Help Goldie Beat Spinal Muscular Atrophy (SMA)

In late April 2022, at just 5.5 months old, a simple blood test would confirm Goldie’s diagnosis of Spinal Muscular Atrophy (SMA), a rare genetic neuromuscular condition. Historically, the prognosis of SMA Type 1, considered the most severe type, is that babies would not see past their second birthday; this is due to the weakening of muscles, specifically around their immature respiratory system, causing difficulty swallowing and breathing. Remarkably, one life-saving treatment (Spinraza) was started just eighteen hours from diagnosis, which is a series of lumbar punctures over many weeks, an option to slow the progression of the disease.

With no family history of the disease, Goldie was born with a deletion of her SMN1 gene, which is responsible for creating a protein for her motor neurons to work correctly, causing interruption to the signals to her muscles which makes them get smaller over time. This ultimately affects her motor development. As well as low muscle tone, Goldie had no reflexes, could not bare weight in her limbs, and had tongue fasciculations, which are key signs of the condition. Goldie's parents, Courtney and Liam, were told that Goldie would not walk; the most gut-wrenching news that any parent could face, alongside the most agonising guilt.

There is no cure for SMA, but fortunately, there have been advances in modern medicine in recent years, and there are now a few SMA treatment options available in Australia. By some miracle, a second treatment, commonly known as Gene Replacement Therapy (Zolgensma) became available on the Pharmaceutical Benefits Scheme (PBS) two days prior to Goldie’s diagnosis. Unfortunately, this would mean Goldie would need to travel interstate as Western Australia was not equipped with a clinic, though they would have travelled to the end of the earth to give her a fighting chance. Courtney and Liam spent almost three weeks at Melbourne’s Royal Children’s Hospital for her life-changing treatment, the second baby from WA to receive the most expensive drug in the world.

Almost four months on, Goldie has undergone three lumbar punctures, frequent blood tests to closely monitor inflammation of her liver, ECGs, several hospital admissions, visits to DTU, Videofluoroscopy swallow studies, frequent visits with the Neuromuscular, Physiotherapy, Speech Therapy and Occupational Therapy clinics.

Although uncertain, the immediate future is looking brighter for Goldie, she is showing signs of new movement and is meeting developmental milestones Courtney and Liam never thought imaginable. Goldie will continue post-treatment steroids for weeks to come and Allied Health care will be ongoing for her life.

With the cost of continual treatments escalating, no family support nearby and Courtney and Liam frustratingly being denied access to carer payments/government support, we hope this fund can help ease some of the financial burden, contribute to their family goals and be of benefit to their aspirations within the SMA community.

Courtney and Liam hope to see Western Australia be the next state on the map to establish a dedicated Gene Replacement Therapy clinic that offers families prompt access to end-to-end treatment and care options should they also be faced with SMA.

You can follow Goldie’s journey on Instagram - @go.for.goldie