According to a story from Healthworld, the government of Kerala, an Indian state located on the southwestern coast, has announced plans to take action in order to treat patients with rare diseases such as Pompe disease. This plan includes the identification of three sites throughout the region that will be dedicated to treating rare diseases. However, despite these promises, the government of Kerala has been lax in fully implementing the project as ordered by judicial intervention.
About Pompe Disease
Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of the certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.
Unfortunately, every delay means wasted funding for the project and another day of suffering for residents of Kerala with Pompe disease. Two patients have passed away in the last year as the wait for treatment continues to drag on.
Few Options for Pompe Disease Patients in Kerala
Mr. Manoj Manghat of the Lysosomal Storage Disorders Support Society (LSDSS) issued a statement in which he claims that the state of Kerala has failed to address the needs of Pompe disease patients with the needed urgency. Kerala already had public programs that are geared towards the treatment of other diseases. Meanwhile patients and their families are left to fend for themselves with very few sources of support.
