Podcasts and Media

4 SEPTEMBER 2022

Funding for “life-changing and life-saving” therapy intensifies call for newborn screening

 

Australians with a rare, disabling and potentially fatal muscle-wasting disorder are welcoming Federal Government funding for a new treatment advance as “momentous”.

 

President of the Australian Pompe Association, Raymond Saich, commended the Albanese Government for making the “life-changing and life-saving” therapy Nexviazyme available through Australia’s Life Saving Drugs Program for the treatment of Pompe disease in people aged one year and over.

 

“This is fantastic news for up to 70 Australians with Pompe disease and their families. Their lives will be changed for the better by this new treatment,” he said.

 

Without treatment, Pompe disease is relentlessly progressive. Weakening muscles, it can make it difficult to walk, breathe and swallow without assistance.

 

Nexviazyme offers improvements in muscle strength and respiratory function compared to existing therapy. In simple terms, this means the difference between being able to do simple, everyday things that people without the condition take for granted.

 

“In a degenerative disease such as Pompe, every gain is momentous. Access to Nexviazyme offers the chance to walk further, speak easier or read a story out loud to your children,” said Mr Saich, who has lived with Pompe disease for 20 years.

The Australian Pompe Association is also unveiling a new campaign video calling for Pompe disease to be included in national newborn screening as the only way to prevent delayed diagnosis in babies with the infant form of the condition, which is fatal without prompt treatment, and can result in years of delayed diagnosis in those with the later onset form of the condition.

 

“Pompe disease can occur at any age and early diagnosis and prompt treatment are vital to prevent muscle damage. Without newborn screening, Pompe can be hard to diagnose, and treatment can be delayed by up to ten years, resulting in irreversible damage and disability.”

 

“We commend the Albanese Government on its pre-election pledge to include Pompe disease as part of an expanded national newborn screening program. This needs to happen now,” said Mr Saich.

 

The Australian Pompe Association is aware of four babies that have passed away in the last four years in Melbourne alone, as well as adults who are living with profound disability due to delays in diagnosis and treatment.

 

“No parent should lose a child for the sake of an $8.70 diagnostic test. Simple screening of all newborns would save lives and prevent years of progressive disability caused by missed diagnoses,” said Mr Saich.

 

“Prime Minister Albanese expressed empathy and a commitment to including Pompe disease in newborn screening prior to the election when he met one of our members who lives with debilitating disability due to years of missed diagnosis.

 

“We urge the Government to prioritise the inclusion of Pompe disease in the newborn screening program to ensure prompt diagnosis and treatment for Australian babies born with Pompe and children and adults who have the late onset form of this debilitating condition,” he concluded.

To watch the Pompe Association campaign video, click here

 

Media Contacts:

Tarryn Holland 0439 745 494 (Melbourne)

Maddy Collicoat (Vice-President) 0400 098 093 (Melbourne)

Raymond Saich (President) 0418 966 509 (Sydney)

Renee Brown 0432 070 420 (Perth)

 

 

About the Australian Pompe Association

The Australian Pompe Association is a support group for patients who have been diagnosed with Pompe disease, their families and friends. The Australian Pompe Association is made up of people living with the disease, working together to advocate and raise awareness about Pompe disease to the broader community.

 

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Australian Pompe Association – Podcast With Michel Tchan

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