Marielle Smith (SA, Australian Labor Party) Share this | Link to this | Hansard source

[by video link] Today I want to draw the Senate's attention to one of South Australia's most remarkable residents, Ms Anna Pak Poy, and the work of the foundation started by her and her husband, Marc, the Rare Find Foundation.

Anna and Marc have experienced a trauma that would test any human to their absolute breaking point. Their beloved son, Sebby, was diagnosed with a disease called Tay-Sachs when he was just seven months old. Tay-Sachs disease is a rare genetic disorder which Anna and her husband, Marc, had no idea they could be carriers of. It is an inherited neurodegenerative condition of which roughly one in 300 people is a recessive carrier. The carrier rate is higher in certain communities. While it is a rare condition, it is also a devastating condition. Infantile Tay-Sachs first presents symptoms at about six months of age. Signs can range from minor indications of muscle weakness or movement problems to the loss of motor skills and seizures. When parents have no idea they are carriers, the symptoms are unexpected, perplexing and devastating. It has no cure. Life expectancy is less than four years.

In March 2019, Anna and Marc lost their beautiful, cherished son, Sebby, at just 22 months old. They were robbed of a future with their little boy. Not only that; from the first point of diagnosis they encountered roadblocks and bureaucratic red tape within our health system and within the supports that are meant to help families like theirs experiencing such trauma. The uncertainty places parents on an island; the diagnosis leaves them stranded there. Specialists have not previously encountered the disease, there are no other parents to talk to who are in the same boat, and there is no clear path to follow.

Whether it is Tay-Sachs or Sandhoff disease, while the parents are trying to support their child, the disease is taking hold in the brain of their child. Both diseases affect infants in a similar way. A genetic mutation disrupts the activity of an enzyme key to the body's capacity to break down lipids. These are most commonly understood as fats, though that is not the only form of lipid. The point is that these are common chemicals and the inability of the body to process these adequately is a huge problem. Tay-Sachs and Sandhoff each have different genetics and a different molecular pathway, but they both result in the build-up of lipids, specifically called gangliosides, in the nervous tissue of the brain. In normal infants, gangliosides are made and biodegraded rapidly in early life as the brain develops. The inability of the body to remove these chemicals leads to the slow deterioration not only of brain tissue but also of muscles and nerves. For infants, ultimately, it is fatal.

For Anna and Marc, the impact of the shock and pain of Sebby's diagnosis was compounded by the limited support available to their family to guide them and the limited support available to those medical professionals who treated their son. Thankfully, they received some support from a family overseas that made them feel just a little bit less alone, but there could have been more. There should have been more. Australia has some of the best healthcare professionals and facilities in the world, but they are not invincible. They are not always prepared or equipped for rare diagnosis, and that is what needs to change.

I must be completely honest: I'm not sure I have the strength or resilience within me that Anna and Marc have shown. I am in complete awe of them. While they have lost their beloved son, they have never lost their determination to fight for him or indeed for the other little boys and girls in Australia diagnosed with rare diseases. In August 2019, Anna and Marc together established the Rare Find Foundation to provide care and support for families throughout the diagnosis of Tay-Sachs and Sandhoff diseases. The foundation seeks to raise awareness of the rare diseases and promote carrier screening, early diagnosis and further research. The work of increasing screening is essential because rare diseases in too many children in Australia are going unnoticed for far too long. Until now, very little attention has been brought to Tay-Sachs and Sandhoff diseases and, when a diagnosis of a rare disease is made, there has been far too little support available to families to help them through such a difficult time.

One thing which can help is connecting families who receive one of these diagnoses with another family who has been through the same, and that is core to the foundation's work. Another is to raise awareness in the community about what these diseases are and how we can better support those families and children who are affected. We know that awareness plays a critical role in prevention, research and enabling systemic change. It can also bridge the isolation that affects so many families. To this end, the foundation has launched diagnosis support and disease information guides. These play a central role in raising awareness of these conditions, acting as an educational tool for families who have received a diagnosis and further educating the wider community. I want to acknowledge the Hospital Research Foundation, whose generous support has made this work possible.

But, of course, there is more work ahead, not least of which is tackling the deficiencies within the NDIS that are continuing to cause families and children with these diseases an unbearable degree of distress that must not be allowed to continue. In this work, I'm proud to stand by their side as both a supporter and as patron of the foundation. I know the Rare Find Foundation will make a difference, because I know that Anna will never stop fighting for children like her son Sebby and she will never ever stop fighting for the families that love them.