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Five-pound weights within months
Growing weaker
Megan was a sophomore at Notre Dame and getting weaker. People had trouble understanding her speech, and she couldn't hold her cell phone, which was her main way of communicating with her parents. Then her father's company, Amicus, put her on what was still an experimental Pompe disease drug, backed by great data leading into it.
The response
Within a few infusions she was holding her head upright. Within months she went from barely holding her phone to curling five-pound weights, and she was speaking more clearly, which her father joked was a devastating side effect for mom and dad. It also helped her socialize, make more friends, and take part in the Notre Dame community.
College and beyond
She finished Notre Dame in four years with a double major, spending nearly 1,000 nights in her South Bend dorm room with nurses, aides, nursing students from St. Mary's, and dozens of young women from Ryan Hall helping with wheelchair transfers and clearing snow. She went on to earn a master's in social work at the University of North Carolina and now works at the Make-A-Wish Foundation of New Jersey as assistant director of mission integration.
How do Pompe drugs reach muscle cells?
Enzyme drugs enter muscle cells by binding to receptors that recognize a sugar tag called mannose-6-phosphate, which then carry the enzyme into the lysosome, where it is needed. Skeletal muscle has relatively few of these receptors, which is one reason older enzymes reached it poorly. Newer enzymes were engineered with more of the tags so that more of the drug is taken up by muscle.
Why does muscle weakness blur speech?
Speech depends on fine control of muscles in the tongue, lips, jaw, and throat, and Pompe disease can weaken these like any other skeletal muscle. Breathing muscles matter too, because speech needs a steady stream of air from the lungs. When both groups tire, words come out slower and less distinct.
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