Mackenzie's Mission: Carrier Screening for All Australians

In 2017, Mackenzie Casella was born. She was the perfect baby; beautiful, sweet and a complete picture of health. Her parents Rachael and Jonathan Casella were madly in love and enjoying the newborn bubble. They were happy beyond what they ever imagined, they felt complete.

At 10 weeks old it all changed when Mackenzie was diagnosed with a terminal condition called spinal muscular atrophy (SMA). The diagnosis came out of nowhere.

SMA is severe neuromuscular condition where the motor neurons in the spinal cord are unable to send messages to the body. Babies affected by it slowly lose their ability to move their arms and legs, eventually losing the ability to breathe and swallow. Most often passing away by eight months of age.

There is no cure. For Rachael and Jonathan, the news was utterly devastating. Their world crumbled.

Rachael and Jonathan were left asking why this happened to their little girl. They had undertaken all the pre-pregnancy testing and advise in preparing for a healthy baby, including the non-invasive pregnancy test taken at 10 weeks to check the babies’ chromosomes.

They were never told about the risk of genetic conditions as they had no family history. They had never heard of SMA and were certainly not aware that they were both genetic carriers for the condition.

Rachael and Jonathan began looking into genetic conditions and learned that they could have had a simple cheek swab or a blood test that would have identified that they were at risk of having a baby affected by a genetic condition. They had not been offered the private testing because of having no family history.

However, amongst their research they found out that four out of five children born with a genetic condition had no family history and they everyone carried on average three to five genetic conditions in their DNA. What happened to them, could happen to anyone.

With this information they could not understand why this testing was not offered to all prospective parents; because while SMA is a rare condition, combined with the other thousands of genetic conditions, there is a one in fifty chance of being in couple who has a high risk of having a baby with a severe or life limiting genetic condition.

One month after Mackenzie’s diagnosis Rachael and Jonathan began campaigning the Government for change. Writing to every member of parliament explaining the issue and requesting genetic carrier screening to be routine and free for all prospective parents in Australia.

Sadly, in October 2017, Mackenzie Casella, just seven months and eleven days old, passed away in her parents’ arms.

In the May 2018 federal budget, the Australian Government announced $500 million towards genomics research: the Genomics Health Futures Mission, starting with a $20 million study of reproductive genetic carrier screening, called Mackenzie’s Mission.

Mackenzie’s Mission offered screening to up to 10,000 couples across Australia for about 750 severe, childhood-onset genetic conditions. This allowed prospective parents to gain information about their likelihood of having a child with any of these genetic conditions.

The three-year research study investigated how reproductive genetic carrier screening should be provided as a national program, with the long-term aim of making screening free for every couple in Australia who chooses to have the test.
The study ended in 2022.

From 1 November 2023, the Australian Government has introduced Medicare rebates for couples to determine their combined risk of having a child born with SMA, cystic fibrosis (CF) or fragile X syndrome (FXS).

Carrier screening is now available for all Australians.

Lumi Health is providing a simple at home solution, to make carrier screening more accessible. Anyone can order genetic carrier screening online on the Lumi website.

A simple cheek swab will be sent to you anywhere in Australia. This service includes a telehealth appointment with a doctor and, if you have an increased chance of passing on a genetic condition, a genetic counsellor will call you to talk through the findings and your options.

Rachael is now an Ambassador for Lumi Health to continue raising awareness of the importance of being more informed when family planning.

Although the first part of their mission is accomplished, the Casella’s will keep fighting until more genetic conditions are added to the free screening list.