Infantile-onset Pompe disease (IOPD) can be devastating, with the median age of death estimated at 8.7 months. As seen in the figure below, survival rates using Kaplan-Meier estimates have been reported at 25.7%, 14.3%, and 9.0% for 12, 18, and 24 months, respectively.
Figure. Kaplan-Meier analysis of survival time in IOPD patients at 12, 18, and 24 months.
In a retrospective study of 168 patients, major documented symptoms (frequency in parentheses) included cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%), failure to thrive (53%), and congestive heart failure (50%). Weight, length, and head circumference percentages declined with increasing age to reach only the 1st, 18th, and 8th percentile at final assessment.
Although appropriate disease management has improved prognosis in patients with IOPD, facilitating the ongoing management of symptoms can cause great emotional, financial, and logistical hardships to the families and caregivers of patients with IOPD. Across IOPD and late-onset Pompe disease, caregivers have reported spending an average of 17.7 hours per week providing informal care, with approximately 50% of these caregivers attributing problems with mental health and daily activities to providing informal care.
Management of IOPD may involve a multipronged approach and involve specialists in inherited metabolic diseases, immunologists, cardiologists, neurologists, nutritionists, developmental pediatricians, pulmonologists, urologists, and anesthesiologists. Navigating assessments is challenging and can be a burden to caregivers; in some cases, a care coordinator may decrease this burden.
Supplying resources for patient-specific needs is important to acknowledge the burden to caregivers. Consult with both the resources for healthcare providers and resources for patients and caregivers to assist with the specific circumstances of the infant.
If a diagnosis is eventually confirmed, consider the Pompe Registry for your patient and their family. Registries have proven to be especially valuable in gathering information and contributing to scientific publications for rare diseases like Pompe disease.
The Pompe Registry is sponsored and administered by Sanofi Genzyme. Information submitted to the Pompe Registry will be maintained as confidential.