Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will also affect your future children. How is Pompe disease inherited? Pompe disease is inherited in a recessive pattern,…
parenting
Health Insights
Speech Therapy for Pompe Disease: Does My Child Need It?
Speech therapy is commonly used to help Pompe disease patients, especially those diagnosed with the infantile-onset form of the disease. These patients show symptoms such as difficulty breathing, swallowing, and speech articulation due to weakened facial muscles, an enlarged tongue with poor motor control, and…
News
Late-onset Pompe Patient Gave Birth Twice to Healthy Infants While on Lumizyme, Case Study Reports
A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not to breastfeed the infants. The study, “Two successfully completed pregnancies in adult onset Pompe disease,…
On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed with Pompe disease. A few weeks later, so was her newborn brother, Patrick. Even the doctor who diagnosed the two children didn’t know much about the disease. Before that March day in 1998, he had…
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