On Monday 20 January, Galactosaemia was officially added to Victoria’s Newborn Bloodspot Screening (NBS) program.  

This addition will help babies receive treatment quickly and improve their health outcomes in the long term.  

Communications Officer

Newborn screening for Galactosaemia: Providing an earlier diagnostic pathway for Victorian babies

**What is galactosaemia?**

Galactosaemia is a rare genetic condition that prevents the body from breaking down galactose – a sugar found in milk and other dairy products. 

The most serious form of galactosaemia occurs in approximately 1 in 50,000 births. If not diagnosed early, it can cause liver disease, intellectual disabilities and cataracts.  

Since a baby’s primary diet is milk, detection of galactosaemia is vital to ensure babies with the condition are identified and put on lactose-free diets.  

**What is Newborn Bloodspot Screening (NBS)?**

[NBS](https://www.vcgs.org.au/tests/newborn-bloodspot-screening/) is a national program that identifies babies at risk of rare, but serious medical conditions.  

Parents are offered a screen within 72 hours of their baby’s birth, at no cost.  

A midwife or nurse pricks a baby’s heel to collect a few drops of blood on a special card (Guthrie card). These cards are then analysed to identify babies at risk of a number of conditions that can affect normal development and life expectancy.  

This program is fully funded by the state government, and VCGS performs this service for all Victorian babies. 

**What does this addition mean for the NBS program?**

The addition of galactosaemia to Victoria’s NBS program means we now test for 32 conditions.  

The federal government has announced funding to standardise and add new conditions to the NBS panel of every state.  

This funding will ensure every baby across Australia will receive the same service no matter where they are born.  


Read the [media release from the Acting Minister for Health](https://www.premier.vic.gov.au/catching-conditions-early-expanded-newborn-screening). 

Read the [article in the Herald Sun](https://www.heraldsun.com.au/news/victoria/heel-prick-test-for-genetic-disorders-expanded-for-vic-babies/news-story/4ceec42fb1f38b7e717adaecf638731b?btr=93a51dde7b554e31d8b646d186faba66). 

guthrie_stack.jpg

VCGS now offers an advanced diagnostic test for brain tumours, made accessible through a subsidy from the Victorian Government. 

Senior Project Officer, Research Genomics at VCGS 

New subsidy for cutting-edge brain cancer diagnostic test

_Pictured: Olivia Phelan with Victorian Minister for Health, Mary-Anne Thomas on a tour of the VCGS labs._  

**"It makes me excited to think that more people will have the same chance that I had. I think it's so important that we can reach as many people as possible. I'm so healthy today and I want as many young children as possible to grow up and have the best chance at life."**
_- Olivia Phelan, brain cancer survivor_

Patients with brain tumors now have easier access to a groundbreaking diagnostic test, thanks to a new subsidy announced by the Victorian Government. This initiative will cover the cost of methylation array profiling, an advanced diagnostic tool that recently moved from research labs to clinical use. 

Since December 2022, VCGS has been offering this innovative technology. Methylation array profiling allows doctors to quickly determine the most effective treatments, increasing the chances of successful outcomes and reducing long-term side effects for patients. Australia is now one of the few countries, alongside the United States, Canada, and the United Kingdom, to offer this clinically validated technology through VCGS laboratories. 

Previously, patients had to pay for this test unless they were part of a research study. Now, thanks to funding from the Victorian Department of Health through the Victorian Cancer Agency, the cost will be covered for 100 Australian patients. This subsidy aims to remove financial barriers to testing, making it more accessible.  

The Robert Connor Dawes (RCD) Foundation has been instrumental in helping bring this important test to VCGS. The funding will assist VCGS, and the RCD Foundation evaluate the test's economic benefits and its impact on patient treatment and outcomes. The goal is to have the test covered by existing healthcare funding programs.  

**Olivia's story** 

Olivia Phelan was 15 in January 2017, when she was diagnosed with ependymoma, a form of brain cancer. At the time, Olivia was eligible to participate in the [AIM Brain Project](https://rcdfoundation.org/aim-brain/), an initiative by the RCD Foundation. The clinical trial provided rapid access to the most accurate diagnostic information about her tumor. 

