News

International PKU Day

Celebrating International PKU Day! Today on Friday June 28th, we celebrate International PKU Day! Why the 28th? It’s because a combination of three things: 1. Robert Guthrie, the inventor of the newborn screening test, was born June 28th, 1916, 2. Horst Bickel, the first to develop a low protein diet, was born June 28th, 1918,

2019 National Family Retreat Registrations are now Open!

Exciting news!! Registrations for the 2019 National Family Retreat are NOW OPEN! The Retreat will take place in beautiful Tasmania from Friday 4th to Sunday 6th October. Come meet other members of the MDDA community, and their families, in a fun and social environment creating a weekend that you won’t ever forget. For more

PKU Mums & Bubs Morning Tea @ Royal Melbourne Hospital

MDDA wishes to congratulate the Royal Melbourne Hospital on a great initiative of getting PKU Mums and bubs together to share their experiences. You can read more about the Morning Tea here. This is going to be an annual event with next year set to include Grandparents too. This was a great event for the

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 Parliment 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

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

Sapropterin 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 Sapropterin (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).

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