According to a story from Sixth Tone, life for the Lu family of Yuncheng, China, has never been easy. Life in the region has slowed thanks to the coronavirus, but the routine for them hasn’t changed much. This is because nine year old son Haoran and 16 year old daughter Liang both have Pompe disease, which has robbed them of much of their mobility. The Lu’s cannot afford the treatment that they truly need as enzyme replacement is not covered under China’s public health system.
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 a 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.
Running Out of Time
Of the two, Haoran’s condition is more severe and he needs constant help with oxygen supplementation because of his weak breathing. A single treatment for Haoran of the enzyme replacement therapy Myozyme exhausted the family’s savings, though it did result in some improvement. However, without regular access to the drug, he will continue to decline along with Liang.
Much of the Lu family’s income goes towards powering Haoran’s respirator, which is essential for keeping him alive. However, Liang’s breathing capacity is also starting to worsen. She frequently writes to the provincial health authorities about their predicament but hasn’t received any helpful response.
There have been some efforts on the regional level to cover treatments for Pompe disease patients, but even with 80 percent of costs covered, the sheer cost of treatment would still be out of reach for many families, including the Lu family. The key will be either achieving full coverage of treatment or the manufacture of a generic form of Myozyme by a Chinese company; however, the limited pool of patients means that such a venture is of little appeal to a drug maker.
The future for Haoran and Liang remains uncertain.