I'm a 47-year-old single mother of a 13 year old son with no family in Australia. I was diagnosed with Pompe's disease in mid-2012 after long years of inexplicable health deterioration.
Pompe disease is caused by a complete or partial deficiency of the enzyme, which is responsible for breaking down excess glycogen that accumulates in the muscles. As the excess glycogen continues to accumulate in the muscle cells it results in progressive muscle damage, severe muscle weakness, and increasing disability.
Pompe has been affecting my lungs, limbs and diaphragm. I have been using a Bi-Pap machine and walking stick for more than two years. I have had a few dangerous falls and needed to reduce my working hours a lot.
The Australian government has refused to subsidise the treatment for me, and as a result my health is deteriorating rapidly. The treatment will not cure the damage that's happening to the muscles, but will slow down the deterioration.
Currently I am still fighting to have the treatment subsidised by the government. I have approached this on many different levels and will continue my efforts because I love my son who has no one but me in this world. My health's deterioration in every way has impacted on my son tremendously.
Lama Al-Akhras - Patient