Diagnosis: when there are no answers

In a world where finding answers can be overwhelming and isolating, Syndromes Without a Name Australia stands as a guiding light for families navigating the realm of undiagnosed genetic conditions.

Swan Australia is the national peak not-for-profit organisation representing approximately 2500 children born every year in our country without a diagnosis, and around 1 in 12 children born with a rare genetic condition. This equates to about 350,000 children across Australia at any one time.

Alongside the provision of essential tools and knowledge for families, SWAN works to increase community awareness and understanding of the impact and prevalence of undiagnosed and rare genetic conditions. The organisation reduces the isolation and emotional strain of raising a child with health conditions and/or disability by helping SWAN families connect, and SWAN advocates for improved health and disability supports, free and equitable access to genetic and genomic testing, and increased research funding to ensure more children can be diagnosed.

Unfortunately, when children seek help from geneticists, only 30-50 per cent of them will receive a diagnosis. This can be especially disheartening for families when the child has a progressive or life-limiting condition. The average time to diagnosis is 5-9 years, and during the process, up to 40% of rare disease patients receive at least one misdiagnosis.

Heather Renton founded SWAN Australia in 2012. She was inspired by her daughter, who has the neurodevelopmental disorder, FOXP1 Syndrome. Before her daughter’s diagnosis, Heather was looking for a support group. There was none. She discovered SWAN organisations in the UK and USA and decided to start a chapter in Australia. “My mother brought me up with the attitude that if you don’t like something, you should try to do something about it, not simply whinge!” Heather says.

Heather acknowledges the weight of “not knowing” on families. It can be an isolating and frightening experience when parents are unsure why their child’s development is not progressing as expected. The absence of a diagnosis raises numerous questions and concerns, such as the child’s future abilities, the hereditary aspect of the condition, available treatments, and the potential progression of the condition.

Furthermore, the lack of diagnosis limits families’ access to support groups, information about what lies ahead, reproductive choices, and options for participation in clinical trials.

Diagnosing children with rare genetic conditions is challenging because DNA can be altered in various ways, and even the most advanced tests cannot detect all of these alterations.

Additionally, some children may have multiple genetic conditions, further complicating the diagnosis process as they exhibit a blend of different symptoms. It is important to note that not all children with unexplained health or developmental issues will have a genetic cause. Families often struggle to comprehend that, despite access to advanced technologies, there are instances where answers simply cannot be found.

SWAN’s support programs include:

• A dedicated telephone support and information line

• Facebook Messenger, email and SMS support

• Access to a Telehealth Patient Pathways Nurse

• Face-to-face catch-ups

• Virtual catch-ups

• Virtual Meet the Experts information presentations

• Connection to other SWAN families caring for a child with the same rare genetic condition

• Family gathering

• Parent groups

• Siblings’ program

Visit swanaus.org.au for more info and to access the wealth of resources available.

By Heather Renton, Founder of SWAN Australia