Pompe disease is a rare, progressive degenerative muscle disorder that can render sufferers immobile, wheelchair bound and with gradual respiratory failure. The condition is extremely rare, with an estimated occurrence of one in 40,000 live births. In Australia there are less than 30 individuals diagnosed with the condition who are in dire need of a lifesaving drug known as Myozyme.

Myozyme has the potential to stop the deteriorating symptoms associated with the condition, improving the quality of life for the patients. The drug is available under subsidy to babies born with the inherited disorder but late onset Pompe patients cannot avail the same facility. Those who are diagnosed with the condition in later life start to experience early stages of respiratory failure, muscle deterioration, reduced mobility and eventually need to use wheelchairs as a means of getting around. If untreated, the physical deterioration progresses to a stage where patients are confined to wheelchairs and need the assistance of a respirator to breathe, as well as face their life in palliative care.

Myozyme, given as a fortnightly treatment can put a halt to all that and assist the slowing down of the progression of the disease. While there is no cure for the condition, timely intervention with Myozyme can help limit any further deterioration to the patient’s health. The drug is used as an enzyme replacement therapy as Pompe patients are deficient in a certain enzyme needed to breakdown glycogen. When glycogen is not regularly broken down, the result is progressive muscle weakness. Other signs of progressive debility include organ failure and eventual death.

Australian patients suffering from Pompe disease can now only access the drug by spending about $500,000 yearly on their treatment. For 16 patients who need the drug to seek treatment for their condition, Myozyme had been provided through the compassionate access program but that has now been discontinued and new patients can no longer apply for the medication under this scheme. Instead they will now have to acquire the medication through personal funding or forgo the treatment at all.

The president of the Australian Pompe Association has remarked that the longer condition remains untreated, the worse the symptoms will become; symptoms that can be overcome with the fortnightly use of Myozyme.

The drug has been put up for subsidised rebate on the PBS Life Saving Drugs Program repeatedly but the application has been revoked by the Pharmaceutical Benefits Advisory Committee every time. In addition, a Department of Health representative has said that there is inconclusive data to show that using the drug can extend the lifespan of patients diagnosed with late onset Pompe disease. It is believed by the decision making parties involved that Myozyme is more expensive and less effective for late onset patients than it is for infants. However, the fact that the drug has been promising in improving respiratory health for the patients is accepted and acknowledged widely.

Worldwide the lifesaving drug is subsidised in around 40 other countries including Britain and the United States.

References:

1) Sunshine Coast man Brad Gibson needs $500,000 a year for Myozyme to fight Pompe disease: http://www.couriermail.com.au/news/to-keep-dad-alive/story-e6freon6-1225904642110

2) Condemned to a rare and terrible death by bureaucrats: http://www.blacktownsun.com.au/story/1588130/condemned-to-a-rare-and-terrible-death-by-bureaucrats/

3) A mother’s greatest hopes and fears – living life with a rare disease: http://www.mamamia.com.au/mamamia-cares/ompe-disease-a-mothers-greatest-hopes-and-fears-living-life-with-a-rare-disease/

4) Roxburgh Park family’s fight to access costly treatment for rare Pompe disease: http://www.heraldsun.com.au/leader/north/roxburgh-park-familys-fight-to-access-costly-treatment-for-rare-pompe-disease/story-fnglenug-1226880012414

5) Life saving drug rejected for Wagga woman: http://www.dailyadvertiser.com.au/story/738700/life-saving-drug-rejected-for-wagga-woman/