News

WA Retreat

Such a fantastic weekend was had with our wonderful Western Australian families at our retreat on the 30-31st March. It was so fantastic to see so many new faces. A record for the most adults (once again) at any retreat to date and also most partners/spouses (ever) right by their side. And first prize goes

Raising Awareness at Parliament House

The Metabolic Dietary Disorders Association headed to Australia’s Parliament House in the lead up to Rare Diseases Day on 28 February. Together with Rare Voices Australia, and other important representative groups of rare diseases from across Australia, we were there to raise awareness about the challenges and inequities people with rare diseases, such as Inborn Errors of Metabolism.

Australians with a rare genetic disease live on only 1 to 8 grams of protein a day. The Great Protein Challenge asks Australians to walk in their shoes for 24 hours

Australians are being asked to give up protein for 24 hours during February to help raise much needed awareness and funds to support those living with a debilitating, rare disease which means they can only eat 1 to 8 grams of protein a day, less than one egg. The Great Protein Challenge, launched by the

MEDIA RELEASE Australia’s only low-protein menu voted a winner for The Grand

The Grand Hotel Warrandyte has been awarded the People’s Choice Award at the 2018 Australia Hotels Association (AHA) Victorian Awards this year. The Grand has been recognised for launching Australia’s only low-protein specialised menu for families with a rare Inborn Errors of Metabolism (IEM) diseases, such as PKU (phenylketonuria), as well as providing a superior

Kuvan to be listed as a treatment for children and adolescents living with Phenylketonuria – PKU in Australia

14 December 2018. ——- The Metabolic Dietary Disorders Association is extremely pleased with the decision of the Pharmaceutical Benefits Advisory Committee (PBAC) to recommend the listing of Kuvan (sapropterin dihydrochloride) on the Pharmaceutical Benefits Scheme (PBS) for children and adolescents under 18 years of age (with continued access into adulthood) living with phenylketonuria (PKU). Following

Australia’s first National Rare Diseases Framework

The Australian Government announces they are taking more action to support people battling rare conditions by developing Australia’s first National Rare Diseases Framework and Action Plan. 16 November 2018 The Liberal National Government is taking more action to support people battling rare conditions by developing Australia’s first National Rare Diseases Framework and Action Plan. Funding

Tobias S Hagedorn , Founding Trustee of GAP, public announcement speech.

Public announcement of the foundation of the Global Association for Phenylketonuria (GAP) on July, 6th, 2018 at the occasion of the NPKUA-Conference in Atlanta, Georgia (USA)Tobias S. Hagedorn, Founding Trustee of GAP Introduction Good morning everybody! I am Tobias Hagedorn. Since 2001, I am the Secretary of the European Society for Phenylketonuria and Allied Disorders. Since

Global Association for PKU (GAP) Unveiled

(Atlanta, July 7 2018) Today at the NPKUA Conference in Atlanta, Georgia, the Global Association for Phenylketonuria (GAP) was unveiled. Representatives from patient groups across four continents have been working towards this dream since it was first conceived of in Dublin, Ireland 2016. Representative from Germany, Tobias Hagedorn stated, “I am proud and deeply humbled that it falls to

PBAC Kuvan – Deferral

MDDA welcomes the decision by the Pharmaceutical Benefits Advisory Committee (PBAC) to defer the listing of Kuvan (sapropterin hydrochloride) on the Pharmaceutical Benefits Scheme (PBS) for Australians living with phenylketonuria (PKU). Whilst it is disappointing not to have received a positive recommendation, the deferral means the PBAC recognises the benefit of Kuvan for some PKU

Feb 2018 Parliamentary Luncheon – MDDA Speech: Monique Cooper

MDDA President, Monique Cooper presented at Parliament House, Canberra, on the 15th February 2018 with Nicole Millis from Rare Voices Australia. Here is Monique’s speech. Thank you Nicole….Whilst I am here today representing the MDDA as their president, I also stand before you as a parent of a child diagnosed with a rare disease known

University of Western Australia Research Survey

Families living with rare diseases are being invited to complete an online questionnaire about preconception carrier-screening (please see web link below). The questionnaire is part of the Australian Genomic Health Alliance (AGHA) preconception carrier screening flagship program being drafted currently. The study is being conducted by a multidisciplinary research team led by Professor Nigel Laing

How Low Did You Go? Thank you to all of our PLAYERS and PLEDGERS.

A BIG thank you to all of our Pledgers and Players who took part in the 2018 Great Protein Challenge held in February. Your support means so much to us and all those people living with PKU who have to ‘go low pro’ every single day. We raised over $16000 in our first year launch