"It was very scary," says Olivia. "Not knowing what my course would look like was probably one of the most frightening things." 

Thanks to the clinical trial, Olivia avoided multiple surgeries and much more aggressive chemotherapy and radiation. In the end, she only needed two rounds of chemotherapy and one course of radiation. 

"If I hadn't had access to this clinical trial, I would have faced further surgery, which would have been much more detrimental to my health, both at the time and for the rest of my life," she says.  

![Liv hospital bed.jpg](https://media.prod.vcgs.ninja/Liv_hospital_bed_f351334c99.jpg)
_Pictured: Olivia at 15 years old at the hospital._  

Today, Olivia is vibrant and healthy. "As a 23-year-old, seven years later I'm so much more confident that I was given the best chance possible in my situation to live a long, happy, healthy, life," she says.

![2.jpg](https://media.prod.vcgs.ninja/2_7252e44009.jpg)
_Pictured: Olivia today, with her father, Martin._ 

"It makes me excited to think that more people will have the same chance that I had. I think it's so important that we can reach as many people as possible," says Olivia. "I'm so healthy today and I want as many young children as possible to grow up and have the best chance at life." 

"This disease doesn't discriminate," she says. "Why should any family have to make the decision to have their child go through much more aggressive treatment because they can't afford the test?" 

This support from the Victorian Government is a significant step forward in the fight against brain cancer, providing patients with better diagnostic options and improving their treatment experiences. 

Health Minister & Olivia Phelan.jpg

Babies diagnosed with SMA typically show symptoms within the first six months of life. Without treatment, these infants usually do not survive beyond the age of two. The landscape is changing, however. SMA is now treatable, and early detection and treatment can make a big difference to the outcome. 

Communications Manager at VCGS 

Spinal muscular atrophy: newborn screening for early detection and treatment

### "If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months."   
_- Adriana Baron, mother of Mariana (4), diagnosed with spinal muscular atrophy_

Mariana was born in March 2020, just as the World Health Organisation declared COVID-19 a pandemic. 

Following her birth, Mariana had an Apgar assessment. This is a standard procedure evaluating her immediate health by looking at her skin colour, pulse, breathing, muscle tone, and reflex response. She received a score within the normal range.  

Mariana's mother Adriana assumed all was well and chose to bring Mariana home to be with her dad and older sister, Valentina.  

**Something wasn’t right**

During the initial weeks at home, life revolved around typical newborn routines: sleep deprivation, frequent nappy changes, and feeding sessions. “It wasn’t until I was putting together a photo collage and had Mariana’s photo next to Valentina’s photo at the same age that I realised Mariana wasn’t lifting her head,” says Adriana.  

Adriana also recalls the occasions when Mariana did 'tummy time,' a crucial activity for babies to enhance neck and shoulder muscles and advance their motor skills. “She wasn’t lifting her head,” says Adriana. “I was thinking, ‘something’s not right here.’”  

Adriana attempted various methods to encourage Mariana to raise her head, but none afforded positive results. “One day, as she cried and cried, Mariana looked at me, and at that moment it felt as if she was communicating, conveying, ‘I can't do it,’” remembers Adriana. 

![Valentina at 2 months.jpg](https://media.prod.vcgs.ninja/Valentina_at_2_months_501b3fe83c.jpg)
_Pictured: Valentina at two months old._

![Mariana tummy time.jpg](https://media.prod.vcgs.ninja/Mariana_tummy_time_dcd5711dde.jpg)
_Pictured: Mariana not able to lift her head at the same age._

**Diagnosis**

Because of COVID-19 lockdowns, Adriana couldn't take Mariana to see the general practitioner (GP) but was able to send a video. The GP noticed Mariana wasn’t moving her legs. Despite a 6-month waitlist, the GP prioritised Mariana's speedy referral to a paediatrician. 

