Melanie McKay, mother of a young boy with infantile-onset Pompe disease, talks about the importance of newborn screening for this rare, treatable condition.

Pompe disease is a rare inherited lysosomal storage disorder due to an inadequate level of the enzyme acid alpha-glucosidase (GAA) that leads to glycogen accumulating in the body and causing damage – particularly to muscle tissue. Treatment is available for this condition, enzyme replacement therapy, that can dramatically attenuate disease progression. Since early signs and symptoms of Pompe can be misleading, getting an early diagnosis can be difficult until some irreversible damage has occurred. 

Pompe disease is now part of the Recommended Uniform Screening Program (RUSP) and has begun to be included in newborn screening panels in various states. However, not all states have included Pompe to their panel. As Ms. McKay explains, when her son was born in 2016, only eight states tested for Pompe. Her home state of Oregon was not one of those eight. Currently, that number is at 22 states (including Oregon). 

To learn more about Melanie and her son, Ryker, go to www.rykersfoundation.org/ 

To learn more about Pompe disease and other lysosomal storage disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/