Melanie McKay, mother of a young boy with infantile-onset Pompe disease talks about the importance of having a clinician listen to the caregiver of the child.
Pompe disease is a rare inherited lysosomal storage disorder due to low levels of acid alpha-glucosidase (GAA) that leads to glycogen accumulating in the body and causing damage – particularly to muscle tissue, however, almost every organ can be impacted.
Ms. McKay provides two suggestions for clinicians treating Pompe patients. Firstly, clinicians should listen to the patient/caregiver. Since the disease is very rare and has a large variance among the patients, it is important for clinicians to listen to the patient/parent since the signs and symptoms may not be part of the literature. Secondly, clinicians should consult with specialists familiar with Pompe, such as the team at Duke University, who see Pompe patients on a fairly regular basis. Most clinicians may only see one or two patients with Pompe disease in their lifetime. The team at Duke see patients with this rare condition regularly and have a better understanding of its pathophysiology and natural history.
To learn more about Pompe disease and other lysosomal storage disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/