A heartbroken mother is channeling her grief from losing her baby girl into trying to create change to prevent other families from going through the same experience.
Ballarat local Emma Tuddenham is the mother of five children, though one is now "an angel".
On April 28 she gave birth to what was believed to be a healthy baby. Though 24 hours after delivery, the baby girl began displaying limited movement of her arms and legs.
Emma and baby Bella were transferred to Monash Children's Hospital, where the family then helplessly watched on as Bella's condition rapidly deteriorated.
For days she was poked and prodded with test after test completed as doctors tried to work out what was making baby Bella so ill.
After 15 days her condition was determined to be terminal Spinal Muscular Atrophy (SMA), a condition that affects the nerves that control muscle movement.
Bella's central nervous system had begun to deteriorate in utero so by the time of diagnosis her condition was too far advanced to treat - she could not move her legs and was struggling to breathe on her own.
Bella died in her mother's arms on May 18, at just 20 days old, with her dad, brothers and sisters around her.
Emma said it was the most painful moment she has ever experienced, though it was also beautiful as the room was filled with love.
A cuddle cot allowed Bella to go home with her family before she was laid to rest. This time at home provided the family with some special memories that they will cherish forever.
While grappling with grief, Emma has been educating herself about the genetic condition: one in 35 people carry the altered gene which causes SMA and it is the leading genetic cause of death for children under the age of two in Australia.
Both she and her husband Adam now know they carry the gene, meaning they have a 25 per cent chance of having another child with SMA.
Now, despite her heartbreak, Emma's biggest wish is to ensure her family's pain and Bella's short life is not in vain.
"I want to raise awareness of SMA. I feel like our story might be able to help other people," she said.
"I had Bella on my tummy and was looking into her eyes and thought 'you're not coming into this world and leaving so quickly and then I'll just hide myself away in a hole'.
"She can't live so I want to put all my effort into helping other people and the next generation of babies. She has made that happen."
There are two actions that can be taken to prevent other families from feeling this pain, Emma said, or at least to give them options.
The first is education and awareness of the options available. A saliva or blood test can be undertaken by a doctor or obstetrician to screen for genetic diseases before falling pregnant.
Emma and her husband were not aware there were tests available to test for genetic conditions, such as SMA, when planning to have another child.
Emma wants all doctors, obstetricians and midwives to be aware of genetic testing options and to advise patients so they are armed with all of the information they require before falling pregnant, or when they are in early pregnancy.
"We had no idea a simple test existed that could have alerted us to the fact we are both carriers of the SMA gene before falling pregnant.
"There are many options with IVF to avoid having a SMA baby," Emma said.
She said testing for genetic conditions in early pregnancy would also have empowered her to have been able to make a decision about whether or not to proceed with the pregnancy.
"If we had been offered genetic screening earlier we would have known there was a high chance that she was a carrier and we could have made a decision."
The second action that could be implemented is to test for SMA through the Newborn Bloodspot Screening (NBS) test - otherwise known as the heel prick test - which is already offered to all newborns in Australia.
According to the government, NBS testing screens for around 25 conditions at birth in Victoria. The aim of the program is to improve the health of babies by identifying those at risk of developing a serious condition, generally before symptoms are present, enabling earlier intervention.
While SMA screening is available in New South Wales, it is not yet offered in Victoria.
On Heel Prick Awareness Day, Emma has urged the state government to introduce it in Victoria because while there is no cure for SMA, studies are currently being undertaken.
Early detection means treatment can begin early and gives the baby a better chance at life and a healthy future.
"Unfortunately if Bella was born in NSW we would have known earlier that she had SMA," she told The Courier.
"If they had offered us this testing she would have had a short, beautiful life with us and we wouldn't have been poking her with needles - we would have been nurturing and cuddling her at home or at least in our hometown."
August is SMA awareness month and throughout the family is running a campaign called Move for Bella as well as a Rideathon event.
It aims to raise awareness of SMA - asking people to commit to moving their bodies for 31 days and raising money for other babies like Bella.
Emma hopes to raise $100,000 before the end of the year. So far she has raised $50,000.
A state government spokesperson said the government extended their "deepest sympathies to Ms Tuddenham and her family for the tragic loss of their daughter".
"We're considering the implementation of Spinal Muscular Atrophy screening, with a pilot program currently underway in New South Wales that will inform the test's introduction in Victoria.
"Before implementing SMA screening in Victoria, we'll be doing detailed work to fully understand the impact of screening and ensure appropriate systems are in place for follow-up care of babies with abnormal screening results."
To learn more, visit: https://www.hottemple.com.au/move4bella
To donate, visit: https://au.gofundme.com/f/bellas-memory
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