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Key areas we specialise in

Specialising in something means to have specific training, education, proficiency or experience in one particular subject, topic or field. Due to our unique skills and experience, we specialise in many complex areas.

  • Rare diseases - rare diseases that affects only 5 to 6 % of the population, usually being chronic and/or genetic.

  • Sanfilippo - a rare genetic condition that causes fatal brain damage. Sanfilippo mostly affects the brain and is one of a group of conditions called 'childhood dementia'. Over time, brain cells fill up with waste that the body is unable to process. As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood. 
    Learn moreSanfilippo Children’s Foundation - What is Sanfilippo?

  • Batten Disease - a family of rare, fatal neurodegenerative disorders that primarily affect children. Children with Batten disease are typically born healthy and develop normally before symptoms begin to appear. As the disease progresses, children typically suffer seizures, language decline, vision loss, cognitive and motor decline, dementia and early death.
    Learn more - Learn about Batten Disease & support from BDSRA Australia

  • Childhood Dementia - an ‘umbrella term’ for a group of genetic, progressive neurodegenerative conditions that lead to impaired mental and physical function. They are complex disorders, with high care needs and lead to a poor quality of life that affects the whole family. Children and young people affected by childhood dementia have a dramatically reduced life expectancy. 
     Learn more - Childhood Dementia Support | Dementia Support Australia

  • Rett Syndrome - Rett syndrome (RTT) which is seen almost exclusively in females, is a genetic disorder in which the brain does not mature in the way it should. For most affected children, their early development appears normal but then slows down or suddenly halts.
     Learn more - Home - RETT Syndrome Association of Australia 

  • Noonan Syndrome - Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. 
     Learn more - Noonan syndrome - About the Disease - Genetic and Rare Diseases Information Center

  • Neurofibromatosis - Neurofibromatosis is a genetic condition characterised by the growth of benign tumours. There are 3 types: neurofibromatosis type 1, type 2 and schwannomatosis. A common sign is 'café au lait' spots, harmless coffee-coloured skin patches, and a common presentation is having vision problems. Neurofibromatosis is usually diagnosed in childhood. Neurofibromatosis is not curable, but is manageable and many people with the condition lead normal lives.
    Learn more - Home - Children's Tumour Foundation of Australia 

  • Rubinstein-Taybi Syndrome - Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be caused by a genetic change in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. While RTS can be inherited in an autosomal dominant manner, most cases result from a new (de novo) genetic change in the responsible gene and are not inherited from a parent.
    Learn more - Rubinstein-Taybi syndrome

  • 15q13.3 Microdeletion Syndrome - 15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome.
    Learn more - 15q13.3 Microdeletion Syndrome

  • KCNQ2 - The KCNQ2 gene provides instructions for making potassium channels in the brain cells. These channels allow potassium to move outside of the cell, and if the channels are not working properly, brain cells are predisposed to generate excessive electrical signals that may lead to seizures. KCNQ2 pathogenic variants are associated with a wide range of severity of both seizures and development. 
    Learn more - KCNQ2 | Epilepsy Foundation

  • Complex Mental Health - mental health issues are impactful, severe, enduring, or episodic. They can involve high levels of psychological distress, exposure to trauma, and/or conditions such as schizophrenia, personality disorders, and bipolar disorder.

  • Dual Diagnosis - dual diagnosis is the term used to describe patients with both severe mental illness (mainly psychotic disorders) and problematic drug and/or alcohol use.

  • Department of Communities and Justice - services that are committed to the safety and wellbeing of children, teens and adults and protecting them from the risk of harm, abuse and neglect.  
    Learn more - Children and families

  • Brighter Futures Program - understand how this early intervention program helps families with children who are at high risk of entering or escalating within the child protection system.

  • Intensive Family Preservation - improving children’s safety, placement permanency and wellbeing so that children don't end up in out-of-home care and stay with their family instead.

  • Specialised Substitute Residential Care -  an arrangement between a parent and an organisation for a child to receive care away from their usual home when children and young people are unable to live with their own families.

  • Youth Justice - support young people involved in, or at risk of being in the criminal justice system, support with offence-focused intervention programs and support young people on community orders.
    Learn more - Youth Justice | NSW Government

Our team have also been regular guest presenters within the rare disease sector and have provided a wealth of information and knowledge on the advocacy of children with critical and complex illnesses.


"Parenthood is about raising and celebrating the child you have, not the child you thought you would have."

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