Pompe disease is one of those rare disorders that progresses steadily over the course of a person’s life.
Patients are lacking the enzyme that breaks down glycogen, and the build-up of glycogen causes the body’s muscles to gradually weaken, which also affects the heart, liver, and nervous system.
Only one in 40,000 people in the United States are diagnosed with Pompe.
And that number is even less in Australia, where there are thought to be only 36 patients, country-wide, living with the disease. Of that number, eight are children and 28 are adults.
There is a treatment available, but it’s extremely expensive. Myozyme® (alglucosidase alfa) was approved by the FDA for use in the United States, and it has also been approved by the Australian medical community to treat Pompe.
Fortunately, for Australians, there is a program to make medicines accessible to people regardless of their income, but until recently, Myozyme was not included in their formulary for the treatment of Pompe in adults. It was, however, included for treating children.
Raymond Saich fought to change that after losing his brother to the disease.
Saich is President of the Australian Pompe Association and tirelessly championed adding Myozyme into the Life Saving Drugs Program until he was finally successful! For his efforts, he was awarded the Order of Australia medal, the highest recognition for outstanding achievement and service on behalf of fellow Australians.
If you would like to learn more about Pompe disease, visit the National Organization for Rare Disorders online.