In August of 2017 our Dad was diagnosed with Late Onset Pompe Disease (LOPD), and since then he has been in a Trial Study at the Stanford University Medical Center. There is no cure, but there is a good treatment program with enzyme infusions every-other week. This provides us with a positive outlook for the future. 

On April 5th - 8th, 2018 Dr. Priya Kishnani and The Duke Pompe Team will hold a LOPD Patient Conference in Durham, North Carolina, and our parents need support with travel expenses (Flight, Lodging, etc.), because our Dad has been working less hours due to his illness. At the conference they will discuss a lot of important topics about this rare disease, and have several presentations that will benefit and support our parents through this journey. 




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Pompe disease is a rare, autosomal recessive disorder, due to α-glucosidase A deficiency. This was the first disease identified as a lysosomal storage disorder in 1963 and is characterized by a glycogen accumulation in multiple tissues with a predilection of skeletal muscle and heart.

LOPD is a slowly progressive form of Pompe disease, which presents itself in the 5th or 6th decade of ones life. The clinical picture is usually characterized by progressive proximal (highly recurrent limb-girdle distribution) and axial muscle weakness, and respiratory muscle impairment, mainly diaphragmatic.


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