Treatment for LSDs includes enzyme replacement therapy and bone marrow transplants to maximize patient outcomes. At CHOP’s LSD Center, we work with families to coordinate services across a therapeutic team that includes metabolic physicians, neuropsychologists, developmental pediatricians, ENT, orthopaedists, neurosurgeons, cardiologists, pulmonologists, nutritionists, nurses, genetic counselors, social workers, special educators, and occupational and physical therapists.
Alex Scott Day Hospital (Day Medicine)
Enzyme replacement therapy (ERT) is available for many LSDs including MPS-II, MPS IVA, MPS VI, MPS VII, Pompe, Fabry, Gaucher, etc. Patients who require ERT receive the first three months of infusions in our Day Medicine unit located at the Buerger Center for Advanced Pediatric Care, located on the Raymond G. Perelman Campus. We provide family-centered care with flexible appointment days/times and dedicated child life specialists to keep kids busy and educate them about procedures and treatments. We also provide individual treatment pods for comfort. After the first three months, families may choose to transfer to home infusions. In this setting, skilled home care nurses and pharmaceutical companies help provide patients with ERT in the comfort and convenience of their own home.
Pediatric Transplant Center
Some disorders such as MPS-I and MLD are treated with hemapoetic stem cell transplantation. Our LSD Center works closely with the Blood and Marrow Transplant Program at CHOP to provide care to our patients with comfort and safety as our priority.
Our center offers multidisciplinary clinics for all LSD disorders, including specialized clinics for MPS and Pompe patients. Each specialized clinic is held one Thursday per month. Pompe clinic involves our experienced metabolic physicians, genetic counselors and physical therapists who see patients jointly. MPS clinic involves metabolic physicians, genetic counselors, child development physicians and physical therapists. Our program has expert sub-specialty physicians dedicated to MPS disorders. To learn more about our specialty clinics please contact our department.