The paediatrician suggested it could be one out of three conditions – spinal muscular atrophy (SMA) being one of them. “At the time, I had no idea what SMA was,” says Adriana.  

The hospital neurologist and the test confirmed Marina had SMA. She was three months old.  

**Understanding SMA**

SMA is a genetic disorder affecting the nerves that control muscle movement. In Australia, approximately one in 40 people carry the altered gene responsible for the condition.  

Infants with SMA typically display symptoms within their first six months of life. Without intervention, their life expectancy is rarely beyond two years. However, advancements in treatment since 2018 have significantly improved outcomes, emphasising the importance of early detection and intervention.  

**Perspective shift**

The SMA diagnosis profoundly altered life for Adriana and her family. "When you have a baby, you don't think about these things. You assume you’re going to have a typical child and look forward to milestones like their first steps," says Adriana. "Instead, we were unsure about whether or not she would live." 

The neurologist advised Adriana and her husband of their options: they could admit Mariana to hospital for disease-modifying therapy or seek a palliative care approach. “That’s when everything changed,” says Adriana. “At that point, you start asking yourself, ‘How can I save her life?’ and ‘How can I make her life better than what the doctors say it can be?”.  

Babies with SMA experience severe muscle weakness, often resulting in the inability to reach essential developmental milestones such as head control, rolling, or sitting up without help. “Just imagining Mariana’s life like that was very overwhelming,” says Adriana.  

**Treatment**

Adriana and her husband began researching and connecting with other SMA community parents to understand the condition better. Empowered by this knowledge, they chose to pursue treatment for Mariana.  

Nusinersen, a disease-modifying therapy for all types of SMA was first made available through the pharmaceutical benefits scheme (PBS) in 2018. Mariana received treatment when she was three and a half months old. 

During this period, Adriana and her husband became aware of a gene therapy treatment known as onasemnogene abeparvovec being administered to children with SMA in the United States. They also learned that some Australian children had received this treatment. “We started to plan how we could get funding,” says Adriana. “Mariana didn’t have feeding or breathing issues, and we wanted to preserve those functions.” 

With the guidance of Mariana's neurologist, they applied for a government program to secure funding. Before becoming accessible through the PBS in March 2022, onasemnogene abeparvovec had a price tag of $2.5 million per treatment. With government support, Mariana received treatment when she was eight months old.  

![Mariana treatment.jpg](https://media.prod.vcgs.ninja/Mariana_treatment_cda3bf3b81.jpg)
_Pictured: Mariana, at eight months old, being treated with onasemnogene abeparvovec, a gene therapy._

Dr. Eppie Yiu, Mariana's neurologist and lead of the neuromuscular program at The Royal Children's Hospital Melbourne, highlights the remarkable progress in treating SMA thanks to approved disease-modifying therapies. “In the past, babies with SMA did not survive beyond the age of two, but today we see these children not only survive into childhood, but also thrive and have great quality of life. Children with infantile onset SMA who participated in the early clinical trials are now attending school which is wonderful to see. We know that early treatment results in better outcomes, which is why newborn screening for SMA is so important.” says Dr Yiu.  

**These days**

Mariana is now nearly four years old. “She’s a little miracle,” says Adriana. “She walks and almost runs. She’s very close to a typical child.”  

"If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months." 

![IMG_7122.JPG](https://media.prod.vcgs.ninja/IMG_7122_fb9c6c1cea.JPG)
_Pictured: Mariana, these days. Aged (nearly) four with mother, Adriana._

**SMA now part of newborn screening**

The recent inclusion of SMA in the newborn screening program at VCGS offers every newborn in Victoria screening for SMA within their first few days of life. This allows timely detection and treatment during this critical period. 

“We take great pride in testing for life-threatening conditions through our newborn screening program at VCGS and opening up the path to effective treatments,” says Dr. Meg Wall, Executive General Manager - Laboratory at VCGS.  “Adding SMA to our newborn screening program underscores our commitment to getting our smallest patients in Victoria off to the best possible start in life.” 

A family sitting on the grass. Mother, father and 2 young daughters.

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