Melanie McKay, mother of a young boy with infantile-onset Pompe disease, talks about the importance of Rare Disease Day.
Rare Disease Day occurs on the last day of February to raise awareness of the 7000+ rare diseases that exist, including Pompe.
Pompe disease is a lysosomal storage disorder that leads to a buildup of glycogen in the cells. The accumulation of glycogen, especially in muscles, can lead to numerous complications, including muscle weakness/atrophy. Enzyme replacement therapy is available for this condition which can dramatically attenuate disease progression.
As Ms. McKay explains, each year, they use the vial tops from their enzyme replacement therapy to create art that can raise awareness about Pompe disease.
To learn more about this and other lysosomal storage disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/