General News
Landmark reforms to deliver on the promise of Australia’s NDIS
A response to the Tune Review and it is a positive for NDIS Participants.
Minister for the National Disability Insurance Scheme, Stuart Robert today announced the most substantial package of reforms to the NDIS since its establishment.
Safe in Sound Online Concert Series 2020
Introducing Safe in Sound’s new online concert series.
They are offering free online performances to families anywhere in Australia affected by the Covid19 pandemic.
2020 PMD Virtual Family Symposium – July 25, 2020
The organizers of the 2020 PMD Virtual Symposium would like to extend their most sincere thanks to all the families, clinicians, scientists, and honored guests who took the time to join us for the event. The recorded presentations are now available for those who...
The NAA issued a Joint Position Statement
The Neurological Alliance Australia issued a Joint Position Statement calling on the Australian Government to permanently extend the amendments made to MBS Telehealth
Leukodystrophy Australia is a proud Neurological Alliance Australia partner. Other NAA Position Statements are available to read on the NAA website:
https://www.msaustralia.org.au/about-msa/neurological-alliance-australia-naa
Murdoch Uni Sydney Study Opportunity For Our Leukodystrophy Parents
Parents of children with Leukodystrophy, Parenting stress is an important issue to family functioning and wellbeing. It is especially important to this community where parenting stress is found to impact significantly on symptom severity, disability and quality of...
Funding for genetic testing to affect thousands of families.
Around 3000 Australian families are expected to benefit each year from the Federal Government’s listing of genetic testing for childhood syndromes and intellectual disability on the Medicare Benefits Schedule.
Coronavirus Resources
Courtesy of SWANAUS, we have provided some resources to assist you during the COVID-19 pandemicMental Health Resources This Way UpSchool TVHeadspaceLifelineBeyond BlueParentlineUseful Websites DHHS - Coronavirus website Advokit People with Disability Australia NDIS...
Massimo’s Mission has LIFT OFF!
Massimo’s Mission has LIFT OFF! Massimo's Mission, a clinical and research program in childhood leukodystrophies, is now recruiting Australians facing challenges in obtaining a confirmed genetic diagnosis for a suspected leukodystrophy. Massimo’s Mission is a...
The National Strategic Action Plan for Rare Diseases
Australian academics first called for a national plan for rare diseases in 2010, so it is with great excitement that the National Strategic Action Plan for Rare Diseases (the Action Plan) has been launched. Rare Voices Australia (RVA) has led the collaborative...
National Strategic Plan for Rare Disease 2020
https://www.rarevoices.org.au/page/167/national-strategic-action-plan-for-rare-diseases https://www.health.gov.au/ministers/the-hon-greg-hunt-mp/media/first-national-action-plan-for-rare-diseasesThe Murdoch Children’s Research Institute’s (MCRI) Rare Diseases Now...
Massimo’s Mission: closing the loop from genetic diagnosis to clinical treatment of leukodystrophies.
https://www.australiangenomics.org.au/massimos-mission-closing-the-loop-from-genetic-diagnosis-to-clinical-treatment-of-leukodystrophies/
Massimo’s Leukodystrophy Mission has commenced
https://medicine.unimelb.edu.au/mms/mms-staff-news/newsletter-issue-14-december-2019/massimos-leukodystrophy-mission-has-commenced
One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid
Ryan Taft didn’t know that he would become one of the world’s leading experts in diagnosing rare genetic diseases. Then he met Stephen Damiani.
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
Courtsey of BMC Neurology: Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The present report describes the clinical, neuroimaging, and genetic findings of a female patient with adult-onset VWMD. In addition, to provide a clearer delineation of the clinical and genetic characteristics of female adult-onset VWMD patients, 32 genetically confirmed female adult-onset EIF2B-mutated cases are summarized.
AGS Family Conference – June 22, 2019
The Leukodystrophy Center at Children’s Hospital of Philadelphia (CHOP) would like to thank all those who took the time to join us for the 2019 AGS Family Conference on Saturday, June 22. They would also like to extend a special thanks to all those who watched the...
The Long Walk for Leukodystrophy
We’re in awe of John Olsen’s marathon 2016 solo journey by foot across the continent in fundraising for Leukodystrophy Australia.
Rare brain disease that killed partner spurs man onto 5,000km hike across country
http://www.abc.net.au/news/2017-01-03/man-crosses-australia-in-bid-to-raise-awareness-leukodystrophy/8159102
Australian Story – Cracking the Code
Introduced by Dr Norman Swan from ABC Radio's Health Report The Damiani family's story has been described as a breathtaking example of how medicine can be transformed by the determination of ordinary people. Four years ago, Stephen and Sally Damiani's baby son Massimo...