Stay happy and healthy.

Heather Renton
Chief Executive Officer
SWAN Australia

COVID-19 Journals

• Do you have a Genetic, Undiagnosed or Rare Disease?
• Do you care for someone with a Genetic, Undiagnosed or Rare Disease?
• Are you part of a Support Group for people with a Genetic, Undiagnosed or Rare Disease and their carers?

If you answered yes to any of these questions and keep a journal, you may be interested in the C19 Journals Research project. You can download the C19Journals information sheet and register here by the 30 June. Please note this research project is a national project. For further information please email: C19Journals@mcri.edu.au or contact Dr Stephanie Best or Monica Ferrie: (03) 8341 6315.

Special Needs COVID-19 Study
SWAN families are invited to participate in an international study aimed at understanding how families with autistic children and children diagnosed with ADHD, Down Syndrome, Fragile X, Intellectual Disability (not-otherwise specified), Williams Syndrome and other rare genetic diseases, are coping with the coronavirus pandemic. The study can help identify the factors that influence parental wellbeing during crises, and findings from the study will inform the development of support programs in the future. Just under 40 researchers around the world are collaborating on this work.

The study will involve parents completing an anonymous online survey and the survey closes on 30 June. For more information, please contact Ru Ying Cai 

FaceMatch Research Project 
SWAN parents of children and adults with significant developmental delay or intellectual disability are invited to participate in the FaceMatch Research project. 
The FaceMatch project uses computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer. As we know, the time prior to diagnosis is one of the toughest periods in the journey for SWAN families.

People with the same genetic condition can often share similar facial features. By matching facial images and written descriptions of undiagnosed children and adults from around the world, the project aims to provide a genetic diagnosis for children at an earlier age, help more families find a diagnosis and discover new ID genes.

To find out more about the project, please download the project information sheet. To register please click here. (it takes about 5 minutes). For further information please contact Jackie Boyle or Dr Tracy Dudding-Byth on (02) 49853100.

Syndromes Without A Name (SWAN) Australia 

Bethany health has been compromised since birth. Caring for Bethany was a challenge for the first 18 months of her life with minimal support from medical professionals. Bethany's symptoms were vague enough to be dismissed but significant enough to realise that her health and development were not like those of a "normal child" her age. Some of Bethany's issues of concerns are:

• Feeding and Gastrointestinal Disorders 
• Speech and communication regression (non verbal until 6)
• Balance disturbance
• Repetitive behaviours
• Seizures and abnormal electroencephalogram (EEG)
• Disturbed sleep patterns with frequent waking periods 

The Lutton family has been walking along this SWAN path since Bethany was diagnosed with autism at 18 months of age. However the Lutton's knew there was much more to Bethany's condition than just autism and in the early days, they did not realise that Bethany fitted the description of a SWAN child. As time went on and more symptoms developed it became apparent that a genetic syndrome was to blame and that autism was just one of the many symptoms. Like so many SWAN families, the Lutton's were desperate for answers that would explain Bethany's condition. What would it mean for her future? Would she continue to regress? There were so many unknown answers, making it difficult to comprehend and accept Bethany for the way she was, a SWAN child with no explanation for her rare undiagnosed genetic condition.

The Lutton's, like so many SWAN families, did everything they could to seek a diagnosis, consulting with over 27 specialists in the public and private system over the years. They managed to access limited genetic testing through Queensland Health and have struggled to pay for expensive private consultations in a bid to find answers for Bethany. The family came close to a diagnosis in 2018, but Bethany is the only one in the world to have her specific gene change so geneticists are unable to prove if this was the cause of Bethany's rarer disease. At almost 10, Bethany remains undiagnosed, a mystery to her family, the community that supports her and clinicians. The family hopes that they can access more extensive genetic testing in the near future. Giving "it" a name matters, there is more to a diagnosis than a name. Even if there is an infinitesimal chance of treatment let alone, the Holy Grail, a cure.  

Thanks to the kind generosity of our SWAN supporters, we have been able to facilitate a range of programs for SWAN families like the Lutton's, which connect them with other SWAN families for support, information sharing and to limit the isolation felt by so many SWAN families. All donations over $2.00 are tax deductible and your support means we will be able to continue providing the support our SWAN families need. We want to ensure families like the Lutton's do not feel alone and overwhelmed on their unknown journey as they care for their SWAN children.