MONDAY JULY 28 UPDATE:
Adults with late-onset Pompe disease will now receive government-subsidised treatment.
Federal Minister for Health, Sussan Ley, today (July 27) announced that the drug Myozyme would be listed on the Life Saving Drugs Program from September 1 at a cost of $40 million over five years.
Lama Al-Akhras, 47, of Sutherland, is among the adults who will have access to free treatment.
Until now, only children have been given government-subsidised access to the enzyme replacement therapy.
Pompe is a rare inherited neuromuscular disorder that causes muscle wastage and lung failure leading to premature death.
Just 36 Australians are known to have the condition, with some adults relying on a charitable access program that closed to new patients in 2012.
Al-Akhras was diagnosed in mid-2012, and was one of only eight Australians adults who did not have access to the $100,000-a year treatment.
‘‘This is really a new beginning for me and I am really looking forward to my life changing,’’ Ms Al-Akhras said this afternoon.
Pompe is caused by a mutation in the gene that produces the enzyme responsible for breaking down glycogen in the body.
Myozyme replaces this missing enzyme and could increase life expectancy by up to 25 years.
Ms Al-Akhras is a sole parent, and her major worry was who would care for her son, 13, when she dies.
‘‘I can now look forward to years more happiness with my son,’’ she said.
‘‘I couldn’t wait to get home and tell my son the good news.
Ms Al-Akhras spent countless months lobbying politicians to subsidise treatment for adults.
‘‘The fight is all over now,’’ she said.
Did you support the campaign? Tell us what you think.
JUNE 25, 2015 STORY:
LAMA Al-Akhras, 47, of Sutherland, does not want your pity.
What she does want is for the federal government to subsidise treatment for adults with Pompe disease.
Pompe is a rare inherited neuromuscular disorder caused by the build-up of glycogen in the cells.
It causes severe muscle weakness— affecting breathing and mobility — and has no known cure.
The federal government funds enzyme replacement therapy for children diagnosed before the age of 18.
It does not pay for the therapy for adults.
There are currently 35 people in Australia with Pompe. Of those, nine are children on treatment.
"The GP told [my son] about this disease and that was the worst day of my life. "I literally felt physical pain in my heart. It was just terrible to see the way he cried."
- Lama Al-Akhras
Ms Al-Akhras is using what energy she has left to lobby state and federal politicians to support adults with Pompe.
More than 2,900 people have signed her petition.
''I wish to maintain my independence and continue to work and pay my taxes,'' she writes.
''I do not wish to rely on the disability pension and community services which would cost the government more than the treatment.''
Ms Al-Akhras requires a ventilator for breathing at rest times, and uses a walking stick.
"I'm suffering from depression and anxiety, and for the first time in my life, I've had to have anti-depressants because I could not cope any more," she said.
Her biggest worry is who will care for her son, 13, when she dies. Ms Al-Akhras' ex-husband lives overseas, and has no relationship with his son.
"The GP told [my son] about this disease and that was the worst day of my life.
"I literally felt physical pain in my heart. It was just terrible to see the way he cried."
Ms Al-Akhras' friend Irena Golya, of Yowie Bay, said: "She wouldn't have to worry about succession planning at this stage in her life if she had access to this treatment".
"The clock is ticking and I don't know what to say to my son," Ms Al-Akhras said.
Treatment costs about $100,000 per patient a year, and could increase life expectancy by up to 25 years.
In Australia, it is administered by infusion in a hospital once a fortnight with some 18 adults in Australia having access to the treatment through a charitable program set up by the company that makes the drug.
Ms Al-Akhras' friend, Belinda Delacour-Batch, 38, of Peakhurst, has been on the program since 2009, and it helped stabilise her symptoms.
Ms Al-Akhras and her supporters have written thousands of letters to politicians including Minister Ley, and MP for Cook, Scott Morrison, asking for support.
Details: australianpompe.com/
