Pompe Disease: What It Is and How It’s Managed with Infusion Therapy
Throughout the month of April, we’re diving deeper into conditions managed with enzyme replacement therapy (ERT) and information about the medication itself (watch for a video with our pharmacist in charge later this month). Last week, we explored the conditions added to the Minnesota newborn screening, one of which is Pompe disease – a diagnosis that requires a lifetime of enzyme replacement therapy. Today, we explore this condition more and understand how infusion services impact a child’s outcomes.
Types of Pompe disease
Pompe disease is an inherited genetic disorder that causes progressive muscle weakness in individuals and is characterized into three types, which are differentiated by severity and age of onset.
Classic infantile-onset: Symptoms include muscle weakness, poor muscle tone, enlarged liver, breathing problems, and heart defects. May also see failure to thrive.
Non-classic infantile-onset: Symptoms are usually presented by age 1 and is characterized by delayed motor skills and progressive muscle weakness. The child may have an abnormally large heart, but don’t typically experience heart failure as classic infantile-onset may.
Late-onset: This type of Pompe disease may not appear until later in childhood, adolescence, or adulthood and is usually milder than the infantile-onset forms. Individuals will likely experience progressive muscle weakness.
Because Pompe disease is a progressive condition, it naturally worsens over time. However, the speed and extent at which it progresses varies from person to person based on type and unique circumstances.
Infusion therapy for treatment
Thanks to recent additions made to Minnesota’s newborn screening test, infants with Pompe disease will have their conditioned identified with days of birth and can begin treatment immediately. Individuals with this condition are deficient in the enzyme acid alpha-glucosidase – and the sooner enzyme replacement therapy can be administered on a weekly basis, the better the outcomes for that child. Without this newborn screening, many children go weeks or months without a diagnosis or treatment until they present symptoms that lead to testing,
With infusion therapy from Pediatric Home Service, enzyme replacement therapy can happen on the family’s schedule. And because each patient has a dedicated nurse that comes to their home each week, parents can feel confident knowing their child’s provider understand their unique journey thoroughly. To begin receiving enzyme replacement therapy with PHS, contact us at 651-642-1825 or click here.Originally published: April 7, 2017