMA, their families, and carers by creating options for those affected. The organisation also raises awareness in the community and has advocated for research studies to be conducted in Australia and for treatments to become available once they are discovered.

19 years since founding the organisation, Julie says she’s far from done with helping others.

“Recently, I set up Advocacy Beyond Borders – a global group advocating for patients with rare diseases, including SMA.

“My job isn’t done in Australia, but there are families around the world that are facing similar challenges and also need support.”

Advocacy Beyond Borders is focused on building the right relationships with relevant international stakeholders to ensure everyone plays their part, including advice to access medicines and treatment, advocacy for newborn and other screening programs, advocacy for equitable access to testing, support and care, and also access to reimbursement pathways. 

Largely thanks to Julie’s relentless efforts and years of advocacy, SMA is now one of several conditions included in the newborn screening program in NSW, VIC, ACT, QLD, and WA. It’s expected that SA, NT and TAS will begin screening in 2024.

Julie describes this early detection as hugely “transformable” to offer parents effective treatment for their baby.

“There are wonderful treatments now that can save a child’s life,” Julie says. However, the sooner they’re started, the better the outcome. That’s why early diagnosis is absolutely crucial to ensure the best possible outcomes for a baby with SMA, she explains. 

If SMA is not detected at birth via the Newborn Screening Program, the symptoms of SMA are often first noticed by a parent or caregiver if the child is not meeting certain motor-development milestones. 

Parents may observe their child isn't reaching average physical milestones for the child's age, including the ability to hold up their head, to roll over or to sit themselves up independently without support.

“What we have achieved in Australia will save many lives of children born with SMA in the future. I want to replicate our success here and help those who are less fortunate, in countries with no access to newborn screening programs or life-saving medications yet.

“I have left some amazing legacies, and I know when I see my family again, they will be as proud of me as I am.”

Early identification and treatment of Spinal Muscular Atrophy (SMA) is critical for survival and optimal long-term health. Check out how to support the work of Julie Cini and SMA Australia.

This information is general in nature and does not replace the advice of a healthcare professional. Parents should ask their healthcare professional for a specialist referral if they have any concerns. 

Feature Image: Mamamia/Instagram/@the.legacy.queen