Last week, we again had to take my son, Cayden, on the dreaded 2.5-hour drive to Philadelphia. We usually make this trip to see all of Cayden’s specialists, but this time we went to the dentist. Plenty of pediatric dental offices are in our area, but none are very…
This month, we started back up with home-based therapies for my 3-year-old son, Cayden. He receives a few different services, such as physical therapy, occupational therapy, and speech therapy. Each of them is extremely beneficial for Cayden, who has infantile-onset Pompe disease. He has been getting these different…
When I became pregnant with my son, Cayden, at the young age of 15, I knew I had to start working as soon as possible. So, the week before I turned 16, I began my job hunt. Getting hired as a teen can be a challenge in itself, and being…
Early treatment with enzyme replacement therapy (ERT) and immune tolerance induction (ITI) greatly improved clinical outcomes for infants with the severe, frequently ERT-nonresponsive, CRIM-negative infantile Pompe disease (IPD), a study has found. “Our data suggest that the first few weeks after birth…
Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile Pompe Disease: a new feature?” was published in the journal Acta Bio Medica. Pompe…
Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents. About Pompe disease Pompe disease is a rare genetic disease. It is characterized by…
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