According to a story from macleans.ca, after beginning to develop problems with mobility such as climbing stairs, Julie Mason of Montreal endured years of confusing tests before doctors were able to accurately diagnose her case of Pompe disease. As with most conditions, earlier treatment generally yields the best results, but Julie’s case had gone without proper treatment for nearly four years.
Pompe disease, also known as glycogen storage disease type II, is a metabolic disorder caused by a buildup of glycogen in the lysosome because of a deficiency of the enzyme acid alpha-glucosidase. A genetically linked disorder, the disease can appear in newborns, but can also begin later in life, as was the case for Julie. Symptoms of late onset Pompe disease include recurring chest infections, an impaired cough, low muscle tone and progressive muscle weakness, and problems with swallowing and chewing. Outcomes for the disorder depend on the age at onset of disease and the severity of symptoms. Enzyme replacement therapy is a common and effective treatment. To learn more about Pompe disease, click here.
Unfortunately, stories like Julie’s are not exactly uncommon when it comes to diagnosing rare diseases. It is easy for the symptoms of one condition to be mistaken for those of another, more common one. It is not difficult for Pompe disease to be confused with other conditions such as muscular dystrophy or amyotrophic lateral sclerosis, which are other diseases that share symptoms such as muscle weakness with Pompe. The progressive nature of the disorder means that prompt treatment is essential, and the condition gets more difficult to treat the longer that therapy is delayed. Enzyme replacement therapy is capable of halting or reversing some of the effects.
For Julie, she began receiving treatment for her case in 2012. While the treatment has helped keep her condition from worsening, it frustrates her to know that her outcome could have been improved were it not for the years of delay before her Pompe disease was identified. Her story highlights the need for greater awareness about rare diseases as a whole, as well as the challenges that doctors face when they haven’t seen certain diseases before. Awareness is critical, and it can absolutely mean the difference between life and death for many patients.